Human Development Across The Lifespan: Chapter 3 (2008)

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DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition II. Beginnings 3. The Biological Basis of Development The McGrawHill Companies, 2009
Part Two Beginnings
THE BIOLOGICAL BASIS OF DEVELOPMENT
chapter
Chapter Outline
The Fertilization Process 51 Beginnings 52 Menstrual Cycle 52 Twins 54 Infertility 55 Causes of Infertility 55 Assisted Reproduction Techniques 56 Adoption 57 Heredity at Work 60 Chromosomes and Genes 61 DNA: Structure and Function 62 Genetic Counseling 64 How Traits Are Transmitted 65 Hereditary Disorders 66 The Human Genome Project 68 How the Human Genome Project Began 70 Ethical, Legal, and Social Implications 71 Conclusion & Summary 73 Key Terms 73 What Do You Think? 74 Chapter Review Test 74
Chapter Objectives
After you read this chapter, you should be able to answer the following questions.
How does fertilization, both natural and assisted, occur? What are the mechanisms of heredity, and what could go wrong? What are the major features and anticipated uses of the Human Genome Project?
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DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition
II. Beginnings
3. The Biological Basis of Development
The McGrawHill Companies, 2009
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part
Beginnings
s the sun began to rise on June 26, 2000, the weather gave every indication of becoming hot and humid, a Washington day that seemed ideal for a ceremony in the Rose Garden of the White House. Later, as a crowd gathered to celebrate one of the most remarkable feats in the history of biologythe unveiling of the first rough draft of the human genometension in the air seemed to grip everyone. Some of the great names in American biology were there. James Watson, codiscoverer of DNA and the first director of the Human Genome Project (HGP) in 1988, stood uneasily with others. Inside the White House, Francis Collins, current director of HGP, who had shepherded the federally funded public project to a positive conclusion, chatted with President Bill Clinton, as did Craig Venter, the president of Celera Genomics, who had led the private sector in its race with Collins and the federal project in their efforts to win biologys ultimate prize. Behind the formality of what appeared to be a festive occasion lay years of bitter infighting between the scientists with the federally funded projects and those with the privately held Celera, a story that included dramatic public battles, private scheming, and feuding, all with one goal in mindrecognition and riches. (Well return to this fascinating story later in the chapter.) The Human Genome Project has been nothing less than an attempt to identify and map the 25,000 to 30,000 genes that constitute our genetic makeup. Thanks to recent genetic research, the promise for the future for all human endeavors is staggering. Once specific genes are identified and located, efforts can be made to combat thousands of genetic diseases! Perhaps equally as exciting is the attempt to identify susceptibility genes, which do not of themselves cause disease but make certain people susceptible to such diseases as breast cancer, colon cancer, and Alzheimers. All the principal playersJames Watson, Francis Collins, Craig Venteragreed that we have now entered a time of an astounding new array of biological studies. Think of Chapter 3 as a guide to studying a map. In this case, however, youll be studying your own inherited human map, now being traced in exquisite detail in the Human Genome Project (HGP). But you may ask: What value is a map of our genes? Some practical contributions of DNA research include its use in paternity identification and criminal investigations. But aside from the contribution it is making to human knowledge, DNA research offers a great potential for identifying and curing disease. In this chapter, youll read about the fertilization process, during which the sperm and the egg unite. Today, however, we can no longer refer to simply the union of sperm and egg. We must ask additional questions: Whose sperm? Whose egg? Where did the union occur? Was it in the womans body? Which woman will carry the fertilized egg? You can see, then, that fertilization is a process filled with the potential for conflict and controversy because of new techniques that assist fertilization and enable it to occur outside a womans body. Also, our characteristics dont just appear; theyre passed on genetically from generation to generation. Following our discussion of genes, well trace the manner in which hereditary traits are transmitted. And, because occasionally the transmission of traits produces abnormalities, we will discuss them as well. Finally, no discussion of human heredity is complete without acknowledging the ethical issues that have arisen because of new developments. Answers still elude us, but at least we can ask several critical questions: Should scientists be allowed to transfer specific genes to satisfy a couples preferences? Should society determine that certain types of genes be chosen to ensure desirable products? No easy questions, these, but you can be sure that they will arise in the future.
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THE FERTILIZATION PROCESS

My mother groand! My father wept. Into the dangerous world I leapt. William Blake
The fusion of two specialized cells, the sperm and the egg (or ovum), mark the beginning of development, and the zygote (the fertilized ovum) immediately begins to divide. This fertilized ovum contains all the genetic material that the organism will ever possess.
T A B L E 3.1
A Genetic Glossary
acrosome: Area at the tip of the sperm that contains the chemicals enabling the sperm to penetrate the eggs surface. allele: Alternate forms of a specific gene; for example, there are genes for blue eyes and brown eyes. autosomes: Chromosomes other than the sex chromosomes. chromosomes: Stringlike bodies that carry the genes; they are present in all of the bodys cells. DNA: Deoxyribonucleic acid, the chemical structure of the gene. dominance: Tendency of a gene to be expressed in a trait, even when joined with a gene whose expression differs; for example, brown eyes will appear when genes for blue and brown eyes are paired. fertilization: Union of sperm and egg to form the fertilized ovum or zygote. gametes: Mature sex cells, either sperm or eggs. genes: Ultimate hereditary determiners; they are composed of the chemical molecule deoxyribonucleic acid (DNA). gene locus: Specific location of a gene on the chromosome. genotype: Genetic composition of a person. heterozygous: The gene pairs for a trait differ; for example, a person who is heterozygous for eye color has a gene for brown eyes and one for blue eyes. homozygous: The gene pairs for a trait are similar; for instance, the eye color genes are the same. meiosis: Cell division in which each daughter cell receives one-half of the chromosomes of the parent cell. For humans, this maintains the number of chromosomes (46) at fertilization. mitosis: Cell division in which each daughter cell receives the same number of chromosomes as the parent cell. mutation: Change in the structure of a gene. phenotype: Observable expression of a gene. recessive: Gene whose trait is not expressed unless paired with another recessive gene; for example, both parents contribute genes for blue eyes. sex chromosome: Chromosomes that determine sex; in humans they are the 23rd pair, with an XX combination producing a female and an XY combination producing a male. sex-linkage: Genes on the sex chromosome that produce traits other than sex. trisomy: Three chromosomes are present rather than the customary pair; Down syndrome is caused by three chromosomes at the 21st pairing. zygote: Fertilized egg.
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Any discussion of fertilization today must account for the advances that both research and technology have made available. Consequently, our discussion includes assisted fertilization techniques, such as in vitro fertilization (producing the famous test-tube babies). As you read, be sure to refer to the marginal definitions when you meet an unfamiliar term. Otherwise, the amazing richness of the genetic world might escape you. In our analysis of genetic material and its impact on our lives, well attempt to follow the manner in which we receive genes from our parents, so our story begins with the males sperm and the females egg.
Sperm
The major purpose of a males reproductive organs is to manufacture, store, and deliver sperm, which then has as its sole objective the delivery of its DNA to the egg. Males, at birth, have in their testes the cells that will eventually produce sperm. At puberty, the number of chromosomes is halved, and actual sperm are formed. Sperm, the male germ cells, are produced in the testes and contain one-half the number of chromosomes (23) found in body cells (46). The chief characteristics of the sperm are its tightly packed tip (the acrosome) containing the 23 chromosomes plus enzymes that will help the sperm penetrate an egg (Campbell & Reece, 2005). Sperm have short neck regions and tails to propel them in searching for the egg. Sperm remain capable of fertilizing an egg for about 24 to 48 hours after ejaculation (Moore & Persaud, 2003). Of the more than 200 million sperm that enter the vagina, only about 200 survive the journey to the womans fallopian tubes, where fertilization occurs. A normal male ejaculation typically results in anywhere from 100 to 650 million sperm (Campbell & Reece, 2005, p. 972). Males whose ejaculations consist of 10 million sperm or less are usually infertile. Male infertility is the estimated cause of one-third to one-half of childless unions.
(a)
Ovum (Egg)
(b) The sperm (a), in its search for the egg (b), carries the 23 chromosomes from the male.
The egg, also called the oocyte, is the female germ cell that is produced in the ovaries (Moore & Persaud, 2003, p. 2). Larger than the sperm, about the size of the period at the end of this sentence, the egg is round and its surface is about the consistency of stiff jelly. You may find it hard to believe, but a whale and a mouse come from eggs of about the same size. In fact, the eggs of all mammals are about the same size and appearance. When females are born, they already have primal eggs that have begun the maturation process, which will be completed after puberty. Estimates are that about 2 million eggs will be available during the reproductive years, and of these only about 400 will be released (Leifer, 2003). Since only one mature egg is required each month for about 35 years, the number present far exceeds the need. Eggs are usually fertilized about 12 hours after they are discharged from the surface of the ovary, or they die within 12 to 24 hours (Moore & Persaud, 2003). From this brief discussion, you can identify the major differences between eggs and sperm. Eggs are massive compared to sperm; eggs are well equipped with cytoplasm (contents of cell, exclusive of nucleus), whereas sperm have very little; eggs are immobile while sperm are mobile. There are two types of sperm: X and Y, while there is only the X-type of egg.
Menstrual Cycle
Beginning at puberty and typically continuing throughout the reproductive years, females experience monthly sexual cycles, involving activity of the brains
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F I G U R E 3.1
The relationship of ovary, egg, fallopian tube, and uterus.
From John F. Travers, The Growing Child, Scott, Foresman and Company, Glenview, Illlinois, 1982. Reprinted by permission of the author.
Fallopian tube
Uterus
Ovary
Egg
hypothalamus, the pituitary gland, ovaries, uterus, vagina, and mammary glands (Moore & Persaud, 2003). (Figure 3.1 illustrates the relationship of the ovum to the ovary, the fallopian tubes, and the uterus.) This process, called ovulation, triggers a chemical reaction that inhibits the ripening of further eggs. It also prepares the uterine lining for a potential fertilized ovum. If fertilization does not occur, the prepared uterine lining is shed in menstruation, and the entire process begins again. As a woman approaches the end of her egg-producing years, these last ova have been present for as many as 40 years. This may explain why the children of older women are more susceptible to genetic defects. The eggs have been exposed to environmental hazards (such as radiation) too long to escape damage (Jones, 1993, Moore & Persaud, 1998).
ovulation Egg bursts from the surface of the ovary. fallopian tubes Passageway for the egg once it is discharged from the ovarys surface. zygote Fertilized egg. implantation Fertilized egg attaches and secures itself to uterine wall. blastocyst Name of the fertilized egg after initial divisions.
Implantation
When the egg is discharged from the ovarys surface (a process called ovulation), it is enveloped by one of the fallopian tubes. The diameter of each fallopian tube is about that of a human hair, but it almost unfailingly ensnares the egg and provides a passageway to the uterus. If fertilization occurs, it takes place soon after the egg enters the fallopian tube. Figure 3.2 illustrates the fertilization process. Fusion of the two cells is quickly followed by the first cell division. As the fertilized egg, now called the zygote, travels toward implantation within the uterus, cell division continues. Implantation usually occurs in the endometrium (lining) of the uterus. The cells multiply rapidly and after about seven days reach the uterine wall. The fertilized egg is now called a blastocyst. The journey is pictured in Figure 3.3. Although individuals may change in the course of their lives, their hereditary properties do not change. The zygote (the fertilized egg), containing all 46 chromosomes, represents the blueprint for each persons physical and mental makeup. Under ordinary circumstances, environmental conditions leave the 46 chromosomes unaltered. (We now know that environmental agents such as drugs, viruses, and radiation may cause genetic damage.)
F I G U R E 3.2
Fertilization of the egg. The sperm, carrying its 23 chromosomes, penetrates the egg, with its 23 chromosomes. The nuclei of the sperm and egg fuse, resulting in 46 chromosomes.
From John F. Travers, The Growing Child, Scott, Foresman and Company, Glenview, Illlinois, 1982. Reprinted by permission of the author.
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F I G U R E 3.3
From ovulation to implantation.
Day 3
From John F. Travers, The Growing Child, Scott, Foresman and Company, Glenview, Illinois, 1982. Reprinted by permission of the author.
Day 1
Day 5 Day 7 Day 10
Once fertilization occurs, the zygote is not yet free from risk. Lets use a figure easy to work with and assume that 100 eggs are exposed to sperm. Here is the estimated mortality rate from fertilization to birth: 84 69 42 37 31 are fertilized are implanted survive one week survive seven weeks survive to birth
Thus, natures toll results in about a 70% mortality rate.
Twins
Occasionally, and for reasons that still elude us, twins are born. Most twins occur when a womans ovaries release two ripened eggs (rather than one) and both are fertilized by separate sperm. These twins are called nonidentical, or dizygotic, and their genes are no more alike than those of siblings born of the same parents but at different times. About two-thirds of all twins are dizygotic. In the United States, twins occur once in every 85 pregnancies, and recent figures show that in 2003 128,665 twins were born. The rate of nonidentical (dizygotic) twin births, however, varies considerably from country to country. For example, the rate of dizygotic twins is 1 in 500 in Asia but 1 in 20 in certain African countries (Moore & Persaud, 2003). Less frequently, twins develop from a single fertilized egg that divided after conception. Interestingly, identical twins usually do not result when the fertilized egg initially divides into two cells; separation typically occurs at the end of the first week (Moore & Persaud, 2003). Two embryos, each in its own amniotic sac develop within one chorionic sac (fluid-filled sac containing the embryo). This process leads to identical, or monozygotic, twins whose genes are identical; that is, they share the same genotype. The rate of monozygotic twins is about the same for all populations.
dizygotic twin Nonidentical twin.
monozygotic twin Identical twin.
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The term identical should be used cautiously. Although the interactions with parents supposedly help to account for any differences in the behavior of identical twins, many other influences are also at work (Lytton & Gallagher, 2002). For example, note that monozygotic twins were implanted in different places in the uterus, have different access to food, different exposure to harmful agents (infections, and so on), and different genetic action (genes being turned on and off at different times) (Willmut and Highfield, 2006). Identical twins certainly are more alike than you and I are, but theyre really not identical at all (Willmut & Highfield, 2006, p. 42).
INFERTILITY
infertility Inability to achieve pregnancy after two years.
Although the fertilization process just described is the normal process for most women, there are exceptions. Infertility, the inability to conceive when desired (Leifer, 2003), is a serious problem, and today hundreds of thousands of childless couples desperately desire children. Many couples, attempting to overcome this problem, turn to biological and/or adoption procedures. First, however, lets turn our attention to the causes of infertility.
Causes of Infertility
Infertility refers to those couples who have regular, unprotected sexual intercourse for one year and cannot conceive. The American Society for Reproductive Medicine estimates that infertility affects about 6.1 million people, about 10% of the reproductive population. Several reasons have been offered for this increased rate. In males, the number and quality of sperm are often suspected because of the challenges sperm face. Males must deposit a sufficient number of normal sperm near a womans cervix that can survive the acidic vaginal environment and swim toward the egg (Leifer, 2003, pp. 269272). Females must regularly produce normal eggs and possess a uterine environment that will sustain a pregnancy. Sexually transmitted diseases such as chlamydia, (usually a silent infection that may lurk in a womans pelvic organs) and gonorrhea may cause infertility. These, in turn, can lead to pelvic inflammatory disease (PID), which then can also produce infertility. Also, a growing number of women are delaying child bearing, and older women are more likely to become infertile if they have had abdominal surgery or if they experienced endometriosis, a condition that increases with age. (Endometrial tissue is typically found in the lining of the uterus; edometriosis is the growth of endometrial tissue outside the uterus.)
sexually transmitted diseases (STDs) Class of diseases that may cause infertility.
With approximately more than 6 million individuals in the United States who are thought to be infertile, many couples consult fertility specialists. Can you name the most common causes of infertility?
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Even if a couple finds that they are indeed infertile, they neednt abandon their hopes of parenthood since many assisted reproductive techniques are available today. The new technologies we are about to discuss offer couples new hope. Hundreds of in vitro fertilization centers and sperm banks now exist around the country.
Assisted Reproduction Technologies

assisted reproduction technologies (ART) External fertilization procedures. Fertilization occurs with help and outside of the womans body. in vitro fertilization Fertilization that occurs in the dish; an assisted fertilization technique. artificial insemination by donor (AID) Injection of sperm into woman. gamete intrafallopian transfer (GIFT) Sperm and egg are placed in fallopian tube. zygote intrafallopian transfer (ZIFT) Fertilized egg (zygote) is transferred to the fallopian tube. sperm donor Male either donates or sells sperm. egg donation Woman either donates or sells eggs. cryopreservation Freezing embryos for future use. intracytoplasmic sperm injection (ICSI) Sperm is injected directly into egg. surrogate motherhood One woman carries another womans embryo.
Many forms of assisted reproduction technologies (ART) are now available (Gardner & others, 2004; Leifer, 2003; Marrs, Block, & Silverman, 1997).
Although in vitro fertilization is probably the best-known ART procedure, another process, artificial insemination by donor (AID), is by far the most widely used one. (This technique is often referred to as therapeutic insemination.) Potential users of AID can be encouraged by the positive results of recent research that studied the quality of parenting and the psychological adjustment of AID children in two-parent heterosexual families. Gamete intrafallopian transfer (GIFT), in which sperm and egg are placed in the fallopian tube with the intent of achieving fertilization in a more natural environment (also known as embryo transfer). Zygote intrafallopian transfer (ZIFT), in which the fertilized egg is transferred to the fallopian tube. Sperm donation and egg donation, in which males and females either donate or sell their sperm and eggs. Today hundreds of sperm banks operate in the United States. Sixteen cryobanks store and sell frozen sperm, which are frozen in liquid nitrogen at 2190 C and remain potent for years. Women who will offer their eggs are in great demand. For example, a childless couple placed the following ad in the monthly magazine of a prestigious Eastern university: $50,000 to an intelligent, athletic egg donor who must be at least 5910 0, have a 14001 SAT score, and possess no major family medical issues. (Sege, 1999)
capacitation Removal of layer surrounding sperm.
Cryopreservation, which refers to freezing embryos for future use. Intracytoplasmic sperm injection (ICSI), in which a sperm is injected directly into an egg, a procedure particularly helpful when a man has a low sperm count. Surrogate motherhood, in which one woman carries another womans embryo for nine months. Finally, we return to in vitro fertilization, in which fertilization of egg with sperm occurs in a dish, which is probably the technique with which you are most familiar. The procedure is as follows. 1. The woman is usually treated with hormones to stimulate maturation of eggs in the ovary, and she is observed closely to determine the timing of ovulation (that is, the time at which the egg leaves the surface of the ovary). 2. The physician uses a laparoscope (a very thin tubular lens through which the physician can see the ovary) to remove mature eggs. 3. The egg is placed in a solution containing blood serum and nutrients. 4. Capacitation takes placethis is a process in which a layer surrounding the sperm is removed so that it may penetrate the egg, a process that takes about 7 hours (Curtis & Barnes, 1998).
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AN INFORMED VIEW
To Clone or Not to Clone
Few celebrities have so besotted the worlds media as she did. Her arrival caused a sensation, triggering an orgy of speculation, gossip, and hype. She posed for People magazine, and even caught the eye of Bill Clinton. (Willmut & Highfield, 2006, p. 11) Dolly, the most famous lamb in history, was born at 5:00 p.m. on a warm summers day, July 5, 1996. It was a remarkably quiet introduction to one of the most controversial events of the 20th century. Dolly was a clone; that is, she was not the product of the union of a sperm and egg. Ian Wilmut, a quiet, unassuming embryologist, combined the udder cell of a 6-yearold sheep with the egg of another sheep, after first removing the genetic material from the egg. The udder cells genes now assumed command of the growth and the development of the newly fertilized egg. The researchers next transferred it to a third sheep, which acted as a surrogate mother (Purves et al., 2004). The result 21 weeks later: Dolly, an identical twin of the original sheep that supplied the udder cell. But the identical twin was born six years later! (Kolata, 1998). (Alas, in spite of fame and fortune, Dolly died in 2003 of lung disease.) You have probably anticipated the next stage in the chronology of cloning: Is it possible to clone a human? This is no longer a question that is the stuff of science fiction. As you can imagine, this question has ignited a firestorm of controversy. Do the benefits of cloning (replicating perfect farm animals, adding genes so that a cow might have valuable drugs in its milk, allowing childless couples to have children, developing organs to use in transplants) suggest that cloning humans is a necessary next step? Or do the negative features of cloning, which include sacrificing embryos to obtain one healthy clone (it required 277 attempts to produce Dolly), the possibility of gross genetic defects, and the real likelihood of an accelerated aging process raise prohibitive barriers against human cloning (Krogh, 2002)? Considering the inevitable collision between available technology and the forces arrayed against cloning, do you think the cloning of humans will ever occur? If you would like to have a more informed view on this issue, you may want to read one or more of the references in this chapter. For example, Gina Kolata (1998) has written a fascinating account of the background and techniques of this process. You may also wish to learn more about it by going to our website at www. mhhe.com/dacey7.
Dolly as a lamb.
For an excellent summary of the cloning process, see Ian Willmut and Roger Highfield, After Dolly: The Uses and Misuses of Human Cloning, published by W.W Norton Co. in 2006.
5. 6. 7. 8.
Sperm are added to the solution; fertilization occurs. The fertilized egg is transferred to a fresh supporting solution. Fertilized eggs (the number varies) are guided into the uterus. The fertilized egg is transferred to the uterine lining.
During this period, the woman is being treated to prepare her body to receive the fertilized egg. For example, the lining of the uterus must be spongy or porous enough to hold the zygote. The fertilized egg must be inserted at the time it would normally reach the uterine cavity. In the United States, there were 35,025 live-birth in vitro deliveries in 2002 (CDC, 2003).
Adoption
adoption To take a child of other parents voluntarily as ones own.
For many couples who remain childless in spite of several attempts at assisted fertilization, adoption (to take a child of other biological parents voluntarily as
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closed adoption Natural parents know nothing about the adopting parents.
open adoption Natural parents have considerable input into the adoption process.
ones own) offers a viable option. Middle- to upper-middle class couples of all races and ethnicities who decide to adopt face competition from single adults, older adults, and gay adults. Because single parenthood is widely accepted today, more single women are keeping their children. The increasing use of contraception and the legality of abortion have also caused a sharp reduction in the number of available children, leading to heightened interest in adopting children from other nations. Nevertheless, more children are available for adoption than is commonly thought: older children, minority children, and special-needs children. Although these children are available for immediate adoption, the waiting period for healthy white infants may run into years. Adoption procedures were formerly closed (closed adoption), and the biological parents were completely removed from the life of their child once the child was surrendered for adoption. The bonds between birth parent(s) and child were legally and permanently severed; the childs history was sealed by the court. These procedures were done with good intentions, but it was as if the child had no genetic past. Supposedly, the natural parents and the adoptive couple were saved from emotional upset. Many biological mothers, however, reported in later interviews that they never recovered from the grieving process. Today, however, when a pregnant woman approaches an adoption agency, she gets what she wants. She can insist that her child be raised by a couple with specific characteristics: nationality, religion, income, number in family. She can ask to see her child several times a year, perhaps take the youngster on a vacation and telephone the child frequently. The adoption agency will try to meet these demands. This process is called open adoption, and although many adoptive couples dislike the arrangement, they really have no choice. Thus we see a new definition of adoption: the process of accepting the responsibility of raising an individual who has two sets of parents. Open adoption may also help a child to overcome the sense of loss that can accompany adoption (Leon, 2002). When couples choose to adopt, they should carefully consider the age of the child. They may find one age group more appealing than others. Each developmental periodinfancy, early childhood, middle childhood, adolescencehas its own strengths and weaknesses that one should consider as a potential adoptive parent. Adoptive parents should also realize that once children know they are adopted and understand what that means, the relationship with their adoptive parents inevitably changes. This moment of truth affects both parents and children. For example, children must cope with the idea of being relinquished, which is not an easy task. Parents must accept the idea that their children will want to know more about their biological parents, which is a natural concern (Brodzinsky & Pinderhughes, 2002). Finally, a troubling new development has entered the adoption scene. If you recall, in the in vitro process only a few embryos out of about a dozen are transferred to the woman. What happens to the rest? Estimates are that the roughly 300400 in vitro clinics in the United States now have at least 400,000 embryos stored. Of these, thousands have been donated to infertile couples, thus creating a new avenue toward adoption. What is of concern about this new procedure is the lack of any significant regulations to date to deal with critical issues: screening for disease, donor rights and responsibilities, donor identification (similar to the process for open adoption). This new technique promises to raise controversial legal and ethical issues. Today in the United States more would-be parents are turning to transracial and international adoption. Census figures indicate that about 25,000 children were obtained through international adoption last year. The majority of these children come from China (about 7,500) and Russia (about 6,000).
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A S O C I O C U LT U R A L V I E W
Foreign AdoptionAn Odyssey
Recently, friends of ours, Steve and Nancy, decided to adopt a Romanian infant girl of 15 months. Their story is both touching and moving, as well as a detailed chronicle of whats involved in the process. The young couple examined the pros and cons of both domestic and foreign adoptions and ultimately decided on a foreign adoption. They felt there were too many complications with most domestic adoptions, less certain outcomes, and often very lengthy waits. The downside of an international adoption is that generally the children are older and often have spent a year or more in an orphanage. The adoption agency they worked with was certified by the Romanian government. The agency had a Romanian husbandand-wife team working to identify adoptable children and assist with negotiating the process in Romania and also helping the adoptive parents once in Romania. The son of this couple works for the agency in the United States and communicates regularly with his parents. Steve and Nancy were told they must use one of the certified agencies in order to adopt. They also needed to follow Massachusetts laws for a detailed home study, including criminal background checks. In addition, they had to apply to the Immigration and Naturalization Services (INS) for approval. They were also checked by the FBI. The only input they had to the adoption process was to specify a child as young as possible; the agency matches children and parents. On a second adoption, however, prospective parents are allowed to specify the sex. They found going through the Romanian system a difficult process. They were told about Katie in June 1996 and anticipated going to Romania the following September to get her. Katie is from Iasi, near the Ukrainian border. The home study done on Steve and Nancy plus their INS paperwork were submitted to the Romanian Adoption Review Committee, which approved them as adoptive parents. (The birth parent(s) must also give their permission for the child to be adopted.) Once the adoption committee approves both parents and children, the paperwork goes back to the local courts for finalization. Next, a hearing is held followed by an appeal period. Ultimately the adoption paperwork was completed in early January. They had to wait three weeks for Katies passport and then went back to Romania to bring her home. At the orphanage, Steve and Nancy were able to see only the main entry way and a small room off to the side. They were told that this orphanage was the best in the country. Supposedly, the director was well educated, with degrees in early childhood education. The orphanage seemed bright and clean, and the children are taken outside to play, which is very unusual in Romania. There were Disney characters on the wall and Polaroid pictures of the children visiting with their version of Santa Claus. Steve and Nancy couldnt learn much about
the childrens diet or stimulation other than Katie had oranges and in all likelihood bananas. They also learned little about staffing conditions (ratio of staff to children, education of staff, and so on). When they brought Katie home in late January, she was almost 15 months old. She was slightly anemic when she arrived, but an iron-based formula quickly corrected the problem. Today Katie is an excellent eater and enjoys almost everything except fruit juices. She adjusted quickly to her new parents and their home. She had no difficulty with eating or sleeping, nor was she irritable. The only problem was a viral infection that lasted for about 5 weeks. The social worker visited about 3 weeks after they arrived home and again at the 21 month mark. In that time she noticed how much more interactive Katie had become. They recently had their final home study visit, and the social worker was very pleased with Katies development. Katie will be 22 months old on September 4 and is a normal toddler. Shes very active, has good motor skills, is beginning to exhibit a temper when she does not get her own way, and she tests Steve and Nancy to see how much she can get away withvery normal reactions for an almost 2-year-old. The only problem seems to be a language delay, but comprehension seems to be normal. A speech pathologist has recommended a reevaluation in 4 months, with the belief that her language skills will explode before then. She is now mimicking much of what Steve and Nancy say to her; thus it would appear that she will swiftly overcome this language delay. In summary, Katie came into a warm, loving environment, has adjusted well, and seems on the way to a normal and happy childhood.
Although the process remains complicated, the number of international adoptions is increasing.
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Guided Review
1. 3. The is the process uniting sperm and egg. . ripen and release an egg each month. 2. A fertilized egg is known as a
4. The most well-known example of an assisted fertilization technique is fertilization. 5. The most widely used assisted fertilization technique is 6. Estimates are that at least infertile. . % of the reproductive population is
7. A form of adoption that today is becoming more popular is adoption.
HEREDITY AT WORK
The original cell, the possessor of 46 chromosomes, begins to divide rapidly after fertilization, until the infant has billions of cells at birth. The cells soon begin to specialize: some become muscle, some bone, some skin, some blood, and some nerve cells. These are the somatic, or body, cells. The process of division by which these cells multiply is called mitosis (see Figure 3.4). In a mitotic division, the number of chromosomes in each cell remains the same. Mitosis is basically a division of cells in which each chromosome is duplicated so that each cell receives a copy of each chromosome of the parent cell. What is doubled in mitotic division is the amount of deoxyribonucleic acid (DNA), the chief component of the genes. A second type of cell is also differentiated: the germ, or sex, cell that ultimately becomes either sperm or egg. These reproductive cells likewise divide by the process of mitosis until the age of puberty. But then a remarkable phenomenon occurs another type of division called meiosis, or reduction division (see Figure 3.5). Each sex cell, instead of receiving 46 chromosomes upon division, now receives 23. Meiosis, which occurs only in germ cell reproduction, is responsible both for the shuffling of hereditary characteristics received from each parent and for their random appearance in offspring. During the reduction division, the chromosomes separate longitudinally so that 23 go to one cell and 23 to another (NussleinVolhard, 2006). For the male, reduction division begins to occur just before puberty. For the female, the process differs slightly. Since she is required to produce only one mature egg a month, there is no provision for an indefinitely large number of eggs, as there is for sperm. A woman normally sheds only 300 to 400 mature ova in her lifetime, whereas the normal male in a single ejaculation emits hundreds of millions of sperm. At birth, the females ovaries contain tiny clusters of all the eggs that will mature in later years. Just before puberty, the final phases of the reduction division occur, and mature eggs are formed. It is as if there is a lengthy waiting period, from birth until about the age of 12 or 13, before the process is finally completed. The 23 chromosomes with their hereditary content are present at birth but must await the passage of time before biological maturity occurs in the female.
FIGURE 3.4
A mitotic division is a cell division in which each daughter cell receives the same number of chromosomes as a parent cell46. mitosis Cell division in which the number of chromosomes remains the same. meiosis Cell division in which the number of chromosomes is halved.
Answers
1. Fertilization 2. zygote 3. ovaries 4. in vitro 5. AID 6. 10 7. open
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Now that we have traced the process by which fertilization occurs and discovered what is passed from parents to child, we still need to know why I am who I am. This leads us to a discussion of chromosomes and genes.
Chromosomes and Genes

After the sperm and egg unite, the new cell (the potential person) possesses 23 pairs of chromosomes, or 46 chromosomes, which represents our total biological heritage. The sperm determines sex, since it alone can carry a Y chromosome. Thus there are two kinds of sperm: the X chromosome carrier and the Y chromosome carrier. The Y carrier is smaller than the X, which contains more genetic material. The Y carrier is also lighter and speedier and can reach the egg more quickly. But it is also more vulnerable. One member of each pair of chromosomes has been contributed by the father and one by the mother. Each pair, except the 23rd, is remarkably alike. The 23d pair defines the individuals sex: an XX combination indicates a female; XY indicates a male. The male, from conception, is the more fragile of the two sexes. Estimates are that 160 males are conceived for every 100 females. However, so many males are spontaneously aborted that only 105 males are born for every 100 females. A similar pattern appears in neonatal life and continues throughout development, until women finally outnumber men, reversing the original ratio. Consequently, certain conclusions follow:

FIGURE 3.5
A meiotic division is a cell division in which each daughter cell receives one half of the chromosomes of the parent cell23. chromosomes Stringlike bodies that carry the genes; they are present in all body cells. gene Inherited trait determined by the elements of heredity that are transmitted from parents to offspring in reproduction. A adenine T thymine C cytosine G guanine genotype Individuals genetic composition. phenotype The observable expression of gene action.
Structurally and functionally, females resist disease better than males do. The male is more subject to hereditary disease and defect. Environmental elements expose the male to greater hazards. Females are born with and retain a biological superiority over males.
The significance of the chromosomes lies in the material they containthe genes. Each gene is located at a particular spot on the chromosome, called the gene locus. DNA, the chemical structure of genes, was not known until 1944, when Oswald Avery and his colleagues proved that genetic material consisted of deoxyribonucleic acid. Since genes consist of only four building blocks, all genes are almost chemically alike. To determine the specific function of any gene, researchers must identify the exact order of the four chemical basesA T C Gthat constitute DNA. As the Nobel prize winner, Christiane Nusslein-Volhard (2006, p. 32) has noted, this seeming simplicitya language of four letterspermits an exact reading of its structure. Genes account for all inherited characteristics, from hair and eye color to skin shade, even the tendency toward baldness. Thus our genotype (our genetic heritage) is expressed as a phenotype (our observable characteristics). Genes always function in an environment, and environmental circumstances affect the way that the genes express themselves. As critical as genes are to life itself, who owns them? As Stix (2006) notes, theres a gene in your body that is crucial for early spinal cord development. It belongs to Harvard University! Incyte Corporation of Delaware has the patent for a gene of a receptor for histamine. Good luck with your hay fever. Nearly half the genes involved in cancer are patented. The United States Supreme Court held that living things are patentable as long as they incorporate human intervention in other words, as long as they are made by humans (Stix, 2006, p. 78). As of today, universities, corporations, government agencies, and nonprofit organizations have patents for about 20% of the human genome, which has led to intense debate among ethicists, judges, and scientists and which promises only to intensify in the coming years.
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FIGURE 3.6
The DNA double helix. (a) The overall structure that gave DNA its famous name. (b) A closer examination reveals that the sides of the spiral are connected by chemicals similar to the rungs of a ladder.
From John F. Travers, The Growing Child, Scott, Foresman and Company, Glenview, Illinois, 1982. Reprinted by permission of the author.
(a)
(b)
Our discussion now brings us to the discovery of DNA, one of the great achievements of the 20th century.
DNA: Structure and Function

I got hooked on the gene during my third year at the University of Chicago. Until then, I had planned to be a naturalist and looked forward to a career far removed from the urban bustle of Chicagos South Side. The notion that life might be perpetuated by means of an instruction book inscribed in a secret code appealed to me. What sort of molecular code could be so elaborate as to convey all the multitudinous wonder of the living world? And what sort of molecular trick could ensure that the code is exactly copied every time a chromosome duplicates? (Watson, 2003, pp. 3536)
DNA Deoxyribonucleic acid; the chemical structure of the gene that accounts for our inherited characteristics. RNA (ribonucleic acid) Nucleic acid similar to DNA.
Today we know that each chromosome contains thousands of genes, which are small sections of DNA (deoxyribonucleic acid). The amazing chemical compound DNA is the chemical key to life in humans, animals, and plants, and is the molecular basis of the genes. Each gene follows the instructions encoded in its DNA and sends these instructions, as chemical messages called RNA (ribonucleic acid), into the surrounding cell. (See Figure 3.6.) The RNA acts swiftly, forming a particular protein at the staggering rate of 100 molecules per second! These new products then interact with the genes to form new substances, a process that continues to build the millions of cells needed
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AN INFORMED VIEW
Discovering the Double Helix
At first glance James Watson and Francis Crick looked like any other young instructors at Englands Cambridge University. But there was soon to be something quite different about them. On a winters day in 1953, they shocked the biological world and took the first step toward their future Nobel Prizes when they burst into a pub near their laboratory and announced to their astonished colleagues that they had discovered the secret of life. Just hours before, they had finally determined the exact model of DNA. In a spirited race with some of the greatest minds in biologyLinus Pauling, Maurice Wilkins, Rosalind Franklinafter years of theory building, testing, failure, and theory revision, Watson and Crick persevered and triumphed. The significance of their discovery cant be overlooked. Extraordinary new scientific vistas opened up: We would at last come to grips with genetic diseases from cystic fibrosis to cancer, we would revolutionize criminal justice through genetic finger printing methods; we would profoundly revise ideas about human originsabout who we are and where we came fromby using DNA-based approaches to prehistory; and we would improve agriculturally important species with an effectiveness we had previously only dreamed of. (Watson, 2003, p. xiiii) But the chase had only begun. Although the structure of DNA was now known and provided clues as to function, the question remained: How does this structure actually work? Francis Crick initially charted the course when he speculated that genetic information stored in DNA flows through RNA (ribonucleic acid) to proteins (Micklos & Freyer, 2003). Information in DNA is stored as a code (as well see in this chapter) and is then translated into the language of RNA, which eventually directs the formation of proteins. And now the race began in earnest. After the discovery of the double helix model in 1953, intense interest mounted as efforts to probe more deeply into genetic action and application.
Francis Crick and James Watson with their model of DNA, which won them the Nobel Prize in 1962.
Young adult readers would enjoy reading Nancy Werlins Double Helix (2004, NY: Dial). The young adult narrator has learned that his mothers insanity has been traced to Huntingtons disease, and he is faced with a decision that faces more and more people today: Should he undergo testing to determine if he carries the dangerous gene? Young readers will find the path he chooses intriguing.
for various bodily structures. Genes not only perform certain duties within the cell but also join with other genes to reproduce both themselves and the whole chromosome. Examine Figure 3.7 and note how the strands intertwine. The strands, similar to the sides of a ladder, are connected by chemical rings: adenine (A), guanine (G), cytosine (C), and thymine (T). The letters are not randomly connected: A joins with T, G with C. If a code were written as AGCTTGA, it must appear as: AGCTTGA TCGAACT Thus, one sequence determines the other. A remarkable feature of DNA is its ability to reproduce itself and ensure that each daughter cell receives identical information. During mitosis the DNA splits as readily as a person unzips a jacket (Curtis & Barnes, 1998). Each single strand grows a new mate, A to T and G to C, until the double-helix model is reproduced in each daughter cell. The four letter possibilities, AT, TA, GC, and CG, seem to limit genetic variation. But when we consider that each DNA molecule is quite lengthy, involving
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F I G U R E 3 . 7 (a) The chromosome structure of a male and (b) the chromosome structure of a female. The 23rd pair is shown in the bottom right box of each figure; note that the Y chromosome of the male is smaller. To obtain this chromosomal picture, a cell is removed from the individuals body, usually from the inside of the mouth. The chromosomes are magnified extensively and then photographed.
(a)
(b)
thousands, perhaps millions of chemical steps (TA, GC, AT, CG, AT, CG, TA), the possible combinations seem limitless. The differences in the DNA patterns account for the individual genetic differences among humans and for differences between species. (Figure 3.7 illustrates the chromosomal arrangement of a typical male and female.) Estimates are that the entire human genome contains about 3 billion letters and is often referred to as the text of a book. Reading this book at the rate of one letter every second, plan to spend 11 years to finish it (Shreeve, 2005). The work of Watson and Crick, which led to a Nobel Prize in 1962, was first published in 1953 in the journal Nature and began with the words: We wish to suggest a structure for the salt of deoxyribonucleic acid (DNA). This structure has novel features which are of considerable biological interest. And so began the DNA era!
Genetic Counseling
How much information is contained in this biological heritage? Each chromosome contains the equivalent of about 3 billion letters. Since the average word contains six letters, each chromosome incorporates information equal to about 500 million words. At about 300 words per typical printed page, this translates into the equivalent of about 2 million pages. The average book consists of about 500 pages. Thus the information in one human chromosome corresponds to that in 4,000 books. Francis Collins, the leader of the federally funded Human Genome Project, has stated that in 10 years well be able to predict what conditions most threaten us and that will lead to more specific preventative practices (In Smith, 2005). This enormous volume of information has led to changes in the practice of medicine with genetic testing and genetic counseling becoming more accessible. There is little doubt that were in the early stages of a genetic revolution (Patenaude, Guttmacher, & Collins, 2002). Yet genetic testing does not provide absolute answers. For example, should a woman decide on a hysterectomy to avoid a 40% chance of ovarian cancer, or a double mastectomy if the odds of getting breast cancer are 20%? These are serious, life-threatening issues that require informed answers. To help those who work with such clients, The National Coalition
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James Watson. (1968). The Double Helix. Boston: Atheneum. This book has become a scientific classic. It is James Watsons personal, colorful look at the discovery of DNA and is guaranteed to hold your attention. If you are the least bit intimidated by the thought of reading about your genetic heritage, this book should eliminate your concerns. (Available in paperback.)
for Health Professional Education in Genetics (NCHPEG) has proposed a set of core competencies. They urge that health professionals working in this field recognize the limitations of their genetic expertise, thoroughly understand the implications of their work, and know when to make a referral to a genetics specialist, With these warnings, they identify three sets of competencies. 1. Knowledge. There are 17 guidelines for knowledge, ranging from understanding basic genetic terminology, recognition of a predisposition to genetic disease, and knowledge of referral services. 2. Skills. Gathering genetic family history and informing clients of the availability of genetic counseling are examples of needed skills. 3. Attitudes. Needed attitudes include an appreciation of the sensitivity of genetic information and an acceptance of ones limited expertise in the area of genetic information. The task is challenging but exciting, with the promise of a rewarding future.
Guided Review
8. Cell division in which each daughter cell receives the same number of chromosomes as the parent cell is called . 9. A reduction division in which the number of chromosomes is halved is called . 10. The chemical key to life is 11. The amount of . is doubled in each mitotic division. itself. . , whereas .
12. A remarkable feature of DNA is its ability to 14. The genetic composition of a person is referred to as the the observed expression of a gene is called the
13. In genetic coding, A is linked with ____ and G is linked with
How Traits Are Transmitted

In their analysis of genes and genomes, Hartl and Jones (2005, p. 3) state that the fundamental concept of genetics is that inherited traits are determined by the elements of heredity that are transmitted from parents to offspring in reproduction; these elements of heredity are called genes.
The strong resemblance of these family members to one another is testimony to the role of heredity in our make-up. When you see the strength of heredity, as in this picture, how would you respond to the statement, biology is destiny?
The story behind the transmission of traits is fascinating. Working in a quiet monastery garden, the Austrian monk Gregor Mendel provided the impetus for modern genetics. His great achievement was to demonstrate that inherited characteristics are passed on by discrete elements called genes. As a result of cross-breeding pea plants (for example, purple with white, yellow with green), Mendel discovered genetic principles that still guide us. By the last year of his experiments, its estimated that Mendel had counted more than 300,000 peas (Henig, 2000)!
Answers
8. mitosis 9. meiosis 10. DNA 11. deoxyribonucleic acid 12. reproduce 13. T, C 14. genotype, phenotype
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dominant (dominance) Tendency of a gene to be expressed in a trait. recessive Gene whose trait is not expressed unless paired with another recessive gene; for example, both parents contribute genes for blue eyes.
mutations Abrupt hereditary changes. incomplete dominance A genetic trait is not fully expressed. codominance Phenotypes of both alleles. polygenic inheritance Many genes contribute to the formation of a particular trait.
For example, cross-breeding purple with white produced all purple in the first generation. Consequently, Mendel called purple the dominant characteristic in this combination. When white appeared in later generations, he referred to white as the recessive characteristic. Studying his results, Mendel realized that the appearance and disappearance of various characteristics could be traced to separate factors. Some came from the maternal parent, others from the paternal parent, which led to his hypothesis that every individual carries pairs of factors for each trait. Members of each pair then separate from generation to generation. His discovery is called the principle of segregation and helps to explain why blue-eyed babies occasionally appear in typically brown-eyed families. Mendels work, first reported in 1865, was ignored until 1900 when other biologists discovered his work. Using his ideas, new strides were made. For example, abrupt changes in genes are possible, a phenomenon called mutations. Think of mutations as inherited accidents that may have adverse effects on any individual but that rarely affect evolutionary change (Jones, 1993). Other advances included the notion of incomplete dominance, that is, some characteristics seem to blend (red 1 white 5 pink). Occasionally codominance results in both pure characteristics appearing. Blood types are a good example: Type AB has red blood cells with the distinctive characteristics of both Type A and Type B. We now know, however, that most traits result from the interaction of many genes, and also that most genes influence more than a single trait (Curtis & Barnes, 1998). When many genes interact to produce a particular trait, the process is called polygenic inheritance. Such traits as height and weight are examples of polygenic inheritance. Unfortunately, the line of transmission is occasionally broken and hereditary abnormalities occur.
Hereditary Disorders
Since hereditary abnormalities can reside either in the chromosomes or the genes, well analyze each case separately.
Examples of Chromosomal Disorders

cytogenetics The study of chromosomes. Down syndrome Genetic abnormality caused by a deviation on the twenty-first pair of chromosomes.
Down syndrome is caused by a deviation on the 21st pair of chromosomes. A child with the syndrome has distinctive facial features and is likely physically and mentally challenged. How has treatment of Down syndrome children changed dramatically?
The study of chromosomes is called cytogenetics, and thanks to new research techniques that enlarge prints of the chromosomes 2,000 to 3,000 times, our knowledge has increased tremendously. For example, we now know that chromosomal abnormalities usually occur when something goes wrong in normal chromosomal mechanisms and not through anything inherited (Rutter, 2006). These abnormalities typically appear by chance (given that there are so many cell divisions) or by damage to the DNA (radiation, and so on). Fertilization of older eggs may also be the cause, as in Down syndrome. Down syndrome is caused by an extra chromosome; the person may have 47 chromosomes. This defect was identified in 1866 by a British doctor, Langdon Down; it produces distinctive facial features, small hands, a large tongue, and possible functional difficulties such as mental retardation, heart defects, and an increased risk of leukemia. The incidence of Down syndrome is closely related to the mothers age: Under age 30, the ratio is only 1 in 1,700 births; at age 35, the chances of a woman having a Down baby jumps to 1 in 400. Once a woman reaches the age of 45, the incidence increases to 1 in 30 (Watson, 2003). Although the exact cause of Down syndrome remains a mystery, it may lie in the female egg production mechanism, which results in some eggs remaining in the ovary for 40 or 50 years. The longer they are in the ovary, the greater the possibility of damage. Research during the last 40 years has led to improvements in life expectancy, overall health, and quality of life of Down syndrome children (Hartl & Jones, 2005). Management of the mental retardation associated with Down syndrome has also advanced: better educational programs, early intervention
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Klinefelter syndrome Males with the XXY chromosomal pattern.
Turner syndrome Females with the XO chromosomal pattern.
techniques, and specific therapies (for example, speech programs), which in turn have produced better functioning and socialization. Other disorders relate to the sex chromosomes. If you recall, the 23d pair of chromosomes are the sex chromosomes, XX for females, XY for males. Estimates are that 1 in every 1,200 females and 1 in every 400 males have some disorder in the sex chromosomes. Occasionally, a male possesses an XXY pattern rather than the normal XY. This is called Klinefelter syndrome (named after Dr. Harry Klinefelter in 1942), a disorder that may cause small testicles, reduced body hair, possible infertility, and language impairment. Klinefelters occurs in about 1 in 1,000 male births; the condition may be helped by injections of testosterone. Another pattern that appears in males is XYY, which may cause larger size and increased aggressionabout 1 in 1,000 male births (Bock, 1993). Females occasionally possess an XO pattern (lack of a chromosome) rather than XX. This is called Turner syndrome and is characterized by short stature, poorly developed secondary sex features (such as breast size), and usually sterility (about 1 in 2,500 female births).
Examples of Genetic Disorders

This section discusses the incidence and characteristics of several specific genetic disorders. Even as this is being written, thanks to the Human Genome Project, new genetic discoveries are being announced daily. (For an excellent analysis of genetic disorders, see Hartl & Jones, 2005.) Jews of Eastern European origin are struck hardest by Tay-Sachs disease, which causes death by the age of 4 or 5. At birth, the afflicted children appear normal, but development slows by the age of 6 months, and mental and motor deterioration begin. About 1 in every 25 to 30 Jews of Eastern European origin carries the defective gene, which is recessive; thus danger arises when two carriers marry. The disease results from a gene failing to produce an enzyme that breaks down fatty materials in the brain and nervous system. The result is that fat accumulates and destroys nerve cells, causing loss of coordination, blindness, and finally death. Today there are reliable genetic tests to identify carriers, and amniocentesis (see Chapter 4) can detect the genetic status of a fetus of carrier parents (Curtis & Barnes, 1998). Sickle-cell anemia, which mainly afflicts those of African descent, appeared thousands of years ago in equatorial Africa and increased resistance to malaria. Estimates are that 10% of the African-American population in the United States carry the sickle-cell trait. Thus, two carriers of the defective gene who marry have a one in four chance of producing a child with sickle-cell anemia. The problem is that the red blood cells of the afflicted person are distorted and pointed. Because of the cells shape, they encounter difficulty in passing through the blood vessels. They tend to pile up and clump, producing oxygen starvation accompanied by considerable pain. The body then acts to eliminate these cells, and anemia results. In the United States, cystic fibrosis (CF) is the most severe genetic disease of childhood, affecting about 1 in 2,000 children. About 1 in 30 individuals is a carrier. The disease causes a malfunction of the exocrine glands, the glands that secrete tears, sweat, mucus, and saliva. Breathing is difficult because of the thickness of the mucus. The secreted sweat is extremely salty, often producing heat exhaustion. About 30,000 children and adults have cystic fibrosis in the United States, and it kills more children than any other genetic disease (Ball & Bindler, 2006). Cystic fibrosis has been deadly for several reasons: Its causes long remained unknown, and its carriers could not be detected. Thus until a child manifested the breathing and digestive problems characteristic of the disease, identification was impossible. The CF gene now has been identified, however, and new research offers hope. Discovery of the CF gene has made possible the detection of carriers, a tremendous legacy of the Human Genome Project.
Tay-Sachs disease Failure to break down fatty materials in the CNS.
sickle-cell anemia Chromosomal disorder resulting in abnormal hemoglobin.
cystic fibrosis Chromosomal disorder producing a malfunction of the exocrine glands.
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phenylketonuria (PKU) Chromosomal disorder resulting in a failure of the body to break down the amino acid phenylalanine.
spina bifida Genetic disorder resulting in the failure of the neural tube to close.
sex-linked inheritance Genes on the sex chromosome that produce traits other than sex. hemophilia Genetic condition causing incorrect blood clotting; called the bleeders disease. color blindness Usually X-linked red/green color blindness. fragile X syndrome Sex-linked inheritance disorder in which the bottom half of the X chromosome looks as if it is ready to fall off; causes mental retardation in 80% of the cases.
Phenylketonuria (PKU) results from the bodys failure to break down the amino acid phenylalanine, which then accumulates, affects the nervous system, and causes mental retardation. Most states now require infants to be tested at birth. If PKU is present, the infants are placed on a special diet that has been remarkably successful. But this success has produced future problems. Women treated successfully as infants may give birth to retarded children because of a toxic uterine environment. Thus at the first signs of pregnancy, these women must return to a special diet. The cured phenylketonuric still carries the faulty genes. Spina bifida (failure of the spinal column to close completely) is an example of a genetic defect caused by the interaction of several genes with possible environmental involvement. During the formation of the nervous system (See Chapter 4), if the developing neural tube does not close, spina bifida results, which can cause mental retardation. Studies have shown that if women take extra folic acid when theyre pregnant, the number of cases of spina bifida decreases (Blackman, 1997). Disorders also occur because of what is known as sex-linked inheritance. If you recall, the X chromosome is substantially larger than the Y (about three times as large). Therefore, the female carries more genes on the 23rd chromosome than does the male. This difference helps to explain sex linkage. Think back now to the difference between dominant and recessive traits. If a dominant and a recessive gene appear together, the dominant trait is expressed. An individual must have two recessive genes for the recessive trait (say, blue eyes) to appear. But on the 23rd set of chromosomes, nothing on the Y chromosome offsets the effects of a gene on the X chromosome. Perhaps the most widely known of these sex-linked characteristics is hemophilia, a condition in which the blood of hemophiliacs does not clot properly. Several of the royal families of Europe were particularly prone to this condition. Another sex-linked trait attributed to the X chromosome is color blindness. The X chromosome contains the gene for color vision, and, if it is faulty, nothing on the Y chromosome counterbalances the defect. In 1970 a condition called fragile X syndrome was discovered. In this disorder, the end of the X chromosome looks ready to break off. In 1991 the gene for fragile X (FMR1) was discovered. Difficult to diagnose in the first year of life, fragile X seems to cause no physical problems. Fragile X appears in about 1 in 2,500 male births and 1 in about 5,000 female births. It affects males more severely than females, with developmental delays in speech and communication skills. As time passes, many of these children are learning disabled or mentally retarded (Hartl & Jones, 2005). These are the more frequent chromosomal and genetic diseases, which are summarized in Table 3.2. (Other diseases also have, or are suspected of having, a strong genetic origin: diabetes, epilepsy, heart disorders, cancer, arthritis, and some mental illnesses.) To end this part of our work on a more optimistic note, lets again turn our attention to the promising and exciting discoveries of the Human Genome Project.
THE HUMAN GENOME PROJECT

The genome is the entire set of genetic instructions in the nucleus of every cell. (In fact, each cell contains two genomes, one derived from each parent: the two copies of each chromosome we inherit furnish us with two copies of each gene, and therefore two copies of the genome.) Genome size varies from species to species. From measurements of the amount of DNA in a single cell, we have been able to estimate that the human genomehalf the DNA contents of a single nucleuscontains some 3.1 billion base pairs: 3,100,000,000 As, Ts, Gs, and Cs. (Watson, 2003, p. 165)
Hemophilia is an example of sex-linked inheritance, which affected several of the royal families of Europe (such as the Romanovs of Russia, exemplified by the family of Csar Nikolas, pictured here).
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T A B L E 3.2 Chromosomal and Genetic Disorders
CHROMOSOMAL DISORDERS Name Down syndrome Effects 47 chromosomes; distinctive facial features, mental retardation, possible physical problems XXY chromosomal patterns in males; possible infertility, possible psychological problems One X chromosome missing in female, lack of secondary sex characteristics, infertile XYY chromosomal pattern in males; tend to be large, normal intelligence and behavior GENETIC DISORDERS Tay-Sachs disease Failure to break down fatty material in central nervous system; results in blindness, mental retardation, and death (usually by 4 or 5 years of age) Blood disorder produces anemia and considerable pain; caused by sickle shape of red blood cells Body produces excessive mucus, causing problems in the lungs and digestive tract; may be fatal; suspect gene recently identified Body fails to break down amino acid (phenylalanine); results in mental retardation; treated by special diet Neural tube problem in which the developing spinal column does not close properly; may cause partial paralysis and mental retardation One in 25 Jews of Eastern European origin is a carrier Incidence Varies with age; older women more susceptible (under 30: 1 in 1,500 births; 3539: 1 in 300 births) About 1 in 1,000 male births About 1 in 2,500 female births About 1 in 1,000 male births
Klinefelter syndrome Turner syndrome XYY syndrome
Sickle-cell anemia Cystic fibrosis
About 1 in 10 African-Americans is a carrier About 1 in 2,000 births
Phenylketonuria (PKU) Spina bifida
About 1 in 15,000 births About 1 in 1,000 births (depending on geographical area)
Human Genome Project Attempt to identify and map the 50,000 to 100,000 genes that constitute the human genetic endowment.
As we mentioned at the opening of the chapter, the history of the Human Genome Project is one filled with animosity, anger, and lingering bitterness. The clash of personalities alone testifies to the intense feelings generated by the pursuit of biologys holy grail. Not to be lost in the telling of this story, however, is admiration for the sheer power of the human intellect. The steady and unrelenting search for knowledgea network of hundreds of computers used in sequencing the genome, the irresistible accumulation of valuable data by such giants of biology as Watson, Collins, Venter, and Lander, among others, the genetic sequence of other speciesall combined to make the search one of the most productive in a long and rich biological tradition. For example, among the more basic facts we now know are these:
The busiest chromosome is chromosome 1, with 2,968 genes. The first letter (base) on chromosome 1 is G (Guanine). The most sparsely populated chromosome is the Y chromosome, which has only 231 genes. The DNA of any two humans is more than 99% identical. You have about 30,000 genes in the nucleus of about every cell in your body. (Red blood cells dont carry genes.) These 30,000 genes contain 3.2 billion base pairs (letters). (Smith, 2005)
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The first complete draft of the human genome promises great potential, although much work remains to be done. Identify the various benefits to come from HGP, but also identify potential problems.
When you see the sheer numbers involved, it helps you to understand the difficulties entailed in identifying and sequencing the Human Genome.
How the Human Genome Project Began

Two gatherings of Americas top biologists in the 1980s are credited as the forerunners of the project. In 1985, a group of scientists met at the University of California at Santa Cruz to discuss the possibility of mapping the human genome. Although many participants at this meeting were sure it could be done, they remained skeptical that it should be done, because of the enormous expense. Because of the widespread benefits that would come from the project, however, almost all the scientists present agreed that it deserved continued consideration. In March, 1986, a meeting of international scientists took place in Santa Fe, New Mexico. This meeting is considered to be the real beginning of the Human Genome Project. The National Institutes of Health (NIH), with the assistance of the Department of Energy (DOE), assumed leadership of the project (Shreeve, 2005). As a result of these meetings, the following goals were identified (McElheny, 2003).
Continued mapping of the human genomethat is, mapping the many thousand genes present in each chromosome. Identification of all the genes in the genome. Advance DNA sequencing. (Sequencing is the process of determining the order of A, T, C, and Gs along a DNA strand.) Development of new and improved technologies. Continued investigation of the ethical, social, and legal aspects of the project.
On June 26, 2000, Dr. Francis Collins (director of the National Genome Research Institute) and Dr. J. Craig Venter (president of Celera Genomics) announced at a White House ceremony that they had completed a rough draft of
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the human genome (the total number of human genes. As we have seen, it requires over 3 billion chemical letters (A, T, C, G) to identify the DNA instructions by which an individual develops from an embryo to an adult. Still, the rough draft of the human genome was only the beginning. It wasnt until three years later that the finished version appeared. On April 14, 2003, the Human Genome Project announced the completion of its finished version of the human code, two years ahead of the original projected finish in 2005. Timed to coincide with the fiftieth anniversary of the discovery of the DNA structure by Watson and Crick, the event was celebrated with a two-day orgy of symposia, speeches, and festivities in Washington with Francis Collins presiding and Watson himself the star of every gathering. (Shreeve, 2005, p. 367) Craig Venter was not invited to the celebration. Much remains to be done, but the Human Genome Project is revolutionizing biology, medicine, and pharmacology, to say nothing of its ethical, legal, and social ramifications. For example, forms of hypertension, schizophrenia, and Alzheimers have been targeted by an emerging drug therapy. The genes responsible for cystic fibrosis, Huntingtons disease, and Duchenne muscular dystrophy (DMD) have been identified, as well as the breast cancer susceptibility gene (BRCA1). Some genetic defects have been identified only days after fertilization. Despite controversy and some disappointing results, gene therapy continues to offer promise for treating hemophilia, certain forms of cancer, and babies with defective immune systems. The future seems bright (Watson, 2003). Although there are hundreds of diseases caused by a single gene, for thousands of other diseases, the genetic contribution is much more obscure. For example, some diseases need an environmental trigger (which may be the case for schizophrenia), whereas in other diseases, such as bipolar depression, several genes must interact (Watson, 2003). Studies of genetic susceptibility will undoubtedly follow the same pattern. The genes that make people susceptible to certain diseases do not, by themselves, cause disease (Weissman, 2002). Rather, the combination of a particular environmental factor with a particular gene is needed (Smith, 2005). Once the mechanisms that cause a susceptibility gene to spring into action are more fully understood, such preventative measures as screening techniques and drug therapy will save many lives. Could it be possible that at birth people will be given a DNA test and then issued a small card or computer chip that indicates what type of health problems they are likely to encounter? An interesting footnote to the history of the Human Genome Project: On April 17, 2002, two years after the announcement of the successful mapping of the human genome, J. Craig Venter disclosed that his genes were among those used in the mapping effort (Shreeve, 2003). In 2007 Venter published his entire sequenced genome.
Ethical, Legal, and Social Implications

Unfortunately, this explosion of knowledge is also leading to uncertain, hotly disputed consequences. As genetic testing of embryos and prospective parents expands, the controversies these tests carry with them generate considerable concern (Smith, 2005; Watson, 2003). For example:
The use of PGD (Preimplantation Genetic Diagnosis) has raised the issue of designer babies. Assume a child is born with a major disorder of unknown origin and parents fear the consequences of a second child. Should the parents undergo several rounds of IVF entailing the immediate diagnosis of many embryos? When the problem is identified, the positive embryos are transferred.
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ELSI (Ethical, Legal, and Social Implications) Program designed to study the ethical, social, and legal implications of the Human Genome Project.
With successful implantation and birth, blood cells from the second child can be transplanted to the first in hopes of curing the initial disease. Should companies be formed to recruit people to donate their DNA to help find genes that cause disease? If a family member is susceptible to a particular disease, do insurance companies have the legal right to deny this person, and perhaps the entire family, health insurance? Where are the lines drawn between public and private interests? How private/public is a persons medical history?
Grappling with this and similar issues has led the National Institutes of Health and the Department of Energy to join forces and create a program for studying the ethical, legal, and social implications of the Human Genome Projectthe ELSI program (Watson, 2003). Several of the issues that have been identified include the following.
We strongly recommend three excellent accounts of the Human Genome Project: James Watson (2003). DNA: The Secret of Life. New York: Knopf; James Shreeve (2005). The Genome War. New York: Ballantine; Gina Smith (2005). The Genomics Age. New York: American Management Association.
Fairness in the use of genetic information by insurers, employers, courts, schools, the military, and adoption agencies, among others. Who has access to this information, and how will it be used? Privacy and confidentiality of genetic information. Who owns and controls the information? Psychological impact. Is there any stigma attached because of a persons genetic make-up? Genetic testing. If theres a specific family history of a disorder, what is the role of genetic testing? How should people be informed about their predisposition to disease (Patenaude, Guttmacher, & Collins, 2002)? Reproductive issues. What role does genetic information play in decision making and reproductive rights? Clinical issues. What type of and how much education are necessary for health care providers? What are desirable standards and quality control measures? Commercialization. Who controls property rights and accessibility of data?
Finally, a good way to summarize our work in this chapter is to remember that the outcome of genetic action depends on its interaction with environmental experiences.
Guided Review
15. first made us aware of dominant and recessive characteristics. inheritance. disorder. disease are 16. When several genes contribute to a trait, this is called 17. Down syndrome is perhaps the best-known 18. anemia and examples of genetic disorders.
19. Mapping the human genes is the goal of the . 20. The results of the latest genetic research reinforce the belief that development is explained by the of genes and the environment.
Answers
15. Mendel 16. polygenic 17. chromosomal 18. Sickle-cell, Tay-Sachs 19. Human Genome Project 20. interaction
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chapter 3 Review
CONCLUSION & SUMMARY

In this chapter we explored the biological basis of each persons uniqueness. We considered not only the power and beauty of nature in establishing our genetic endowment but also the growing influence of technology. The genes the mother and father provide unite to produce a new and different human being. Yet this new life still shows many of the characteristics of both parents. We saw how this newness and sameness has challenged researchers for decades. Beginning with the discoveries of Mendel and still continuing, the secrets of hereditary transmission remain at the forefront of scientific endeavor, especially given the impetus of the Human Genome Project. Todays work, building on our knowledge of DNA, provides hope for the future while simultaneously raising legal and ethical questions that have yet to be resolved. The study of twins, especially monozygotic twins, has long fascinated psychologists. The increasing number of infertile couples has led to a growing demand for assisted fertilization. The most widely used assisted fertilization technique is AID (artificial insemination by donor). The success rate of assisted fertilization procedures has improved with increasing knowledge. Todays adoption procedures include both closed and open adoption. Chromosomal defects include Down syndrome, Klinefelter syndrome, and Turner syndrome. Genetic defects include Tay-Sachs disease, sickle-cell anemia, cystic fibrosis, phenylketonuria, and spina bifida.
What are the major features and anticipated uses of the Human Genome Project?
The Human Genome Project is an endeavor to map all genes. HGP will have major implications for the identification, prevention, and medication of disease. Ethical, legal, and social issues require resolution in the light of new discoveries.
What are the mechanisms of heredity, and what could go wrong?

Mitosis and meiosis are the means of cell division. DNA is the chemical key to life. Understanding how traits are transmitted requires a knowledge of the workings of dominant and recessive genes.
How does fertilization, both natural and assisted, occur?

Knowledge of hormonal control of the menstrual cycle is crucial for understanding fertilization.
KEY TERMS
adoption allele artificial insemination by donor (AID) assisted reproductive technologies (ART) blastocyst capacitation chromosome color blindness closed adoption codominance cryopreservation cystic fibrosis (CF) cytogenetics dizygotic DNA (deoxyribonucleic acid) dominant Down syndrome egg donation ELSI fallopian tubes fragile X syndrome gamete intrafallopian transfer (GIFT) gene genotype hemophilia Human Genome Project identical implantation incomplete dominance infertility internal fertilization intracytoplasmic sperm injection (ICSI) intrauterine devices (IUDs) in vitro fertilization (IVF) Klinefelter syndrome meiosis mitosis monozygotic mutation nonidentical open adoption ovulation phenotype phenylketonuria (PKU) polygenic inheritance recessive RNA (ribonucleic acid) sex-linked inheritance sexually transmitted diseases (STDs) sickle-cell anemia sperm donation spina bifida surrogate motherhood Tay-Sachs disease Turner syndrome zygote zygote intrafallopian transfer (ZIFT)
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WHAT DO YOU THINK?

1. Several controversies have occurred lately about surrogate mothers and the children they bear. Do you have any strong feelings about surrogacy? Can you defend it? Regardless of your personal feelings, can you present what you see as the pros and cons of surrogacy? 2. In your reading, perhaps you noticed that the process of in vitro fertilization depended on research findings from studies of the menstrual cycle. Can you explain this, paying particular attention to the administering of hormones and the timing of their administration? 3. James Watson and Francis Crick received a Nobel Prize for their discovery of the double-helix structure of DNA. Why is the discovery of DNA so important in our lives? Can you think of anything you have read about in the newspapers or seen on television that derives from this discovery?
CHAPTER REVIEW TEST

1. From ovulation to implantation takes about a. seven days. b. two weeks. c. one month. d. nine months. 2. The union of sperm and egg is known as a. mitosis. b. fertilization. c. meiosis. d. mutation. 3. In vitro fertilization takes place a. in the fallopian tube. b. in the uterus. c. outside the womans body. d. in the ovary. 4. The process by which eggs are ripened and released is called a. ovulation. b. mitosis. c. fertilization. d. implantation. 5. Each sex cell carries a total of chromosomes. a. 23 b. 24 c. 47 d. 46 6. twins are likely to occur when a womans ovaries release two ripened eggs that are fertilized by separate sperm. a. Nonidentical b. Identical c. Siamese d. Monozygotic 7. Which factor is not thought to be a cause of infertility in men? a. influenza b. low sperm count c. defective sperm d. genetic disease 8. Which of these statements is true? a. XX indicates male. b. XY indicates male. c. XO indicates male. d. X-indicates male. 9. Which of these is an example of a genetic disorder? a. sickle-cell anemia b. Turner syndrome c. Klinefelter syndrome d. Down syndrome 10. When a natural mother relinguishes her child but retains input into the process of adoption, its called adoption. a. closed b. foreign c. selected d. open 11. Which of the following is an example of a chromosomal disorder? a. spina bifida b. sickle-cell anemia c. phenylketonuria d. Turner syndrome 12. is the most widely used assisted fertilization technique. a. IVF b. AID c. ATCG d. BRCA1
13. Which combination is not possible? a. AT b. TA c. GT d. GC 14. DNA possesses the remarkable ability to itself. a. accommodate b. reproduce c. assimilate d. disengage 15. Which of the following populations is more likely than others to be afflicted with sickle-cell anemia? a. European-Americans b. African-Americans c. Asian-Americans d. Hispanic-Americans 16. Down syndrome is caused by a. the bodys failure to break down amino acids. b. the fragile X syndrome. c. a deviation on the 21st pair of chromosomes. d. an XO pattern.
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17. An example of sex-linked inheritance includes a. PKU. b. neural tube defects. c. Tay-Sachs disease. d. hemophilia. 18. The Human Genome Project is an endeavor to identify and map a. certain substances within cells. b. all human genes. c. cell divisions. d. sex-linked inheritance.
19. Which of the following is not suspected of having a strong genetic origin? a. polio b. epilepsy c. diabetes d. cancer 20. The chromosome with the fewest genes is a. chromosome 1 b. x chromosome c. z chromosome d. y chromosome
chapter 3 Review
Answers
1. a 2. b 3. c 4. a 5. a 6. a 7. a 8. b 9. a 10. d 11. d 12. b 13. c 14. b 15. b 16. c 17. d 18. b 19. a

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What are some of the major discoveries and implications of the Human Genome Project?

What are some of the major discoveries and implications of the Human Genome Project?

What are some of the mechanisms of heredity and what could go wrong genetically?

What are some of the mechanisms of heredity and what could go wrong genetically?

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Part Two Beginnings

THE BIOLOGICAL BASIS OF DEVELOPMENT

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development

THE FERTILIZATION PROCESS

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

Day 5 Day 7 Day 10

Thus, natures toll results in about a 70% mortality rate.

dizygotic twin Nonidentical twin.

monozygotic twin Identical twin.

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

Assisted Reproduction Technologies

capacitation Removal of layer surrounding sperm.

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development

Foreign AdoptionAn Odyssey

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

7. A form of adoption that today is becoming more popular is adoption.

1. Fertilization 2. zygote 3. ovaries 4. in vitro 5. AID 6. 10 7. open

DaceyTraversFiore: Human Development Across the Lifespan, Seventh Edition

3. The Biological Basis of Development

The McGrawHill Companies, 2009

The Biological Basis of Development