Genetics Lec Reviewer
Genetics Lec Reviewer
Genetics Lec Reviewer
Lecture One
Genetics: The Science of Heredity and Variation
Learning Objectives
1. Define Genetics.
2. Compare and contrast heredity and variation.
3. Enumerate the different fields of genetics
4. Discuss the different methods used in genetic study.
5. Trace the historical development in Genetics.
6. Explain the practical applications of Genetics.
7. Construct a family tree or pedigree using the assigned human trait.
The term Genetics was coined by An English Biologist William Bateson in 1905. It is
derived from the Greek word gen which means to produce, to become or to grow into something.
Genetics can be defined as a field of biological sciences that deals with the study of heredity and
variation in all organisms. Heredity is the transmission of genes from parents to offspring from
generation to generation through the process of reproduction. On the other hand, variation refers
to differences among organisms belonging to the same species. Variation among individuals of
the same species is very common. The science of genetics examines how the genes are passed on
from parents to offspring and attempt to explain the observed similarities and differences among
related organisms.
Fields of Genetics
Genetics as a field of biological sciences can be divided into different fields or disciplines
namely: classical genetics, molecular genetics, population genetics, quantitative genetics and
cytogenetics.
1. Classical Genetics is the oldest field of genetics which is concern with the transmission
of traits from generation to generation.
2. Molecular Genetics deals with structure and function of genes at the molecular level.
3. Population Genetics studies the distribution and behavior of genes within and between
populations.
4. Cytogenetics is a combination of cytology and genetics. Literally, it is the study of the
genetics of the cell. It is concern with the study of the structure and function of the cell,
especially the chromosomes.
5. Quantitative Genetics is concern with the study of continuously measured characters or
traits such as height, weight, yield etc.
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Types of Variation
No two organisms are exactly alike. They exhibit certain degree of differences. Variation
is important because it allows some individuals to adapt to the changing environment. It also
causes evolution. The variation among individuals can be categorized into morphological,
physiological, behavioral and sexual.
2. Physiological variation is the difference in the functioning of the body parts. This type
of variation may include ability to taste chemicals, detect odor, distinguish color,
differences in hormones and blood pressures, etc.
4. Sexual Variation or Sexual Dimorphism is the difference between male and female
such as size, color, voice etc. Table 1.1 presents the principal differences between male
and female drosophila.
Table 1.1 Differences between male and female fruit fly (Drosophila melanogaster)
Causes of Variation
The observed variation among individuals is due to genetics, environment and interaction
between genetics and environment.
1. Genotype
Genetic variation is the difference in the genetic composition of the organism. Below is a
summary of different causes of genetic variation within individual and within the population.
2. Environment
Environment is the surrounding or conditions in which the organisms have been
developed. Environmental factors may include temperature, food, light, lifestyle and other
external factors. Two individuals who are genetically identical can be phenotypically different
due to differences in environment.
2. Pedigree Analysis
Pedigree analysis is an approach to determine the mode of inheritance of a gene in human.
Pedigree or family tree is a diagram that depicts the inheritance of a trait through several
generations. Figure 1.2 shows a typical pedigree or family tree.
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Figure 1.2. Sample Pedigree (Source: National Human Genome Research Institute, USA)
3. Karyotyping
Karyotyping is a process to analyze the chromosome composition of the organism. It is
used to determine the normal chromosome number, establish new species and detect
chromosomal aberration. Figure 1.2 shows a karyogram of a normal male.
4. Twin Study
Twin study is a method to determine the importance of environmental and genetic
influences for traits. It is conducted on identical (monozygotic) and fraternal (dizygotic) twins.
Identical twins are derived from a single zygote while fraternal twins result from fertilization of
two ova. High degree of concordance (both posses or are free of a particular trait) among
identical twins reared apart would mean greater roles of genes than environment while greater
concordance between fraternal twins reared together would mean greater role of the
environment.
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Application of Genetics
Ramirez et al. (2019) listed four applications of Genetics namely: plant and animal
improvement, medicine, legal application and genetic counselling.
2. Medicine
Advances in Genetics have made it possible to identify diseases and abnormalities with
genetic basis. This information is very important so that preventive measures can be undertaken.
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3. Legal Applications
Genetics may be used in lawsuit such as paternity testing, forensics and identification of
individual. DNA profiling can be used to establish or rule out identity, relationship or ancestry.
4. Genetic Counseling
The patients or relatives at risk of an inherited disorder are advised of the consequences
and nature of the disorder, the probability of developing or transmitting it, and the options open
to them in management and family planning.
References
Learning Objectives:
8. identify and give the functions of the different parts of the cell.
9. illustrate the different types of chromosomes according to the location of
the centromere.
10. discuss the major events in each stage of mitosis and meiosis.
11. explain the behavior of the chromosomes in mitosis and meiosis.
12. compare and contrast mitosis and meiosis.
13. explain the importance of mitosis and meiosis in heredity and variation
All organisms are made up of one or more cells. The cell can be categorized into two
types namely: prokaryotic and eukaryotic. The prokaryotic cell can be found in bacteria and
cyanobacteria while the eukaryotic type can be observed in plants, animals, fungi and protists.
In prokaryotic cell, the chromosomes are not contained within a membrane bound nucleus. The
chromosomes are located in a region of the cytoplasm known as the nucleoid. On the other hand,
the nucleus in eukaryotic cell is surrounded by a nuclear membrane so that the nucleus can be
seen distinctly. The nuclear membrane separates the nuclear material from cytoplasmic material.
Membrane bound organelles such as endoplasmic reticulum; mitochondria, Golgi apparatus,
chloroplast, lysosomes etc. are present. All cells are composed of four key components: plasma
membrane, cytoplasm, DNA and ribosomes.
7. Nucleus is the largest and most conspicuous organelle present in eukaryotic cell surrounded
by a double membrane. It contains most of the genetic materials. The nucleus controls the
different activities of the cell.
2.1 Nuclear membrane is a double membrane enclosing the nucleus. This membrane
separates the cytoplasm from the nucleoplasm.
2.2 Nuclear pores are many tiny openings in the nuclear membrane that serve as an avenue
for the exchange of materials between the nucleus and cytoplasm.
2.4 Chromatin is a complex of DNA and histone proteins that makes up the chromosomes.
Chromosome is a threadlike structure that contains the genetic information of the organism.
5. Cytoplasm is part of the cell surrounding the nucleus where several organelles are present.
Organelles are concern with active function and their presence or size may vary between
different organisms and different tissues.
3.2. Golgi apparatus consists of stack of flat membranous sacs which is involved in
packaging, modification and transport of molecules.
3.3. Endoplasmic reticulum is a network of tubules and flattened sacs. The endoplasmic
reticulum can be classified into smooth endoplasmic reticulum (SER) and rough endoplasmic
reticulum (RER). The SER is free of ribosomes while in RER the ribosomes are attached to the
membrane. The SER is involved in lipid metabolism, carbohydrate metabolism and
detoxification while RER is involved in protein synthesis.
3.4. Lysosome is a membraned bound organelle that contains digestive enzymes which can
digest different macromolecules.
3.5. Ribosomes are small particles which are the main site of protein synthesis. They may be
floating or attached to the ER. The ribosomes consist of two subunits which differs in
sedimentation coefficient. In bacteria, the smaller sub unit is characterized by 30S and the large
sub unit is 50S. In eukaryotic cells like plant and animal cells, the large and small sub units have
sedimentation coefficient of 60S and 40S, respectively.
3.6. Centriole is a cytoplasmic organelle involved in the formation of spindle fibers during cell
division.
3.8. Cytoskeleton is a network of tubules and filament s that gives shape, provides strength
and anchors the organelles and provides mechanical support that allows the cell to move and
divides. It consists of microtubules, intermediate filament and microfilament.
Figure 2.1. Prokaryotic Cell ( Photo Credit: Khan Academy. Org)
Figure 2.2. Animal and Plant Cell (Photo Credit: Encyclopedia Britannica Inc., 2012)
Chromosome Structure
The chromosome contains the genetic material of the organisms. The number of
chromosomes present in the cell vary from species to species. Table 2 shows the number of
chromosomes present in selected organisms.
Parts of Chromosome
3. Kinetochore is a protein associated with centromere which serves as the attachment of the
spindle fiber during cell division.
4. Secondary constriction is the constricted or narrow region found at any point of the
chromosomes other than the centromere.
5. Satellite is a bulge on the telomeric end with repetitive, heterochromatic DNA sequences.
Classification of Chromosomes
Chromosomes can be classified based on the size (small, medium and large) and location
of the centromere. The centromere (Figure 2.4) can be located at the terminal end (telocentric);
near the terminal end (acrocentric); near the center (submetacentric) and at the center
(metacentric). Moreover, the chromosomes can also be classified into somatic chromosomes
(autosomes) and sex chromosomes. The autosomes control somatic character of the body while
the sex chromosomes determine the sexuality of the individuals. In human, there are 22 pairs of
autosomes and 2 sex chromosomes. Individuals with XX chromosome are females while those
with XY chromosomes are males.
Cell Cycle
The cell cycle is a series of events that takes place in a cell as it grows and divides. It is an
ordered sequence of events from the time a cell is first formed from a dividing parent cell until
its own division. It consists of two major phases: i nterphase (G1, S and G2 phases) and M
phase (Figure 2.5). The interphase is the stage between cell divisions. During this period the cell
grows, develops and functions. The M phase is divided into karyokinesis (nuclear division or
mitosis) and cytokinesis (division of the cytoplasm). The cell cycle is very important because all
the genetic materials are passed from parent to daughter cell.
Figure 2.5. The Cell Cycle (Photo Credit: Khan Academy. Org)
A. Mitosis
Prophase Metaphase
Anaphase Telophase
Figure 2.5. Stages of Mitosis (Photo Credit: Lewis. 2009. Human Genetics)
B. Cytokinesis
Genetic Consequences
Mitosis and cytokinesis produced two daughter cells with the same number of
chromosomes with that of the parental cells. Each cell produced has a full complement of the
chromosomes. Barring mutation, the two cells are genetically identical.
2. Meiosis
At maturity, organisms that reproduce sexually, formed gametes in the gonads (testes in
male and ovaries in female) of animals and stamens and pistils of plants. Chromosome
transmission from parents to offspring is accomplished by fertilization of haploid (n) gametes to
form a diploid (2n) zygote. The chromosome number remains constant from generation to
generation due to a process known as meiosis that reduces the chromosome number prior to
fertilization. Meiosis occurs during gametogenesis in animals (spermatogenesis in male and
oogenesis in female) and sporogenesis in higher plants. Microsporogenesis is the formation of
male gametophyte while megasporogenesis is the formation of female gametophyte.
Similar to mitosis, meiosis is also preceded by G1, S, and G2 phases of the cell cycle. It
consists of two successive nuclear division cycles. The first involves the separation of
homologous chromosomes resulting in two haploid nuclei. On the other hand, the second
division results in the formation of four haploid nuclei.
A. Meiosis I is the first part of meiotic division in which the chromosome number is reduced from
diploid (2n) to haploid (n). It consists of Prophase I, Metaphase I, Anaphase I and Telophase I.
5. Prophase I. The cells gradually increase in size. Each chromosome contains two duplicates
coiled to each other. It is the longest and most complex phase.
1.1. Leptotene. The chromosomes begin to condense and appear as long and thin threads.
Beadlike granules called chromomeres can be observed along the length of the chromosomes.
1.2. Zygotene. Homologous chromosomes pair with each other. This process is called
synapsis. The synapsed chromosomes form a bivalent consisting of four chromatids.
Synaptonemal complex is formed in this stage.
1.3. Pachytene. Crossing over or exchange of chromosome segment occurs between non
sister chromatids of homologous chromosomes. The point of contact between two chromatids is
called chiasma (plural = chiasmata). Crossing over is an important source of genetic variation in
the populations.
1.4. Diplotene. The chromatids continue to shorten and thicken and the synaptonemal
complex starts to disintegrate. The homologous chromosomes separate starting from centromere
and proceed toward both ends except at the chiasma.
1.5. Diakinesis. The chromosomes become shorter and thicker due to condensation. Nuclear
membrane and nucleolus disappear at the end of diakinesis. The centrioles move toward the
opposite side of the cell and the spindle fibers are formed.
Figure 2.7. Different stages of Prophase I of Gesonula punctifrons. leptotene (A), zygotene
(B), pachytene (C), diplotene (D) and diakinesis (E) (Photo Credit: Devi and Chingangban,
2017)
2. Metaphase 1. The bivalents aligned themselves at the middle of the cell (equatorial plane).
3. Anaphase I. The univalent in each bivalent separates and moves toward the opposite side of
the cell.
4. Telophase I. Two haploid nuclei are formed. Nucleolus and nuclear membrane reappear.
Chromosomes uncoil and lengthen. Cytokinesis may follow.
B. Meiosis II is the second part of meiotic process which is similar to mitosis except that the
chromosome number is haploid.
1. Prophase II. Similar to mitotic prophase. Chromosomes contract; the nucleus and nuclear
membrane disappear.
2. Metaphase II. Similar to mitotic metaphase. Chromosomes are located at the middle of the
cell.
3. Anaphase II. Similar to mitotic anaphase. The sister chromatids move toward the opposite
side of the cell.
4. Telophase II. Similar to mitotic telophase. The chromosomes uncoil and lengthen; reappearance
of nucleolus and nuclear membrane. Four haploid nuclei are formed. Cytokinesis follows.
Genetic Consequences
Meiosis reduces the number of chromosomes from diploid (2n) to haploid (n) so that the
chromosome number of the species is maintained from generation to generation. Crossing over or
exchange of chromosome segment between non sister chromatids of homologous chromosomes and
random separation of homologous generates genetic differences among the cells produced.
The life cycle of flowering plants consists of sporophyte and gametophyte stage. The diploid
sporophyte (2n) produces haploid spores by meiosis in sporangia. These grow into haploid
gametophyte. The haploid gametophyte (n) produces haploid (n) gametes (sperm and egg) by
mitosis. The gametes fuse to form a zygote which develops into a multicellular sporophyte.
Module Three
Patterns of Inheritance
Learning Objectives
Gregor Mendel (1822-1884), was an Augustinian monk born in Austria in 1822. He studied in University
of Vienna, where he learned the scientific method. Mendel worked on hybridization of garden peas (Pisum sativum).
He studied the inheritance of several traits in garden pea. He chose this plant material because several varieties with
different physical characteristics were available; easy to grow and hybridize artificially. It has many clearly distinct
and contrasting characters. It is self-fertilizing in nature and large number of progenies can be produced in a short
time. From 1856-1864, he performed thousands of crosses. Mendel selected the following characters, each of which
occurred in two alternative forms.
Mendel’s Experiment
Mendel crossed a true breeding tall pea plant and dwarf pea plant to obtain the first filial generation (F1).
The F1 consisted of all tall pea plants. After obtaining the F1 progeny, he allowed the plants to self-fertilized and
observed and counted the F2 progenies. In this generation, he obtained ¾ or 75% tall and ¼ or 25% dwarf. Mendel
repeated the experiment using other traits of garden pea. The results of his experiment is presented in Table 3.1.
Based on the results of his hybridization works, Mendel formulated the following principles of inheritance:
2. Principle of Dominance
When two unlike unit factors responsible for a single character are present in a single individual, one unit
factor is dominant to the other, which is said to be recessive.
3. Principle of Segregation
During formation of gametes, the paired unit factors separate or segregate randomly so that each gamete receives
one or the other with equal likelihood.
In order to understand the different Mendel’s principles of genetics, you must be familiar with the following terms.
5. Heterozygous – an individual with two different alleles for a trait. This is represented as Aa
6. Phenotype is the physical appearance of the individual such as tall, black, dwarf, etc.
7. Genotype is the genetic make-up of the organism. This is usually symbolized using the letters of the alphabet.
By convention, the first letter of the dominant trait is used. For example, TT for homozygous tall, Tt for
heterozygous tall and tt for recessive dwarf.
8. Dominant allele – allele that is expressed and it prevents the expression of the other allele which is said to be
recessive.
Monohybrid Cross
The law of segregation can be explained by monohybrid cross. Monohybrid cross is cross which involved
only one pair of contrasting trait. This is done by mating individuals from two parent strains, each of which exhibits
one of the two contrasting forms of the character under study. The original parents are called P1 or parental
generation, their offspring are the F1 or first filial generation, and the individuals resulting from the selfing of the
F1 are called F2 or second filial generation.
Figure 3.1 shows a monohybrid cross between homozygous yellow and homozygous green. The genotype
of the first parent (P1) is YY while the second parent (P2) is yy. P1 produces Y gamete while P2 forms y gamete.
During fertilization, Y gamete combines with y gamete to produce a heterozygous yellow (Yy) F1 offspring. The
heterozygous F1 offspring produces two kinds of gametes: Y and y. Self-pollination of the F1 produces F2 progenies
consisting of homozygous yellow (YY), heterozygous yellow (Yy) and green (yy). The phenotypic ratio is 3
yellow : 1 green while the genotypic ratio is 1 YY: 2 Yy : 1 yy.
Test Cross
Test cross is a cross used to determine the genotype of an individual with a dominant phenotype. A cross is made
between an individual whose genotype at one or more loci may be unknown and an individual who is homozygous
recessive for the gene in question. When an individual with dominant phenotype is homozygous, all the offspring of
the test cross will show the dominant phenotype. However, when the individual with dominant phenotype is
heterozygous, 50% (1/2) of the test cross progeny will show the dominant phenotype and the remaining 50% (1/2)
will show the recessive phenotype. For example, a dominant yellow pea plant has two possible genotypes:
homozygous yellow (YY) and heterozygous yellow (Yy). Phenotypically, one cannot identify whether the individual
is heterozygous or homozygous. Figure 3.2 shows a test cross between a yellow plant whose genotype is unknown
and a homozygous green plant. Getting an all yellow offspring indicates that the parent is homozygous while
obtaining 1 yellow : 1 green offspring indicates that the parent is heterozygous.
Figure 3.2. Test Cross (Source: https://bio.libretexts.org)
Dihybrid Cross
The law of independent assortment can be studied in a dihybrid cross. Dihybrid cross is a cross involving
two characters in which the parents possess different forms of each character. One way of solving this problem is
through the use of Punnet square method. This method was invented in early 20 th century by English geneticist
named Reginald Punnett. This is a simple graphical way of discovering all of the potential combinations of
genotypes that can occur in children, given the genotypes of their parents.
As shown in Figure 3.3, a yellow, round pea plant is crossed with a green, wrinkled pea plant. The first
parent (P1) produces YR gamete while the second parent (P2) forms yr gamete. At fertilization, YR gamete fuses
with yr gamete to form all yellow, round (RrYy) F1 offspring. The F1 offspring produces four kinds of gametes:
YR, yR, Yr, yr. Self-fertilization of the F1 produces the F2 offspring. Since both parents produce four different kinds
of gametes, 16 gamete combinations are possible. The F2 phenotypic ratio is 9 yellow, round, 3 yellow, wrinkled, 3
green, round and 1 green, wrinkled (Figure 3.3) while genotypic ratio of 1YYRR : 2YYRr: 1YYrr : 2YyRR : 4YyRr
: 2YyRrr :1yyRR : 2yyRr : 1yyrr.
PR = 9:3:3:1
You can also apply the same procedure in determining the genotypic ratio. Take the genotype
independently. For example, in a dihybrid cross: RrYy x RrYy, get the outcome of crossing the first gene pair (Rr
x Rr) which is 1RR, 2 Rr, 1 rr and then take the outcome of the cross: Yy x Yy which is 1YY, 2Yy and 1 yy. The
process of getting the genotypic ratio using the forked line method is illustrated in Figure 3.5.
1 YY à 1 RRYY 1RR
2 Yy à 2
RRYy
1 yy à 1 RRyy
1 YY à 2 RrYY
2Rr 2 Yy à 4 RrYy
1 yy à 2 Rryy
1 YY à 1 rrYY
1rr 2 Yy à 2 rrYy
1 yy à 1rryy
GR = 1:2:1:2:4:2:1:2:1
Probability is the chance that an event will occur in the future. The probability values range from 0 to 1;
where a zero probability means that the event is certain not to occur while 1 means the event is certain to occur.
Probability can be expressed as a decimal number, perentage or a fraction. The formula in determining the
probability is shown below:
P (head) = 1 head
1 head + 1tail
= ½ or 0.5 or 50%
P (king) = 4/52
= 1/13 or 0.076 or 7.69%
Rules of Probability
Example:
In tossing two coins, what is the probability of getting a head and a tail?
Solution:
P (head) = ½
P (tail) = ½
P (head and tail) = (1/2) (1/2)
= ¼
Solution:
p = p (head) + p (tail)
p= (1/2) + (1/2)
=1
3. Binomial Probability
Binomial probability is special probability that represents all of the possibilities for a given set of unordered events.
Example: In a family of five children, what is the probability having 3 daughters and two sons?
A cross is made between two true-breeding round, yellow and wrinkled, green garden pea (RRYY x rryy).
The F1 generation are then allowed to self-fertilize to produce an F2 generation consisting of 198 round, yellow; 75
round green; 67 wrinkled, yellow; and 28 wrinkled, green with a total of total 368 plants. Does this fit the 9:3:3:1
ratio?
1. Propose a hypothesis that allows us to calculate the expected values based on Mendel’s laws.
Ho: The observed phenotypic ratio fits the expected phenotypic ratio
Ha: The observed phenotypic ratio does not fit the expected phenotypic ratio.
2. Calculate the expected number of the four phenotypes, based on the hypothesis. According to our hypothesis,
there should be a 9:3:3:1 ratio in the F2 generation
4. Determine the tabulated value ( tab) using chi square table at 5 % level of significance and degrees of
freedom using the formula, df = n - 1 where n is the number of phenotypic classes. Based on the table below, the
chi square tabulated value at df of (4-1) 3 is 7.815. The computed chi square (X2)value is lower than the chi
square (X2) tabulated value.
5. Interpret the results
Since the X2 computed value is less than the X2 tabulated value we will accept Ho which means that the
observed phenotypic ratio is consistent with the 9:3:3:1 ratio.
Module 3.2 Extension of Mendelian Principles and Gene Interaction
Mendel studied traits with only one mode of inheritance in pea plants. The inheritance
followed simple pattern of dominant and recessive allele. As more and more experiments were
performed, there are crosses that do not follow the Mendelian ratios. These observations did not
in anyway disprove Mendel’s principles, rather, they extended and developed them.
1. Incomplete Dominance
Pattern of inheritance in which the dominant phenotype is not fully expressed in the
heterozygous individuals. The heterozygotes are phenotypically intermediate between the two
homozygous parents. Example is the flower color in snap dragon
P: RR X rr
red white
F1: Rr
all pink
F2 : 1RR, 2 Rr, 1 rr
red, pink white
PR - 1: 2 :1
GR - 1: 2: 1
2. Over dominance
The heterozygotes exceed the phenotypic expression of the homozygous parents.
Overdominance can also be described as heterosis or hybrid vigor wherein the heterozygote is
better than the homozygous parents.
Example
Sickle cell anemia is an autosomal recessive disorder. The affected individuals produce
abnormal form of hemoglobin. This trait is governed by two alleles: HbA that encodes the
normal hemoglobin, hemoglobin A and HbS that encodes the abnormal hemoglobin,
hemoglobin S. HbSHS individuals have red blood cells that deform into a sickle shape under
conditions of low oxygen tension. HbAHbA individuals have normal red blood cells. HbAHbS
individuals are “better” than HbAHbS than homozygous parents because they do not suffer from
sickle cell anemia and more resistant to malaria.
P: HbAHbA x HbSHbS
Normal hemoglobin A abnormal hemoglobin
F1 HbAHbS
Normal hemoglobin and resistant to malaria
3. Co-dominance
Inheritance characterized by full expression of both alleles in the heterozygote.
Heterozygotes exhibit a mixture of phenotypic characters of both homozygotes instead of a
single intermediate expression. Example is the coat color in cattle.
P: CRCR x CWCW
red white
PR = 1 : 2 : 1
GR = 1 : 2 : 1
4. Multiple Alleles
Multiple allele is a case in which genes have more than two alternative form of a gene (allele).
The inheritance of ABO blood group is an example. This blood group is governed by three
alleles (Table 3.2) namely: IA (A antigen on surface of RBC, IB (B antigen on surface of RBC), i
(O antigen on surface of RBC).
Table 3.2 Genotype, Blood Type and Antibody in ABO Blood Group
P: IAi x IB i
blood type A blood type B
F:
IB I
A A
I IAIB I i
I IBi Ii
PR: 1 A : 1 B: 1 AB and 1 O
GR: 1:1:1:1
Another example of multiple allele is the one that controls coat color in rabbit. The fur
color is governed by four alleles: C (agouti), cch (chinchilla), ch (Himalayan) and c (albino). The
dominance hierarchy is as follows: C > cch > ch > c.
5. Lethal Genes
Lethal genes are genes that can cause death to the individual that carries them. Death
may occur at any stage of development or life. Some genes may cause lethality at early in life
while others in the later stage of development. Tay Sach’s disease is lethal at the age of 3 or 4
while Huntington’s disease may not be lethal until middle age. The lethal gene may be a
dominant or a recessive gene.
P: Cc x Cc
(creeper) (creeper)
F: 1 CC 2Cc 1 cc
dead creeper normal
Since the homozygous dominant creeper is dead, the modified ratio is 2/3 creeper :1/3
normal.
2. Recessive lethal genes can cause lethality when present in homozygous recessive condition.
These genes can code for either dominant or recessive traits, but they do not actually cause death
unless an organism carries two copies of the lethal genes (Lobo, 2008). Examples include cystic
fibrosis, sickle cell anemia and achondroplasia. Figure 3.4 shows how recessive lethal gene is
inherited when two yellow mice were crossed.
Figure 3.4 Cross involving recessive lethal (Source: Pierce, 2012)
Gene Interaction
Bateson and Punnett discovered that genes were not merely separate elements producing
distinct individual effects, but they could interact with one another giving entirely different
phenotypes. Gene interactions occur when two or more different genes influence the outcome of
a single trait. These interactions produced modified phenotypic rations different from those of
independent assortment.
1. Novel Phenotype:
Complete dominance in both gene pairs. New phenotypes arise from interaction of between
dominants and between homozygous recessive. This type of interaction can be found in fruit
color of bell pepper, Capsicum anuum.
P: Y+Y+C+C+. x yycc
red cream
F1: Y+yC+c
red
Another example of novel phenotype is comb shape in poultry. The comb shape can be
rose, pea, walnut and single.
P: RRpp (rose) x rrPP (pea)
F1 : RrPp (walnut)
F2:
9 R_P_ (walnut)
3 R_pp (rose)
3 rrP_ (pea)
1 rrpp (single)
PR = 9:3:3:1
2. Recessive Epistasis
In this case there is complete dominance in both gene pairs, but one gene, when homozygous
recessive hides the effect of the other gene. An example of this gene interaction is the coat color
in labrador retriever.
P: BBEE x bbee
Black yellow
F1 BbEe
Black
F2 9 B_E_ black
3 B_ee yellow
3 bb E_ brown (chocolate)
1 bbee yellow
PR = 9:3:4
P: WWyy x wwYY
White yellow
F1: WwYy
White
F2: 9 W_Y_ white
3 W_yy white
3 wwYY yellow
1 wwyy green
PR: 12:3:1
P: IICC x iicc
White leghorn white Wyandotte
F: 9 I_C_ white
3 I_cc white
3 iiC_ colored
1 iicc white
PR: 13:3
P: PPCC x. ppcc
purple white
F1: PpCc
Purple
PR: 9:7
F1 AaBb
triangular
PR 15:1
The phenotype of an organism is a product of interaction of its genes and the environment.
Gene expression in an organism can be influenced by the internal and external factors. The
external factor refers to the environment where the organism grows and develop. On the other
hand, internal environment is the factor within the organism which may include hormones and
metabolic activities.
A. External Environment
1. Temperature
The rate of chemical reaction is influenced by temperature. Increase in temperature increases the
rate of chemical reaction. Temperature can influence gene expression. For instance, in
Himalayan rabbit, gene C is required for the development of pigment in fur, skin, eye. This gene
is regulated by temperature so that it is inactive above 30 oC and maximally active at 15 to 25
o
C. Rabbit reared at 20 oC has pigmentation on its ears, nose and feet, while rabbit reared at
temperature above 30 oC has no pigmentation (Figure 3.8).
Figure 3.6 Corn exposed to sunlight (A) and retarded light (B)
3. Nutrition
The presence of chemicals or drugs in the environment of the organisms can also affect
the expression of the gene.
3.1. Normally, Fundulus heteroclytus have two eyes, however, when the eggs were placed in sea
water mixed with magnesium chloride, half of the eggs produced one eyed embryos.
3.2 Intake of thalidomide of pregnant women during sixth week of pregnancy resulted to babies
with deformities.
3.3 Presence of yellow fat in rabbit is dependent on the presence of homozygous recessive gene
yy and green vegetables in the diet. When fed with other diet, yellow fat is not produced.
3.4 Deficiency of folic acid in pregnant women causes birth abnormalities.
B. Internal Environment
1. Age
All genes of the organism are present at fertilization. However, their effect are
manifested at different stages of development. There are genes that are expressed early while
others are manifested later in life. For instance, pattern baldness is usually manifested at 20 to
30 years old while diabetes mellitus at 40 to 60 years old.
2. Sex. The sex of the individual can also affect the expression of the gene.
2.1 Sex influenced traits are autosomal traits that are expressed differently in male
and
females. It is commonly observed in one sex. The allele is dominant in one sex but is recessive
in the other sex. Pattern baldness and presence of beards on some goats are examples of sex
influenced traits.
2.2 Sex limited traits are autosomal traits in which the expression is limited to one
sex due to physiological or anatomical reasons. Feather plumage in chicken is an example of
sex limited trait. This is caused by an autosomal gene. Hen-feathering is controlled by a
dominant allele expressed in both sexes while cock-feathering is controlled by a recessive
allele only expressed in males. Table 3.1 shows the phenotypic expression of different
genotypes for plumage in male and female chicken.
Definition of Terms
1. Modifier gene is a gene that can modify the expression of another gene. This can be
observed in mouse coat color. Dominant gene B produces black color while the recessive gene b
gives brown color. The intensity of the color is governed gene D. Dominant gene D controls full
color while the recessive gene b dilutes or fades the expression of the color gene.
P: BBDD x bbdd
black dilute brown
F1 BbDd
Black
2. Expressivity is the degree of gene expression. There are individuals in which both eyes
are affected by retinoblastoma while in some only one eye is affected.
3. Penetrance is the proportion of individual with a given genotype showing the expected
phenotype. For example in human ABO blood group and diabetes mellitus inheritance have
100% penetrance and 67% penetrance, respectively.
4. Pleiotropy is a condition in which a single gene has more than one phenotypic effects.
Example is an individual with hereditary Marfan’s syndrome. The individual may have
seemingly unrelated symptoms such as unusually tall height, thin fingers and toes, dislocation of
the lens of the eye, and heart problems.
Ramirez et al. (2019) defined genetic linkage as a measure of the tendency of some
genes to be inherited as a group rather than individually because of the proximity of their loci
in the chromosome. Linkage can be complete or incomplete. In incomplete linkage, the genes
are so closely associated so that they are always inherited together while in incomplete linkage,
the gene pairs assort at least partially of each other. Recombination on the other hand, is the
creation of new combinations of alleles at two or more loci through independent segregation of
genes on different chromosomes and crossing-over between genes on same chromosome.
Discovery of Linkage
Bateson and Punnett (1905) noted that the traits for flower color and pollen shape in
sweet pea plants appeared to be linked together. They crossed red flower, long pollen (PPLL)
and white flower, round pollen (ppll) sweet peas and self-fertilized the F1 (red flower long
pollen) to obtain the F2 generation. The F2 consisted of 296 purple long; 19 purple round; 27 red
long and 85 red round. Instead of getting the expected phenotypic ratio of 9:3:3:1 they obtained
many phenotypes similar to the original parents and fewer non parental types. They suggested
that the transmission of the two traits from the parents was somehow coupled. The two traits are
not easily assorted in an independent manner. However, they did not realize that the coupling is
due to the linkage of the two genes on the same chromosome.
The first direct evidence of linkage came from studies of Thomas Hunt Morgan. Morgan
investigated several traits that followed an X-linked pattern of inheritance. Morgan crossed
purple eye, vestigial wings with red eye normal wings (Figure). Instead of getting the F2, he
used a test cross for both genes simultaneously.
F1
Coupling gametes are gametes with either with two wild types (pr+vg+) or two mutant alleles.
On the other hand, repulsion gametes are those with one wild type and one mutant allele (pr+pr
vg+vg)
Recombination rate
The three point test cross is an efficient method used to determine the order and
distance of gene. For example, a test cross involving three autosomal genes in drosophila was
performed as shown below:
P: vg b pr x vg+ b+ pr+ vg
b pr vg+ b+ pr+ The
following data were obtained:
Genotype Number
vg b pr 1779
vg+ b+ pr+ 1654
vg+ b pr 252
vg b+ pr+ 241
vg+ b pr+ 131
vg b+ pr 118
vg b pr+ 13
vg+ b+ pr 9
1. Write the phenotypes, genotypes and progeny produced in a three point test cross.
2. Identify the cross over type of the progeny. The parental or non-recombinant type has the
highest frequency while the double crossover type has the lowest frequency.
3. Determine the correct gene sequence. This can be done by comparing the alleles present in the
double crossovers with those present in the parental. Take note that when the parental alleles
and the double crossover are compared, only one allele will differ, particularly the one located
at the middle. Based on the given data there are three possible gene order namely: vg b pr; vg
pr b; and b vg pr. Below is the illustration on how to determine the correct gene sequence.
vg b pr v b+ pr
Compare the result of double crossing with the designated DCO in the table. Since we
did not get vg b pr+ and vg+ b+ and pr, this is not the correct gene order. Let us try this gene
sequence: vg pr b and let us make the double cross over.
vg pr b vg pr+b
_______________ vg+ pr b+
vg+ pr+ b+
Again compare the obtained double crossover with the designated DCO in the table.
Since we obtained the same alleles, the correct gene order is vg pr b.
5. From the correct gene sequence, we can determine the single crossover at region I (SCO I)
and single crossover at region (SCO II). Crossing over must have taken place where the
alleles switch from those found in one parental to those found in the other parental. A single
crossover over in region I (between vg and pr) produces vg+ pr b and vg pr+ b+ while single
crossover in region II (between pr and b) forms vg+ pr+ b and vg pr b+ (see illustrations
below).
I II
vg pr b vg+ pr b
________________ vg pr+ b+
vg+ pr+ b+
Parental SCO I
I II
Parental SCO II
6. Determine the recombination frequency or linkage value using the formula below:
= 12.27%
= 6.46%
RF DCO = 13 + 9 x 100%
4197
= 0.52%
= 0.0052_____
(0.1227) (0.0646)
= 0.0052
0.0079
= 0.66
Interference (I) = 1- CC
= 1 – 0.66
= 0.34
The recombination frequency can be used to determine the distance between genes located on
the same chromosomes and construct a genetic map. One percent recombination frequency is
equal to one map unit (mu) or centimorgan (cM). So that based on the problem the distance
between vg and pr is 12.27 mu or cM while the distance between pr and b is 6.46 mu or Cm.
vg ------------------------pr-----------------b
12.27 mu 6.46 mu
Sex Linkage
The sex chromosomes are used for sex determination. However, these chromosomes also
carry genes for other characters of the organism. Sex linked characteristics are determined by the
genes located in the sex chromosomes. Genes located on the X chromosome, determines X
linked characteristics while those located on the Y chromosome, determine Y linked
characteristics. Since the Y chromosome of most organisms contain little genetic information,
most sex linked characteristics are X linked
Thomas Hunt Morgan, American Biologist, was the first person to explain sex linked
inheritance. Morgan performed a series of genetic crosses to investigate the inheritance of the
white eyed characteristic in fruit flies. Morgan wanted to determine if white eye color is
inherited as recessive autosomal. He performed reciprocal cross. In the first experiment Morgan
crossed red eyed female and white eyed male. In the second experiment, Morgan crossed white
eyed female cross and red eyed male. Since different results were obtained in the F2 generation
of the two crosses, he concluded that eye color is inherited as X linked recessive and not
autosomal recessive.
P: X+X+ x XwY
red eyed female white eyed male
Gametes: X+ Xw, Y
F1: X+ Xw (red eyed, female)
X+Y (red eyed, male)
P2: X+Xw x X+Y
F2:
Gametes X+ Y
X+ X+X+ X+Y
Xw X+Xw XwY
P: XwXw x X+Y
white eyed female red eyed male
Gametes: Xw X+, Y
F1: X+Xw red eyed female
XwY white eyed male
P: X+Xw x XwY
Gametes Xw Y
X+ X+Xw X+Y
Xw XwXw XwY
Y linked traits are controlled by genes located in the Y chromosome. The traits are present only
in males because only males posses Y chromosomes. These occur in male descendants of an
affected male. Hypertrichosis of the ears, webbed toes and porcupine man are examples of Y
linked traits.
Problem Set Number 1
Reproductive Cycles
1. If spermatogenesis is normal, how many spermatozoa will be formed from the following?
14. If oogenesis is normal, how many ova will be formed by the following?
15. In corn the diploid chromosome number is 20. How many chromosomes are present
in each of the following?
20_____ a. microsporocyte
10_____ b. sperm nucleus
10_____ c. egg nucleus
30_____ d. endosperm
20_____ e. zygote
8. Human has a diploid chromosome number of 46. How many chromosomes are present
in each of the following
19_____ a. How many chromosomes does a cat receives for its father?
18_____ b. How many autosomes are present in cat’s ovum?
19_____ c. How many chromosomes are in cat’s sperm cell?
36_____ d. How many autosomes are in somatic cells of a female?
38____a. How many autosomes are present in the body cells of male?
38____b. How many autosomes are present in the body cells of female?
2_____c. How many sex chromosomes are present in a male?
2_____d. How many sex chromosomes are present in female?
19____e. How many autosomes are present in spermatids?
2_____f. How many sex chromosomes are present in oogonium
38____g. How many autosomes chromosomes are present in oogonium?
2_____ h. How many sex chromosomes ae present in the zygote?
38_____ i. How many autosomes are present in the zygote?
38_____ j. How many autosomes are present in oogonium?
6. In certain insects such as the grasshopper, which has an XO condition, the male has
only one sex chromosome, an X, whereas the female has two X chromosomes. Assuming
the females of such species have diploid chromosome number of 12.
10_____ a. How many autosomes will there be in the wing cells of female?
10_____ b. How many autosomes will there be in the wings of male?
11_____ c. What will be the total chromosomes number in the wing cell of a male?
6_____ d. How many chromosomes will there be in the sperm cells that bear an X
chromosome?
5_____ e. How many chromosomes will there be in non X bearing sperms
P- purple p- white
G. Ratio= 1:2:1
P PP Pp P.Ratio= 3:1
p Pp pp
b. true breeding white-flowered, yellow pea x true breeding purple-flowered, green pea
G. Ratio= 1 or 100%
pY x Py
P.Ratio= 1 or 100%
pY PpYy
2. Purple (P_) is dominant to white (pp). You have a purple-flowered pea plant. You do
not know its genotype. Diagram the test-cross you would conduct to determine the plant’s
genotype and what results you would expect if the plant was heterozygous and if the plant
was homozygous
PP x pp Pp x pp
Genotype: Pp,pp
Genotype: Pp p p
p p Phenotype: Purple
Phenotype: Purple
flower, white flower
flower
P Pp Pp p pp pp
3. You are studying five traits in Pentids, an amazonian flying beetle. You have
identified each trait as belonging to separate alleles located on separate chromosomes and
have categorized those alleles as A,B,C,D, and E, respectively. After years of controlled
breeding experiments, you have developed your Pentid lines to the point where you can
control their genotypes with certainty. You perform the following cross: P: AaBbCcDdEe
x AAbbCCDdEe. Predict the probability of recovering offspring of each of the following
genotypes from this parental cross:
a. AaBbCcDdEe = ½ x ½ x ½ x ½ x ½= 1/32
b. AAbbCCDDee= ½ x ½ x ½ x ¼ x ¼ = 1/128
c. AaBbCCDdEe= ½ x ½ x ½ x ½ x ½= 1/32
d. AaBbccDdee= ½ x ½ x 0 x ½ x ¼ = 0
5. Polydactyl (extra fingers and toes) is due to a dominant gene. A father is polydactyl,
the mother has the normal phenotype, and they have had one normal child. What is the
genotype of the father? Of the mother? What is the probability that a second child with
have the normal number of digits?
A- Polydactyl
a- Normal
Father- Aa
Mother- aa Genotype: Aa, aa
a a Phenotype: Polydactyl, Normal
G. Ratio= 1:1
A Aa Aa P.Ratio= 1:1
6. A genetic engineer was attempting to cross a tiger and a cheetah. She predicted a
phenotypic outcome of the traits she was observing to be in the following ratio: 4 stripes
only; 3 spots only; 9 both stripes and spots. When the cross was performed and she counted
the individuals she found 50 with stripes only, 41 with spots only and 85 with both.
According to the Chi-square test, did she get the predicted outcome?
Ho: There is no significant difference between the observed and expected values
Ha: There is significant difference between the observed and expected values.
a. if X2 c < X2 t accept Ho
b. if X2c > X2 tab accept Ha
Since the X2 computed value is less than the X2 tabulated value we will accept Ho which
means that the observed phenotypic ratio is consistent with the 4:3:9 ratio.
7. The allele for red feather color in pigeons, R, is dominant to the allele for brown
feathers, r. A red pigeon who had a red parent and a brown parent is mated with a brown
pigeon.
R_ x rr
RR x rr Rr x rr
F1= Rr rr
r r r r F2=Rr rr
F3=Rr rr
F4=Rr rr
R Rr Rr R Rr Rr F5=Rr rr
R Rr Rr r rr rr
8. True-breeding flies with long wings and dark bodies are mated to true-breeding flies
with short wings and tan bodies. All of the F1 progeny have long wings and tan bodies. If
these are allowed to mate and reproduce and the following results are observed: 44 tan,
long; 16 dark, long; 14 tan, short and 6 short, dark. Give the genotypes of the parents
and the progenies?
Ab AaBb
F1= AaBb
2n= 22= 4
AB, Ab, aB, ab
AB Ab aB ab
AB AABB AABb AaBB AaBb
Ab AABb AAbb AaBb Aabb
aB AaBB AaBb aaBB aaBb
ab AaBb Aabb aaBb aabb
G. Ratio: 1:2:1:2:4:2:1:2:1
P. Ratio: 9:3:3:1
To determine which dog to breed, test cross should be used in which if you breed
heterozygous dominant (Bb) with another heterozygous dominant (Bb), you would obtain a 25%
chance of having a pure breed strain of Barker
B- Barker b- silent
Genotype: BB, Bb, bb
B b Phenotype: Barker, silent
G. Ratio= 1:2:1
B BB Bb P.Ratio= 3:1
And if you breed heterozygous dominant (Bb) with another homozygous dominant (BB) you
would get 50% probability of getting pure breed strain of Barker
B-Barker b- silent
Genotype: BB, Bb
B B Phenotype: Barker, Silent
G. Ratio= 1:1
B BB BB P.Ratio= 1:1
and to get a 100% probability of pure breeding strain of barker, homozygous dominant (BB)
should cross with another homozygous dominant (BB)
B-Barker b- silent
Genotype: BB
B B Phenotype: Barker
10. In a family of five children, what is the probability of obtaining the following:
a. all boys=
b. all girls =
c. four boys and one girl=
d. three boys and two girls=
e. next child is a boy=
(a) Development of a male gametophyte
(in pollen grain)
Microsporangium
(pollen sac)
Microsporocyte (2n)
MEIOSIS
4 microspores (n)
Each of 4
microspores (n)
MITOSIS
Nucleus of
tube cell (n)
20 µm
Ragweed
pollen
75 µm grain
2. Megasporogenesis is the formation of female gametophyte or embryo sac inside the ovule.
Megasporocytes (megaspore mother cell) are located inside the ovule. The megasporocyte
divides by meiosis and gives rise to four haploid megaspores, however, in most species only one
survives while the three disintegrate. The nucleus of the surviving megaspore divides mitotically
three times forming one large cell with 8 haploid nuclei namely: 3 antipodal nuclei, 2 polar
nuclei, 1 egg nucleus and 2 synergids.
Megasporangium (2n)
Micropyle
Surviving
megaspore (n)
MITOSIS
Female
Embryo
sac
100 µm