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Lecture One
Genetics: The Science of Heredity and Variation

Learning Objectives

Upon completion of this module you are expected to:

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.

1. Morphological variation refers to the difference in appearance, form, and structure of

the body. In animals, it can be seen as difference in the shape of the face, length of the
fingers, body size, size of the ears etc. In plants, it could be observed as difference in size
and color of the leaves, length of the stem, color of the flower and shape and color of the
seeds.

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.

3. Behavioral variation is the difference in the pattern of reactions of an organism to its

environment (Umaly and Roderos, 1986). Individual animals behave differently from
each other for myriad interrelated intrinsic and extrinsic reasons (Shelton and Martins,
2017). Ability to learn as influenced by individual personality type, feeding, mating and
parental care are examples of behavioral variation.

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)

Criteria Male Female

1. Over-all size smaller larger
2. Size of the abdomen shorter longer
3. Shape of tip of abdomen round curved
4. Sex combs first tarsal segment of the sex combs are absent
first thoracic legs bears sex
combs
5. Shape of tip of abdomen short rounded abdomen larger pointed abdomen
6. External reproductive organ circles of darkly tipof the female
pigmented parts abdomen is lightly
colored and pointed
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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.

1.1 Within individual

1.1.1 mutations – changes in genetic material
1.1.2 meiosis – random assortment of chromosomes and crossing over
1.1.3 gamete combination – random fusion of sperm and egg cell during fertilization

1.2 Within population

1.2.1 gene flow – immigration and emigration
1.2.2 random genetic drift – bottle neck and founder effect
1.2.3 natural selection – some variations provides individual with increase chance of
survival.

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.

3. Interaction between genotype and environment

According to Ward and Lindhiemer (2009) genotype and environment interactions are
situation in which environmental factors affect different individuals differently, depending upon
genotype, and in which genetic factors have differential effect, depending upon attributes of the
environment. is the combination of genetic and environment factors.

Methods Used in Genetic Study

1. Planned Breeding Experiment

This method is used to study the mode of inheritance of a certain characteristic trait.
Individuals exhibiting contrasting characters are crossed and the offspring are observed from
generation to generation.

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.

Figure 1.3. Human Karyotype

(Credit: National Cancer Institute, US Department of Health and Human Services)

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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Brief History of Genetics

Year Scientists Contribution

1839 Matthias Scleiden and Theodore Proposed the Cell Theory
Schwann
1859 Charles Darwin Published “On the Origin of the Species
1866 Gregor Mendel Published “ On the Pattern of Inheritance in Pea
Plant. He is acknowledged as the father of genetics
1869 Friedrich Miesher Discovered DNA
1897 Walter Flemming Published the description of mitosis
1900 Carl Correns (Germany, Erick Rediscovered Mendel’s work
Von Tschermak (Austria) and
Hugo de Vries (Netherlands)
1902 Walter Sutton Proposed that the genes ae located on the
chromosomes
1902 Walter Sutton and Theodor Formulated the Chromosome Theory
Boveri
1909 W. Johannsen First used the term gene.
1910 Thomas Morgan Discovered the first mutation in fruit flies
1944 Oswald Avery, Colin McLeod Identified DNA as the hereditary material
and Mclyn MacCarty
1953 James Watson and Francis Crick, Proposed the molecular structure of DNA
1958 Matthew Messelson and Franklin Demonstrated the semi conservative mode of
Stahl replication of DNA
1961 Francois Jacob and Jacques Provided genetic evidence for a method of gene
Monod regulation in bacteria now called operon
1986 Kary Mullis Developed polymerase chain reaction (PCR) which
allows production of million copies of DNA is short
period of time.

Application of Genetics

Ramirez et al. (2019) listed four applications of Genetics namely: plant and animal
improvement, medicine, legal application and genetic counselling.

1. Plant and Animal Improvement

The principles of Genetics had been used to improve plants and animals through selective
breeding. Several varieties of plants and breeds of domestic animals with genetically superior
characteristics have been developed. At present we have high yielding, insect and pest resistant
and drought tolerant varieties of rice and chicken with shorter life cycle.

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

1. Chanco, CR. 1996. Handbook in Genetics. 142 pp.

2. Pierce, BA. 2012. Genetics – A Conceptual Approach. WH Freeman Co. NY. pp
2. Ramirez DR, MS Mendioro and RP Laude. 2019. Lectures in Genetics 11th ed. 7 Lakes
Printing Press, San Pablo City. 293 pp
3. Umaly, RC and RR Roderos. 1986. Lecture Notes on Modern Genetics. Vibal Publishing
House. Inc. Quezon City. 270 pp
4. Ward, K and MD Lindheimer. 2009. Genetic factors in the etiology of preeclampsia/eclampsia.
Chesley’s Hypertensive Disorders in Pregnancy. Academic Press.
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Module Two
Cellular Basis of Heredity

Learning Objectives:

Upon completion of this module, you are expected to be able to:

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.

Parts of Eukaryotic Cell

6. Plasma membrane is semi permeable membrane consisting of phospholipid bilayer which

regulates the passage of molecules in the cell.

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.

2.3 Nucleolus is spherical bodies that makes ribosomes.

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.

3.1. Mitochondrion is a sausage or rod-shaped organelle enclosed by a double membrane, the

inner and outer membrane. The inner membrane forms an internal folding known as cristae. This
organelle provides energy through oxidative metabolism or aerobic respiration. Hence, it is often
referred to as the powerhouse of the cell.

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. 7. Chloroplast is enclosed by a two layered membrane that contains chlorophyll. This is

the site of photosynthesis.

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.

Table 2. Chromosome number of selected organisms

Organism Scientific Name Chromosome number (2n)
Man Homo sapiens 46
Dog Canis familiaris 48
Housefly Musca domestica 12
Mouse Mus musculus 40
 fruit fly Drosophila melanogaster 8
Rice Oryza sativa 24
Corn Zea mays 20
Cat Felis catus 38

Parts of Chromosome

Mitotic chromosomes can be observed with the following structures:

2. Centromere or primary constriction is a permanent well-defined region the 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.

6. Telomere is a region of repetitive nucleotide sequences at each end of a chromatid. It protects

the end of the chromosome from deterioration or from fusion with neighboring chromosomes.

Figure 2.3. Structure of the chromosome

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.

Figure 2.4 Types of chromosomes based on the location of the centromere

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

Mitosis is a process of cell reproduction in which a cell produces two genetically

identical cells. Mitosis can be divided into interphase and M phase.
3. Interphase. The cell is metabolically active and preparing for the next division. Chromosomes
are not clearly seen in the nucleus.
G1 phase (first gap period). The nucleus and cytoplasm are enlarging toward mature size
due to imbibition of water and nutrients. Cytoplasmic organelles such as ER, Golgi apparatus,
mitochondrion, etc. are formed.
S phase (synthesis). Synthesis of DNA and histone and duplication of each chromosomes.
By the end of this phase the amount of DNA doubles.
G2 phase (second gap). Additional biochemical events necessary for cell division occurs.
Synthesis of RNA and protein also occurs.
4. M- phase is the period of active cell division which includes mitosis (nuclear division) and
cytokinesis (cytoplasmic division).
a. Prophase. The chromosomes condense and become visible, centrosomes move apart and
microtubule form fibers from the centrosome. The nucleoli disappear and nuclear envelope starts
to disintegrate allowing for the nucleoplasm and cytoplasm to join.
b. Metaphase. The chromosomes align themselves at the equatorial plane (middle part of the
cell) and the centrioles can be seen at the opposite sides of the cell.
c. Anaphase. After breakdown of cohesin protein in the centromere, the centromere divides and
the sister chromatids separate and move towards the opposite side of the cell.
d. Telophase. The chromosomes are located on the opposite sides of the cell. The nuclear
envelope is formed around each set of chromosomes. Nucleoli reappear and spindle microtubules
disintegrate. Cytokinesis immediately follows.

Prophase Metaphase
 Anaphase Telophase

Figure 2.5. Stages of Mitosis (Photo Credit: Lewis. 2009. Human Genetics)

B. Cytokinesis

Cytokinesis is the division or partitioning of the cytoplasm. In animal cell, cleavage

furrow forms and partitioning of the cytoplasm starts from the side going to the center. On the
other hand, in plant, cell plate is formed and division of the cytoplasm starts from the center
going to the sides or periphery of the cell.

Figure 2.6 Cytokinesis in Animal and Plant Cells

Photo Credit: Microbe Notes: Online Microbiology and Biology Notes
https://microbenotes.com/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.

Life Cycle of Flowering Plants

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.

1. Microsporogenesis is the development of male gametophyte (pollen grain). The formation of

pollen grains occurs in microsporangia (pollen sacs) of anthers at the tips of the stamens. The
microsporangia contain diploid microsporocytes (microspore mother cells). Each microsporocyte
undergoes meiotic division producing four haploid microspores. The haploid microspores divide
by mitosis to form a generative cell and a tube cell. Tube cell will give rise to a pollen tube that
burrows through the style after pollination. On the other hand, the generative cell divides
mitotically to form two sperm nuclei as the pollen tube grows.

Module Three
 Patterns of Inheritance
Learning Objectives

Upon completion of this module, you are expected to:

1. define important genetic terminologies.

2. explain the Mendel’s law of inheritance.
3. apply Mendel’s law of segregation and law of independent assortment in solving genetic problems.
4. discuss the different patterns of inheritance.
5. solve genetic problems involving allelic interaction and gene interaction.
6. use the laws of probability in solving Genetics problems.

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.

1. Flower color (purple or white)

2. Flower position (axial or terminal)
3. Seed color (yellow or green)
4. Seed shape (round or wrinkled)
5. Pod shape (inflated or constricted 6. Pod color (yellow or green)
7. Stem length (tall or dwarf.

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.

Table 3.1 Outcomes of Mendel’s Crosses

Character Contrasting Traits F1 Results F2 Results F2 Ratio

Seed shape Round/wrinkled All round 5474 round 2.96:1
1850 wrinkled
Seed color Yellow/green All yellow 6022 yellow 3.01:1
2001 green
Pod shape Inflated/constricted All inflated 882 inflated 2.95:1
299 constricted
Pod color Green/yellow All green 428 green 2.82: 1
152 yellow
Flower color Violet/white All violet 705 violet 3.15:1
224 white
Flower position Axial/terminal All axial 651 axial 3.14:1
207 terminal
Stem length Tall/dwarf All tall 787 tall 277 2.84:1
dwarf

Based on the results of his hybridization works, Mendel formulated the following principles of inheritance:

1. Principle of unit factor

Genetic characters are controlled by unit factors that exist in pairs in individual organisms.

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.

4. Principle of Independent Assortment

During gamete formation, segregating pairs of unit factors assort independently of each other.

Modern Genetic Terminologies

In order to understand the different Mendel’s principles of genetics, you must be familiar with the following terms.

1. Gene – a unit of heredity; a section of DNA sequence encoding a single protein.

2. Genome – the entire set of genes in an organism.

3. Allele - one of the two alternative forms of a single gene.

4. Homozygous – an individual with two identical alleles for a given trait. This is represented as homozygous
dominant (AA) or homozygous recessive (aa)

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.

9. Recessive allele – allele that is masked or not expressed in heterozygous condition.

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.

Figure 3.1 Punnett square analysis of a monohybrid cross

(Source: https://bio.libretexts.org.)

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.

Figure 3.3. Punnet square method of solving a dihybrid

cross (Source: https://bio.libretexts.org
 Another way of obtaining the genotypes and phenotypes of the progenies of a given cross involving
several gene pairs is by using forked line or branching method. In this method, each gene pair is taken
independently. Figure 3.4 shows how the phenotypic ratio is obtain in a dihybrid cross. First, get the phenotypic
ratio when you cross the first gene pair (Rr x Rr)and then get the phenotypic ratio when you cross the second gene
pair (Yy x Yy). The figure below shows how to determine the phenotypic ratio in a dihybrid cross.

1. Determination of Phenotypic Ratio

P: round, yellow (RrYy) x round, yellow (RrYy)

3 round = 9 yellow, round 3 yellow

1 wrinkled = 3 yellow, wrinkled

3 round = 3 green, round

1 green
1 wrinkled = 1 green, wrinkle

PR = 9:3:3:1

Figure 3.4. Forked Line Method of Determining Phenotypic Ratio

2. Determination of Genotypic Ratio

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

Figure 3.5 Forked Line Method of Determining Genotypic Ratio

Probability and Genetic Ratios

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:

Probability = number of times an event occurs

total number of events

For example, in tossing a coin what is the probability of getting a head?

P (head) = 1 head
1 head + 1tail

= ½ or 0.5 or 50%

Another example, in a deck of card what is the probability of getting a king

P (king) = 4/52
= 1/13 or 0.076 or 7.69%

In an individual with a genotype AaBb, what is the probability of getting an AB gamete?

P (AB gamete) = ¼ or 0.25 or 25%

Rules of Probability

1. Product Rule of Probability

The probability that two or more independent events will occur simultaneously is the product of their
individual probabilities. Independent events are those in which the occurrence of one does not affect the probability
of another.

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

2. Sum Rule of Probability

The probability that one of two or more mutually exclusive events will occur is the sum of their respective
probabilities. Mutually exclusive events are events that can never take place at the same time.
Example: When you flip a coin, what is the probability of getting either a head or a tail?

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?

4. Chi square test

Chi square (X2) test is a statistical tool used to determine the goodness of fit. Goodness of fit refers to how
close the observed data are to those predicted from a hypothesis. The formula is given below.
Example:

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

Phenotypic Classes Observed Number Expected Number

Round, yellow 198 9/16 x 368 = 207
Round , green 75 3/16 x 368 = 69
Wrinkled, yellow 67 3/16 x 368 = 69
Wrinkled, green 28 1/16 x 368 = 23
Total 368 368

3. Apply the chi square formula.

Phenotypic Observed Expected Number O-E (O - E)2 = D2/E

Classes Number (O) (E) D2
Round, yellow 198 9/16 x 368 = 207 -9 81 0.39
Round , green 75 3/16 x 368 = 69 6 36 0.52
Wrinkled, yellow 67 3/16 x 368 = 69 -2 4 0.06
Wrinkled, green 28 1/16 x 368 = 23 5 25 1.09
Total 368 368
= 2.06

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

a. if X2c < X2 tab 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 9:3:3:1 ratio.
 Module 3.2 Extension of Mendelian Principles and Gene Interaction

Extension of Mendelian Principles

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

F1: all CRCW

roan

F2: 1 CRCR, 2 CRCW, 1 CWCW

red roan 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

Genotype Blood Type Antibody

IAIA, IAi A Anti - B
IBIB, IBi B Anti - A
IAIB AB none
Ii O Anti - A and Anti - B

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.

1. Dominant lethal genes are expressed in homozygous or heterozygous condition.

Huntington’s disease, a neurological disease, which reduces the life expectancy is an example
dominant lethal. This can cause death when a heterozygous individual reach 40 years old.
Another example is “creeper” allele in chicken. Creepers have shortened legs and must
creep along. Such birds also have shortened wings. Creeper is dominant so that it is lethal when
present in homozygous dominant condition. The cross below shows how lethal allele may
deviate from Mendelian ratios.

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

P2: Y+yC+c x. Y+yC+c

F2: 9 Y+_C+_ red

+
3 Y _cc peach
+
3 yyC _ orange
1 yycc cream

Phenotypic ratio = 9:3:3:1

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

3. Dominant Epistasis Case I

Complete dominance in both gene pairs, but one gene when present in dominant
condition, masks the effect of the other gene. Dominant epistasis can be observed in fruit color
of summer squash.

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

4. Dominant Epistasis Case 2

Complete dominance in both gene pairs, but one when dominant is epistatic to the second, the
second gene when homozygous recessive is epistatic to the first. This type of interaction is
exemplified by the feather color in fowl.

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

5. Complementary Genes (Duplicate Recessive Epistasis)

Complete dominance in both gene pairs, but either recessive homozygote is epistatic to
the effects of the other gene. This can be observed in pea flower color.

P: PPCC x. ppcc
purple white

F1: PpCc
Purple

F2: 9 P_C_ purple

3 P_cc white
3 ppC_ white
1 ppcc white

PR: 9:7

6. Duplicate Genes (Duplicate Dominant Epistasis)

Complete dominance in both gene pairs but either genes, when dominant is epistatic to
the other. Example of this gene interaction is the seed capsule in shepherd’s purse.
P: AABB x aabb
triangular ovoid

F1 AaBb
triangular

P2: 9 A_B_ traingular

3 A_bb triangular
3 aaB_ triangular
1 aabb ovoid

PR 15:1

Environmental Influence on Gene Expression

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 3.5 Phenotype of rabbit reared at 20oC and above 30oC

(Source: Pierce, 2012)
2. Light
Light can also influence gene expression. For example, in corn plant carrying the
homozygous for pigmentation when exposed to sunlight developed bright color but when the
light was retarded by covering the area of the plant prone to pigmentation, the bright red
phenotype was not observed. Morgan (1917) reported that caterpillar of Vanessa urtica and
Vanessa io exposed to red light resulted in colored wings while those exposed to green
produced to dusky wings. Exposure to blue light and darkness resulted to paler wings.

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.

Genotype Female Phenotype Male Phenotype

BB Bald Bald
Bb Non bald Bald
Bb Non bald Non bald

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.

Genotype Phenotype in Male Phenotype in Female

Hh hen feathered Cock feathered
Hh hen feathered Hen feathered
HH hen feathered Hen feathered

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

F2: 9 B_D_ black

3 B_dd black
 3 bbD_ brown
1 bbdd. dilute brown

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.

5. Phenocopy is defined as an environmentally caused trait that appear inherited or genetic.

The thalidomide induced limb deformity that mimics phocomelia is an example of phenocopy.
 Linkage and Recombination

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.

Morgan Provided Evidence for the Linkage of Several X-linked Genes

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.

P: pr+pr+ vg+vg+ x prpr vgvg

F1: pr+pr vg+vg (red eyes, normal wings)

P: pr+pr vg+vg x prpr vgvg (test cross)

F1

Female Gamete Male gamete (pr vg) Phenotype Number

pr +vg + pr+pr vg+vg wild type (red eyes, normal wings) 1,339
pr +vg pr+pr vgvg normal eyes, vestigial wings 151
pr vg+ prpr vg+vg nurple eyes, normal wing 154
pr vg prpr vgvg purple eyes, vestigial wing 1,195
 If the two genes are assorting independently, Morgan should have obtained a ratio of 1:1:1:1.
However, he obtained many parental phenotypes than those of the non-parental phenotypes.
Which indicates that the genes are not assorting independently.

Coupling and repulsion gametes

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

Weaver (1995) defined recombination rate is measured as the proportion of recombinant

offspring observed in a test cross or in other crosses.

Three Point Test Cross

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

a. Determine the correct gene sequence.

b. Is there interference.
c. What is distance between genes

Steps in Solving Problems involving three point test cross:

1. Write the phenotypes, genotypes and progeny produced in a three point test cross.

Phenotype Genotype Number

vestigial wings, black body, purple eyes vg b pr 1779
normal wings, normal body, normal eyes vg+ b+ pr+ 1654
normal wings, black body, purple eyes vg+ b pr 252
vestigial wings, normal body, normal eyes vg b+ pr+ 241
normal wings, black body, normal eyes vg+ b pr+ 131
vestigial wings, normal body, purple eyes vg b+ pr 118
vestigial wings, black body, normal eyes vg b pr+ 13
normal eyes, normal body, purple eyes vg+ b+ pr 9
Total 4197

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.

Phenotype Genotype Number Cross over

type
vestigial wings, black body, purple eyes vg b pr 1779 Parental
normal wings, normal body, normal eyes vg+ b+ pr+ 1654 Parental
normal wings, black body, purple eyes vg+ b pr 252
vestigial wings, normal body, normal eyes vg b+ pr+ 241
normal wings, black body, normal eyes vg+ b pr+ 131
vestigial wings, normal body, purple eyes vg b+ pr 118
vestigial wings, black body, normal eyes vg b pr+ 13 DCO
normal eyes, normal body, purple eyes vg+ b+ pr 9 DCO
Total 4197

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

_______________ vg+ b pr+

vg+ 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.

4. Rewrite the genotype using the correct gene sequence

Phenotypes Genotype Number Cross over

type
vestigial wings, black body, purple eyes vg pr b 1779 Parental
normal wings, normal body, normal eyes vg+ pr+b+ 1654 Parental
normal wings, black body, purple eyes vg+ pr b 252
vestigial wings, normal body, normal eyes vg pr+ b+ 241
normal wings, black body, normal eyes vg+ pr+ b 131
vestigial wings, normal body, purple eyes vg pr b+ 118
vestigial wings, black body, normal eyes vg pr+ b 13 DCO
normal eyes, normal body, purple eyes vg+ pr b+ 9 DCO
Total 4197

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

vg pr ___b vg+ pr+ b

_________________ vg pr b+ vg+
pr+ b+

Parental SCO II

Phenotypes Genotype Number Cross over

type
vestigial wings, black body, purple eyes vg pr b 1779 Parental
normal wings, normal body, normal eyes vg+ pr+b+ 1654 Parental
normal wings, black body, purple eyes vg+ pr b 252 SCOI
vestigial wings, normal body, normal eyes vg pr+ b+ 241 SCOI
normal wings, black body, normal eyes vg+ pr+ b 131 SCOII
vestigial wings, normal body, purple eyes vg pr b+ 118 SCOII
vestigial wings, black body, normal eyes vg pr+ b 13 DCO
normal eyes, normal body, purple eyes vg+ pr b+ 9 DCO
Total 4197

6. Determine the recombination frequency or linkage value using the formula below:

RF = total number of crossover types x 100%

total number of population

RF region I = 252 + 241 + 13 + 9 x 100

(vg and pr) 4197

= 12.27%

RF region II = 131 + 118 + 13+ 9 x 100

(pr and b) 4197

= 6.46%

RF DCO = 13 + 9 x 100%
4197

= 0.52%

7. Determine the coefficient of coincidence and interference. Coefficient of coincidence (CC) is

a measure of interference in the formation of chromosomal crossover during meiosis.
 CC = actual DCO
expected DCO

= 0.0052_____
(0.1227) (0.0646)

= 0.0052
0.0079

= 0.66

Interference (I) = 1- CC
= 1 – 0.66
= 0.34

8. Draw the linkage map

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

Morgan Experiment on Fruit fly

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.

Cross 1: Red Eyed Female Crossed with White Eyed Male

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

½ red eyed female

¼ red eyed male
¼ white eyed male

Cross 2 – White Eyed Female Crossed with Red Eyed Male

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

½ red eyed female

½ white eyed female
½ red eyed male
½ white eyed male
Y linked Trait

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?

400____ a. 100 spermatogonia

25_____ b. 25 spermatids
20_____ c. 10 secondary spermatocytes
160____ d. 40 primary spermatocytes

14. If oogenesis is normal, how many ova will be formed by the following?

1000___a. 1000 oogonia

0_____ b. 20 first polar body
0_____ c. 50 secondary polar bodies
500___ d. 500 primary oocytes
25____ e. 25 secondary oocytes

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

10_____ f. antipodal cell

10_____ g. synergid
20_____ h. megasporocyte
10_____ i. megaspore
20_____ j. leaf cell

8. Human has a diploid chromosome number of 46. How many chromosomes are present
in each of the following

23_____ a. spermatids 23_____ i. secondary

23_____ b. ovum spermatocyte
46_____ c. primary oocyte 46 _____ j. brain cell
23_____ d. secondary polar body
0_____ e. red blood cell
46_____ f. zygote
46_____ g. oogonium
23_____ h. ootid
5. There are 38 chromosomes in somatic cells of cat (Felis domestica).

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?

6. Before mitosis begins, human skin cells contain 46 chromosomes.

92_____ a. How many chromatids are there in metaphase?

46_____ b. How many centromeres are present in metaphase?
46_____ c. How many chromosomes are present in the two daughter cells?

7. In mouse (Mus musculus) the normal diploid chromosome number is 40.

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

9. How many sperm nuclei are produced by:

24____ a. a dozen microspore mother cells

2_____ b. a generative nucleus

10. If a man has a genotype Aa,

1/2____a. what proportion of his primary spermatocytes will contain gene a?
1/2____ b. what proportion of his secondary spermatocytes will contain gene A?
1/2____ c. what proportion of his spermatids will contain gene A?
1/2____ d. what proportion of his sperm will contain gene a?
 Problem Set 2
1. In pea plants, yellow peas are dominant to green peas and purple flowers are dominant
to white flowers. For each of the following parental crosses, give the predicted
phenotypic and genotypic ratios of the F1 generation:

a. heterozygous purple-flowered x heterozygous purple-flowered

P- purple p- white

Pp x Pp Genotype: PP, Pp, pp

P p Phenotype: Purple, 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

Y- yellow y-green P- purple p- white

ppYY x PPyy Genotype: All PpYy

2n= 20= 1 Py
Phenotype: All Purple Yellow

G. Ratio= 1 or 100%
pY x Py
P.Ratio= 1 or 100%

pY PpYy

c. heterozygous purple-flowered, yellow pea) x heterozygous purple-flowered, yellow

pea
PpYy x PpYy
2n= 22= 4
PY, Py, pY,py
PY Py pY py
PY PPYY PPYy PpYY PpYy
Py PPYy PPyy PpYy Ppyy
pY PpYY PpYy ppYY ppYy
py PpYy Ppyy ppYy ppyy
G.Ratio= 1:2:1:2:4:2:1:2:1
P.Ratio= 9:3:3:1

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 G. ratio: 1:1 or 50%

G. ratio: 100%
P. ratio: 1:1 or 50%
P. ratio: 100%

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

4. Determine the number and kinds of gametes produced by the following

individuals:
a. AaBBCC = 2n= 21= 2: ABC, aBC
b. aabbCCDdEe = 2n= 22= 4: abCDE, abCDe, abCdE, abCde
c. AABBCCDdEEFf =2n= 22= 4: ABCDEF, ABCDEf, ABCdEF, ABCdEf
d. aaBbCcDD = 2n= 22= 4: aBCD, abCD, aBcD, abcD

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

Probabilty of the 2nd child having normal

number of digits: ½ or 50%
a aa aa

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.

Phenotype Observed Expected O-E (O-E)2 (O-E)2/E Σ(O-E)2/E

Stripes 50 44 6 36 0.818 4.737
With Spots 41 33 8 64 1.939
Both Stripes and
85 99 -14 196 1.980
Spots
176 176 X2= 4.737

df= n-1 α= 0.05

df= 3-1 X2t = 5.99
df= 2

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- red feather r- brown feather

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

a. Give the genotypes of the two pigeons being mated.

Rr and rr
b. Identify the gametes produced by each of the pigeons being mated.
½ Rr and ½ rr
c. What proportion of the F1 progeny would be expected to have brown feathers?
½ or 50%
d. If these pigeons produce five progeny, what is the probability that all five will be red?
½ or 50%

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?

A- Long wing a- short wing B-tan body b- dark body

P=AAbb x aaBB
2n= 20= 1 aB
Ab, aB

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

Genotype: AABB, AABb,AAbb, AaBB, AABb, Aabb, aaBB, aaBb, aabb

Phenotype: long wing tan body, long wing dark body, short wing tan body, short wing dark
body

G. Ratio: 1:2:1:2:4:2:1:2:1
P. Ratio: 9:3:3:1

Genotype Observed Expected

Tan, long 44 45
Dark, Long 16 15
Tan, Short 14 15
Short, dark 6 5
80 80

9. In some breeds of dog, dominant B controls the characteristic of barking while

trailing. If a breeder wants to produce a pure breeding of strain of barker but knows
the allele for silent trailing b is present in his kennels, how would he determine which
dog to breed?

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

¼ or 25% probability of getting a pure

breed barker
b Bb bb

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

½ or 50% probability of getting a pure

breed barker
b Bb bb

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

G. Ratio= All alike

B BB BB P.Ratio= All alike

100% probability of getting a pure breed

barker
B BB BB

In conclusion, to get a probability of having pure breed barker having Homozygous

dominant gene (BB), the dog should either have Heterozygous dominant gene (Bb) or
Homozygous dominant gene (BB) and should be breed to another dog having also either
Heterozygous dominant gene (Bb) or Homozygous dominant gene (BB).

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

Generative cell (n) Male

gametophyte

Nucleus of
tube cell (n)
20 µm

Ragweed
pollen
75 µm grain

Figure 2.8. Development of Male Gametophyte (Photo Credit: Campbell and

Reece, 2002)

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.

(b) Development of a female

gametophyte (embryo sac)

Megasporangium (2n)

Ovule Megasporocyte (2n)

MEIOSIS Integuments (2n)

Micropyle

Surviving
megaspore (n)

MITOSIS
Female

Ovule 3 antipodal cells (n)

(embryo sac)
gametophyte

2 polar nuclei (n)

1 egg (n)
Integuments (2n)
2 synergids (n)

Embryo
sac
100 µm

Figure 2.9. Development of Male Gametophyte (Photo Credit: Campbell and

Reece.,2002)
 During pollination, the generative cells of the pollen grain divide mitotically to form two
sperm (male mature gametophyte).The pollen tube enters the embryo sac through the micropyle
and discharges its two sperm nuclei. One sperm nucleus unites with the egg nucleus to form the
zygote (3n) which will become the embryo. The second sperm nucleus fuses with the polar
nuclei to form the endosperm (3n)

Animal Life Cycle

Gametogenesis is the process involved in the formation of matured reproductive cells
called gametes. Spermatogenesis is the formation of male gametes (spermatozoa) while
oogenesis is the production of female gametes (ova). Spermatogenesis (Figure 2.9) occurs in the
seminiferous tubules of the testis. The primordial germ cells differentiate into spermatogonia.
The diploid (2n) spermatogonium grows and develops to primary spermatocytes. This primary
spermatocyte undergoes the first meiotic division to produce two haploid (n) secondary
spermatocytes. Each secondary spermatocyte undergoes the second meiotic division to form two
haploid (n) spermatids. Each spermatid differentiates into functional spermatozoon (n).
Oogenesis takes place in the ovary. Similar to spermatogonia, the oogonia are derived from
the primordial germ cell. The diploid (2n) oogonia develop into primary oocytes (2n). These
primary oocytes enter the first meiotic division. Unlike spermatogenesis, each primary oocytes
divide unequally and give rise to a larger secondary oocyte (n) and smaller first polar body (n)
which later disintegrate. The secondary oocyte completes the second meiotic division producing
an ootid and secondary polar body. The secondary polar body also disintegrate. Finally, the ootid
differentiate into an ovum. Only one functional ovum is formed in this process (Figure 12).
During fertilization the ovum can be fertilized by either spermatozoon carrying X chromosome
to produce a female individual or Y chromosome to produce a male individual.

Figure 2.9 Gametogenesis (Photo Credit: http://www.bio.miami.edu/dana/104/104F024.html)

References

1. Chanco CR. 1996. Handbook in Genetics. 142 pp.

2. Gardner, EJ, MJ Simmons and DP Snustad. 1991. Principles of genetics. John Wiley and Sons
Inc. Canada. 119 pp.
3. Pierce, BA. 2012. Genetics – A Conceptual Approach. WH Freeman Co. NY. pp
2. Ramirez DR, MS Mendioro and RP Laude. 2019. Lectures in Genetics 11th ed. 7 Lakes
Printing Press, San Pablo City. 293 pp
4. Umaly, RC and RR Roderos. 1986. Lecture Notes on Modern Genetics. Vibal
Publishing House. Inc. Quezon City. 270 pp