LECTURE ONE GENETICS: THE SCIENCE OF HEREDITY AND VARIATION

A. Definition
GENETICS is a branch of biology that deals with the principles of heredity and
variation in all living things. It is the core biological science that seeks to understand the
molecular and physical bases of biological diversity, the mechanisms resulting from diversities
and the principles that govern their heredity from one generation to another. Also, deals with
the fundamental properties and problems of life and living, thus impinging on all aspects of
biology: biochemistry, physiology, development, morphology, anatomy, evolution and
ecology. Genetics was derived from the Greek word “gen” meaning to become, or to grow
into something. The term was coined by William Bateson in 1906.
B. Beginnings of Genetics
The science of genetics began with the works of an Austrian monk, Gregor Mendel
(1822-1884), also known as the “Father of Genetics”. In 1866, he discovered that the
characteristics were determined by elementary “factors” (now called genes) that are
transmitted between generations in uniform predictable fashion.
The two important genes attributes of the gene are:
1. The gene from generations to generation in such fashion that each progeny has a
physical copy of this material.
2. The gene provides information regarding the structure, function and other
biological properties of characteristics or trait it controls.
Before Mendel’s time, heredity was though to a “blending” process that offsprings were
essentially mixture of characteristics obtained from both parents. One of the theories prevailed
during the 19th century through Aristotle (384-322 B.C.). Theory of Pangenesis- on this theory
proposed that semen was formed everywhere in a man’s body and such semen reflected the
characteristics of the body part form where it formed. The semen traveled through the blood
vessels into the male reproductive organs. Theory of Inheritance of Acquired
Characteristics- proposed by Jean Baptist de Lamarck (1744-1829) based on the Pangenesis
Theory. Inheritance of acquired characteristics was in turn proposed to be the fundamental
mechanism of evolutionary change. Ex. Body modification acquired by use of disuse could be
transmitted to the offspring’s because the semen formed reflected such modifications. Also,
accepted by many biologists in the 19th century, including Charles Darwin (1809-1882).
August Weismann (1834-1914), who first challenged the Pangenesis Theory.
Weismann’s experiments on the inheritance of mice tail showing that cutting of tail generation
after generation produced offspring with normal tail length. He concluded that inheritance of tail
length did not depend on the particles produced in the tails of the parent mice; but rather on the
germplasm cell which are not affected when the tails were cut. Weismann Germplasm Theory
proposed that germplasm or sex cells perpetuated themselves in reproduction generation after
generation. On the other hand, somatoplasm or cells of all other parts of the body were
produced by the germplasm only as a means to protect and reproduce itself.

This may be attributed mainly to his brilliant insights and methodologies:

1. The choice of garden peas (Pisum sativum L.) as the experimental material was
advantage. Peas are self-pollinated, so the starting materials were relatively
homozygous. Furthermore, peas produced large numbers of seeds so that
characteristics ratio could be recognized easily.
2. While, scientist observed whole plants or more complex traits, Mendel
concentrated on a single trait at a time. For this purpose, he selected plant traits
that had clear-cut differences or the alternative types contrasted sharply, e.g.,
round vs wrinkled seeds.
 3. He made sure that the strains or varieties used in the hybridization work there true-
breeding by growing them for two years. He then selected as parent materials only
those produced progenies that resembled them.
4. Mendel introduced the quantitative approach in his experiments; he classified
hybrid progenies and determined their respective frequencies.
5. Mendel formulated theories that explained his experimental results.
6. Mendel formulated appropriate experimental tests to validate his theories.
Mendel’s important contribution to the science of genetics was the demonstration
that the appearance of different characters in heredity followed specific laws that could be
determined by counting the diverse kinds of offsprings produced from any particular set of
crosses. Mendel showed that the hybrid between two parental types garden peas differing
in a single characteristic would produce two types of gametes in equal members. Each
gamete was an unchanged descendant of one of the original parental gametes. Thus,
showed that there was no blending or dilution of inheritance, and inherited characteristics
were determined by discrete units or factors which remained unchanged in the presence
of other factors in the hybrids.
In 1903, Walter S. Sutton in the USA and Theodor Boveri in Germany independently
suggested the association of the Mendelian factors with chromosomes by pointing to the
resemblance in the behavior between two: the segregation of pairs of factors that Mendel
postulated during the gamete formation is parallel by the separation of homologous
chromosomes during meiosis.
Chromosome Theory of Inheritance was confirmed by the discovery of the sex
chromosomes and by the demonstration of the association of the between specific genes
and specific chromosomes by Thomas Hunt Morgan in 1910 and Calvin B. Bridges in
1916. In 1944, roles of gene become clear when Oswald Avery, Collin M. Macleod and
Maclyn McCarthy identified the deoxyribonucleic acid (DNA) as the heredity material.
With the discovery of the molecular structure of DNA by James D. Watson and Francis
H.C. Cricks in 1953, and the identification of DNA’s chemical properties, the principles of
heredity were place in firm foundation.
C. The Scopes of Genetics

1. From the standpoint of the individual, the development and maintenance of its own
unique, inherent pattern in dynamic interplay with the environment are the central
problems of life.
2. For the species, the ability to transfer these systems to the other generations is the
primary requirement for continued existence.
3. For living forms as a whole, the orderly variety of patterns and their changes with time
on a geological scale constitute they accomplishment of organic revolution.
4. The definition of similarities and differences in the patterns encountered within the
human species, and of the degree of plasticity in these systems, are basic to human
understanding and important to human welfare.

D. Applications of Genetics
Like any basic sciences, genetics is also applied to human advantages. All information
regarding hereditary mechanisms are powerful tools in the applied sciences that affect
mankind economically, socially, and politically.

1. Plant, Animal and Microbial Improvement 2. Medicine

3. Genetic Counseling 4. Legal Applications
5. Recombinant DNA Technology
 LECTURE TWO: THE CHROMOSOMAL BASIS OF HEREDITY

A. The Cell
All forms life except viruses, consist of cells. This is true for single-celled or multi-cellular
organism. The cell usually consists of two distinct areas which, in living cells, are in constant
motion: cytoplasm, the major portion of the protoplasmic substance contained in the cell
membrane; and the nucleus, the dark straining body within the cytoplasm.
In the prokaryotes, like bacteria and blue-green algae, there is no nuclear membrane that
separates the nuclear membrane that separates the nuclear material from the cytoplasm. In the
eukaryotes, on the other hand, a nuclear membrane separates the genetic material from the
cytoplasm. These eukaryotes include the major of the living species and multi-cellular organism.

Figure 2-1. Diagram of an animal cell.

1. Cytoplasm
Several organelles are found in the cytoplasm. Such organelles are concerned with active
cell function and their presence or size may vary between different organism and different tissues.
Generally, the following organelles are observed in the eukaryotes:
1. Mitochondria 4. Ribosomes
2. Golgi Apparatus 5. Centrosome and the
accompanying
3. Endoplasmic Reticulum or Ergastoplasm 6. Chloroplasts
2. Nucleus
C. Cell Division
Cells divide to give rise to new cells and it is through cell division that the mechanisms of
genetic transmission could be explained. There are two types of cell division, namely mitosis and
meiosis.
1. Mitosis
The mechanism of cell division by which the genetic and chromosome composition
of a cell is faithfully reproduced in each of the daughter cells is called mitosis. I t is the
process of reproduction in the unicellular organisms and a means of growth and
replacement in multicellular organisms.
Growing cells undergo the cell cycle, which consists of four distinct phases: G-
1,S,G-2 and M. While G-1, S and G-2 phases are distinguishable biochemically, they could
not be distinguished morphologically. These phases consist of the non-mitotic stage:
 Interphase

Figure 2-2. Diagram of the cell cycle.

1.1 S-Phase. It is the first gap period of the longest phase in the cell cycle. During this
phase, the cell increases in volume by imbibing water and nutrients and building new
protoplasm and cytoplasmic organelles, such as endoplasmic reticulum, Golgi
apparatus, ribosomes, mitochondria and chloroplasts. In addition to the cytoplasmic
organelles, secretion granules, storage granules and cell wall materials are also
elaborated. Strictly speaking, therefore, this phase is only a gap in the reproductive
life of the cell.

1.2 G-2 Phase. During this period the DNA replication or synthesis is the most important
activity in the cell

1.3 G-2 Phase. The second gap of the period is characterized by the synthesis of RNA
and proteins necessary for
chromosome synthesis and for the mitotic spindle. This period is generally shorter than
the G-1 and S-
phases.

1.4 M Phase. During this period

structural changes of chromosomes
are visible. The M phase may be
subdivided into four stages, namely:
prophase, metaphase, anaphase,
and telophase.

1.4.1 Prophase. This stage is

characterized by the appearance of
coiled, contracted threads- the
chromosomes. The chromosomes
are longitudinally double, each half is
a chromatid. The chromatids are
closely apprised to each other
throughout their length, at the same
time twisted around each other.
During prophase, the chromosomes
shorten and thicken and the
nucleolus diminishes in size.
In some cells the centrosome
divides into two portions each
containing a centriole. One migrates
along the nuclear membrane until it is
opposite to the other.
Figure 2-4. Mitosis in onion (Allium cepa L.). a. Prophase; b.
Metaphase; c. Anaphase; d. Telophase (x200 )
 1.4.2 Metaphase. The nuclear membrane disappears at metaphase and the spindle
fibers soon appear.
The chromosomes, which are maximally condensed, and the chromatids
in each chromosome, which separate from each other except at the
centromeres, align at the equatorial plate. The spindle fibers are attached
on the opposite sides of the centromere.
1.4.3. Anaphase. The centromeres become functionally double at anaphase and the
chromatids begin to move toward the opposite poles. The chromatids first separate at
the centromere and the arms are passively dragged along. The pole ward movement of
the chromosomes is due to the depolymerization of spindle fibers attached to the
kinetochore.
1.4.4 Telophase. Upon reaching the opposite poles, the chromosomes regroup into the
two nuclear structures at the telophase. In each nucleus the chromonemata unwind, the
chromosomal proteins disperse, thus losing their stainability. At the same time the
nucleolar organizers are activated to synthesize the new nucleolar materials. Each
daughter cell now enters the G-1 phase of the cell cycle.
2. Cytokinesis
2.1 In plant cells, cytokinesis is accomplished by the formation of the cell plate. As the
chromosomes separate during anaphase, the cytoplasm divides and the cytoplasmic
contents are distributed. At the same time the phragmoplast is formed at the metaphase
plate. The phragmoplast increases in diameter as cytokinesis continues until it reaches
the lateral walls. A thin membrane forms across the center opening of the phragmoplast
and eventually cuts the cell into two. This membrane is the cell plate, the primordium of
a new cell wall.
2.2 In animal cells, cytokinesis proceeds by furrowing. It originates as an indentation of
the outer membrane at the position of the metaphase plate. This indention gradually
moves inward and halves the cell into two daughter cells.
3. Consequences of Mitosis
Mitosis produces two daughter cells whose chromosomal compositions are identical to
each other and to the parent cell. These may then serve as the material bases for genes. The
chromosome is transmitted by all cells to their daughter cells. The chromosomes have several
properties of interest with respect to genes.
3.1 Chromosomes are reproduced and transmitted equally to the daughter cells so that
these are identical to each other and to their parent cell. Genes arise only by replication
of pre-existing genes. A different allele may arise from a gene only by mutation.
Chromosomes may become visibly altered and all chromosomes have exactly the same
alterations. Therefore, both genes and chromosomes are capable of mutation and are
subsequently involved in replicating their new form.
3.2 The gene retains its individuality regardless of the nature of its allele. The
chromosomes also retain their individuality as indicated by the following proofs:
3.2.1. Chromosome holds the same relative position at late anaphase and
telophase as they enter the next prophase at the succeeding mitosis. This means they
have retained their integrity during interphase.
3.2.2. The parts of the chromosome associated with the nucleolus remain
associated during the interval.
3.2.3 Homologues that have mutated retain their separate difference, mitosis after
mitosis. This indicates that each homologue, like each allele, has retained its individuality
cell generation after cell generation.
4. Meiosis
In sexually reproducing organisms, the special kind of cell division whereby the
chromosome number of the cells is reduced to half its usual number is called meiosis. This is in
preparation for the production of the male and female gametes which, when fused during
fertilization, will restore the chromosome number of the species. Like mitosis, meiosis is preceded
any the G-1S and G-2 phases of the cell cycle. Unlike mitosis, meiosis consist of two nuclear
divisions following each other in rapid sequence: Meiosis I (reduction division) ; Meiosis II
(equation division)

Figure 2-5a. Meiosis I in teosinte (Zea mays Mexicana L.). a. Leptotene; b. Zygotene;
c. Pachytene; d. Diplotene; e. Diakinesis; F. Metaphase; H. Telophase I (x200).

Figure 2-5b. Meiosis II in teoxinte (Zea mays Mexicana L.)

a. Prophase II; b. Metaphase II

4.1. Meiosis I. (Reduction division). Thus, four stages – Prophase I, Metaphase I, Anaphase I
and Telophase I are observed in Meiosis I.
4.1.1 Prophase I. The sub-stages of prophase I are the leptotene stage, zygotene stage,
pachytene stage, diplotene stage, and diakinesis.
a. Leptotene stage. This stage does not differ appreciably from the earliest prophase
stages in mitosis. The chromosomes are slender, long with many bead-like structures
(chromomeres and knobs) along their length. They generally appear as single as
individual structures. In some plants, the chromosomes are clumped in one side of the
nucleus (synizesis) while in some animals, they tend to be drawn toward the part of the
nuclear membrane close to the centriole.
b. Zygotene Stage. The pairing of homologous chromosomes (or chromosomes that are
identical in their genetic loci and in their visible structures) begins at the zygotene stage.
 The paired homologous chromosomes from bivalent5s (II). Synapsis is very precise so
that homologous chromosomes from bivalents (II). Synapsis is very precise so that
homologues pair side by side, chromomere by chromomere, and proceed in a zipper-like
fashion. The mechanism of specific pairing is not yet known but once the homologues are
attached to each other, a synaptonemal complex forms between them. The
synaptonemal complex is composed of two lateral elements and a central element lying
between them. Microfibrils bridge the lateral and the central elements. At certain intervals
corresponding to the centromeres, microfibrils from the lateral elements attached to the
paired chromosomes. After the chromosomes are closely associated, molecular pairing
occurs during which gene-by-gene matching takes place. The synaptonemal complex is
essential for crossing over.
c. Pachytene Stage. The chromosomes are thickened owing to the coiling and are so
closely oppressed that they may not be easily resolved. Each of the chromosomes or
bivalents consist of four chromatids. During this stage chromatid breaks occur and are
repaired. These repairs may entail crossing-over between homologues and the
consequent formation of chiasma at the point of exchange. The precision in terms of the
location of breaks by crossing-over on the DNA molecules is facilitated by the
synaptinemal complex. During the pachytene stage, the nucleolus is particularly evident
and certain chromosomes are attached to it: the nucleolus organizer.
d. Diplotene Stage. The longitudinal separation of the bivalent’s initiates diplonema. The
homologues separate starting from the centromere toward both ends except at the
chiasmata. At this stage, the synaptonemal complex is no longer functional, hence the
separation of the strands. The chromosomes are actively shortening and their coiled
nature is very apparent. Later, the chiasmata appear to move toward the end, in the
process known as thermalization.
e. Diakinesis. The chromosomes become more contracted and assume unique
configurations due to the repulsion of the chromatid pairs. During this stage the nucleolus
begins to disintegrate and the spindle formation begins. The bivalents are distributed
evenly in the nucleus.
4.1.2. Metaphase I. The nuclear membrane disintegrates and the spindle appears. The
bivalents move to the metaphase plate where they become oriented properly. At
Metaphase I the bivalents are so oriented that the centromeres are positioned on both
sides of the metaphase plate rather than directly on the metaphase plate.
4.1.3. Anaphase I. The chromosomes move from the metaphase plate to the poles during
Anaphase I. The homologues segregate from one another so that each anaphase group
is composed of haploid number of chromosomes. This process, therefore, accounts for
the reductional phase of Meiosis I.
4.1.4. Telophase I. The chromosomes regroup and their coiled structures begin to relax.
The cytoplasm is divided and, in some species, the nuclear membrane is formed. A brief
transitional stage called interkinesis occurs before the cell proceeds to the next stage.
4.2 Meiosis II (Equational Division)
4.2.1 Prophase II. This stage is similar to mitotic prophase except that it has half the
chromosome number. The chromosomes appear as double structures. The nucleolus and
the nuclear membrane disintegrate during the Prophase II.
4.2.2 Metaphase II. Two new spindles are formed in the position of the nuclei and the
chromosomes align on the equatorial plate of their respective spindles.
4.2.3 Anaphase II. The daughter chromosomes move toward the opposite poles. The
chromosomes at this stage are more like the chromosomes at mitotic anaphase.
4.2.4 Telophase II. The chromosomes uncoil and lengthen. The nuclear membrane and
the nucleolus reappear. Each of the four daughter cells is a haploid.
5. Cytokinesis
 Cytokinesis varies considerably from species to species. In some species, a cross wall is
developed at the Metaphase I plate at the end of the Meiosis I and a second wall at the right angle
to the first develops after Meiosis II. In other species, the two walls develop simultaneously after
Meiosis II.
6. Consequences of Meiosis
Meiosis I is reductional division because each daughter nucleus contains only half
chromosome number of the parental cell. A chromosome in one daughter nucleus has its
homologue in the other daughter nucleus. Each of the homologues may have different
genetic composition because of the initial differences between the paternal and maternal
chromosomes as well as the recombination’s brought about by the exchanges of
segments during the chiasmata formation.
Meiosis II is equational division. Each of the two daughter nuclei of Meiosis I undergo
mitosis, producing four haploid nuclei.
6.1. Because of the reduction division at Meiosis I, meiosis makes possible the
conservation of the chromosome number from the generation to generation in the sexually
reproducing organisms. The haploid gametes restore the diploid number upon fertilization.
6.2. A t Telophase I, each paternal and maternal chromosome has equal probability of
being located at one or the other daughter nucleus. Consequently, paternal and maternal
chromosomes may be combined in each gamete. The number of possible combinations
of paternal and maternal chromosomes will be equal to 2 n, where n is the number of
chromosomes in the genome. The probability, therefore, of a gamete containing only the
chromosomes from one parent is equal to (1/2)10. For example, the probability that a corn
pollen grain contains only the chromosomes from its female parent is (1/2) 10 or 1/1024.
6.3. At the end of the meiosis, each of the four daughter cells contains one representative
of each pair of chromosomes present in the nucleus at the start of the meiosis. Meiosis,
therefore, provides the physical basis for the segregation on paired genes. The gene pairs,
which are located on specific segments of the homologous chromosomes, will be
distributed in the daughter nuclei as homologues or chromosomes segments are
distributed during meiosis.
6.4. Crossing- over between non- sister chromatids is the mechanisms by which genes
may be shuffled and exchanged. Because of these non- sister chromatid exchanges, the
number of different kinds of gametes with genetic combinations and recombination’s is
virtually infinite. These wide genetic variabilities are in turn essential for evolution.
D. Life Cycles
The General Pattern of Eukaryotic Life Cycles
The Life cycles of all eukaryotes have a common pattern, but specific groups may
vary from this pattern to a larger or less extent.
The common theme involves the following:
a. diploid phase, which is characterized by a
series of mitotic divisions, followed by….
b. meiosis, the first step in gamete formation,
which may be followed by…
c. a series of haploid mitotic divisions, and
then….
d. Fertilization or fusion of two gametes or
haploid nuclei, thus restoring the diploid
phase.

Figure 2-6. A generalized eukaryotic life cycle

Several variations of this generalized life cycle will be discussed, taking into account the time
in each life cycle when meiosis takes place. On this basis, three different types may be
identified- those that exhibit terminal meiosis, intermediate meiosis, and initial meiosis.
1. Terminal Or gametic meiosis
This is found in animals, including humans, and some lower plants. Figure 2-7 is a
diagrammatic representation of man’s life cycle. In the reproductive organs of this
organisms, meiosis occurs immediately before the formation of gametes. In the male, the
spermatogonia give rise to primary spermatocytes. Meiosis produces four spermatids
which by differentiation, are transformed into four spermatozoa, each with haploid
chromosome number. In the female, the oogonia give rise to primary oocytes and
secondary oocytes. After meiosis II four haploid daughter nuclei are produced, three of
which become infertile polar bodies and one becomes the mature ovum. The ovum may
be fertilized by an X carrying sperm cell (22+X) to produce a female (44+XX) progeny or
by a Y carrying gamete to produce a male (44+XY) progeny.

Figure 2-7. Diagram of spermatogenesis and oogenesis in humans.

2. Intermediary or sporic meiosis

Flowering plants show this type of meiosis. Figure 2-8 shows a typical
example where meiosis takes place at some intermediate time between fertilization
and the formation of the gametes.
In higher plants like (e.g. corn), the anthers and pistils produce microspores
and megaspores, respectively. Microspore mother cells undergo meiosis giving
rise to four functional microspores. Each microspore undergoes mitosis to produce
two daughter nuclei, one of which undergoes another mitotic division. A pollen
grain, therefore, contains three haploid nuclei: one pollen tube nucleus and two
sperm nuclei.
On the other hand, each megasporocyte produces four megaspores by
meiosis, three of which degenerate. The remaining megaspore undergoes three
mitotic divisions producing eight haploid nuclei; three become antipodals, two
synerids, two polar nuclei and one egg nucleus.
During fertilization the pollen tube nucleus forms the pollen tube to deliver
the two sperm nuclei to the ovary; one sperm nucleus fusing with the polar nuclei
to produce a 3n endosperm while the other sperm nucleus fuses with the egg
nucleus to produce the 2n embryo.
 Figure 2-8. Life cycle of corn (Zea mays L.)

3. Initial or Zygotic meiosis

Initial or zygotic meiosis is exhibited by some algae, fungi, and diatoms and is
characterized by the occurrence of meiosis immediately after fertilization. In this case only the
zygote is diploid. Figure 2-9 shows the life cycle of bread mold (Neurospora crassa).

Figure 2-9. Life cycle of bread mold (Neurospora crassa)

Fertilization is affected by the fusion of conidia from a colony of Mating type A with conidia
of Mating type B colony, producing a diploid (2n) zygote. Meiosis immediately follows, to produce
four spores each of which undergo one mitotic division. The resulting ascus contains eight haploid
ascospores. Each ascospore may germinate to form a new colony.
 LECTURE 3: GENE SEGREGATION AND INTERACTION

To understand fully the transmission of the genetic material or the modes of inheritance,
the behavior of obvious biological characteristics should be traced between generations.
It is important at this point to establish the distinction between genotype and phenotype. In
1909, Wilhelm Johannsen (1857-1927) pointed out that phenotype referred to the appearance
of the organism its morphology, physiology and behavior. Genotype, on the other hand, is the
genetic constitution that an individual inherits. In the lifetime of this individual, therefore, the
phenotype may change but the genotype remains constant. This is because the phenotype
results from complex networks of interactions between different genes and between genes and
the environment.
A. Law of Segregation
Mendel’s work on garden peas involved testing seven characters individually by hybridizing two
varieties showing alternatives traits like tall and short or yellow seeded plant and of green-seeded
plant. The parental plants (P generation) were from pure breeding lines or varieties and were
therefore homozygous for the specific character. For example, the cross between round-seeded
plants and wrinkled-seeded ones yielded a first-generation progeny (F1, or first filial generation)
that produce round seeds. When the F1 plants were self-fertilized, examples of round seeds and
wrinkled seeds appeared in the second generation or F2.
The following pattern was established from summarizing the results of Mendel’s hybridization
works:
1. For any character, the F1 showed one of the alternative traits. Such character that was shown
was dominant and the character that was hidden was recessive.
2. Reciprocal crosses gave the same results.
3. The trait that did not appear in the F1 reappeared in the F2., but in a frequency of ¼ of the total
number.
From the observation it was deduced that each parent must have contributed equally to the
progeny. This was further supported by the fact that in the a F2. 3:1 segregation of the dominant:
recessive trait was observed. This means that F1 contains the two alternative factors or is
heterozygous, Rr. These two factors or alleles separate or segregate from each other during
gamete formation in the F1, so that some gametes carry R and others, r. these two types of
gametes occur at equal frequencies in the ova and in the pollen grains. Self-fertilization of the
F1causes the random combinations of the male and female gametes to form the embryos,
accounting for the 1:2:1 genotype ratio and 3:1 phenotype ratio, as follows:
Parent Generation: RR (Round Seeds) x rr (Wrinkled Seeds)

Gametes: R (Female Gamete) r(Male Gamete)

First filial generation (F1) Rr (Round Seeds)

Self –fertilized (x)

Gametes:
R r
Male Gametes
Females Gametes R r
Second Filial R RR (Round) Rr (Round)
Generartion (F2) r Rr (Round) Rr (Round)

Genotypic ratio: 1 RR: 2 Rr: 1 rr

Phenotype ratio: 3 rounds (R_): 1 Wrinkled (rr)
 The inheritance of seed characteristics follows complete dominance. The homozygous
dominant (RR) and heterozygous (Rr) exhibited the same phenotype (round). If there is complete
dominance, the expected, F2 ratio is 3:1 (3 round: 1 wrinkled). For complete dominance, the
presence of one dominant allele will be enough to express the dominant trait. Hence, the
phenotype of RR and Rr is the same.
Based on these results, Mendel propose his Law of Segregation.
The law states that unit of hereditary characters (e.g., round vs. wrinkled) occur in pairs, and that
in the formation of gametes during meiosis, these separate from each other so that only one
member of the pair goes into a particular gamete. It is a matter of chance whether a particular
gamete gets the dominant or the recessive allele. Fusion of the male and female gametes during
fertilization to form the embryo will restore the diploid number.
The results of Mendel’s experiments are summarized in Table 3-1
Table 3-1. Summary of the results of Mendel’s experiments.
F2
Frequency Percentage
Character F1 Dominant Resessive Total Dominant Recessiv
e
1.Purple vs. White All Purple 705 224 929 75.89 24.11
flowers
2.Axial vs. All Axial 651 207 858 75.87 24.13
Terminal flowers flowers
3.Inflated vs. All Inflated 882 299 1181 74.68 25.32
Pinched pods
4.Green vs. All Green 428 152 580 73.79 26.21
Pinched pods
5.Round vs All Round 5,474 1,850 7,324 74.74 25.26
Wrinkled seeds
6.Yellow vs. Green All Yellow 6,022 2,001 8,023 75.06 24.94
seeds
7.Tall vs. Short All Tall 787 277 1,064 73.97 26.03

B. Law of Independent Assortment

Mendel’s Law of Segregation applies to the behavior of a single pair of alleles or a single gene.
When two or more genes/ pairs of alleles are considered simultaneously, his second law, the Law
of Independent Assortment, applies. The Law of Independent Assortment states that genes for
different characters are inherited independently of one another or alleles of different gene pairs
separate independently from each other and randomly combine during meiosis.
Mendel based his second law on the results of his dihybrid crosses. Considering the genotypes
of the parents (RRYY and rryy) the alleles of the two gene pairs (R vs. r and Y vs. y) will separate
independently from each other and randomly combine during meiosis, hence the gametes
Genotypic/phenotypic ratio: 1 mt+ y+ : 1mt+ y : 1 mt- y+ : 1 mt- y
One advantage in four haploid meiotic products (tetrad) of an individual zygote. Each product
can be separately cultured and the product’s phenotypes and genotypes analyzed. It is also
possible to determine first division and second division segregations. First division segregation
means that the separation of different parent alleles occurs in the first meiotic division. Second
division segregation is the result of a crossover between two chromatids of the homologues in the
region between the genes and the centromere so that the two different alleles remain together in
the Meiosis I products, but separate in Meioses II.
E. Dominance Relationships
Mendel’s work demonstrated complete dominance relationship between two different
alleles for each gene pair. As more experiments were conducted, some phenotypes and ratios
could not be explained on the basis of complete dominance. These exceptions did not in any way
disprove Mendel’s principles; rather, they extended and developed them.
1. Incomplete dominance or no dominance
In this case dominance is absent and the progeny does not resemble any of its parents.
The F1s are intermediate between the two parents, e.g., flower color in Mirabilis jalapa (four
o’clock plant).
P1 and P2; RR (Red) X Rr(White)
F1 Rr (Pink)
F2; 1 RR (Red) : 2 R4 (Pink) : 1rr (White)

2. Overdominance

In case of overdominance, the heterozygote exceeds the phenotype

measurements of the homozygous parents. For example, heterozygous w + w in
Drosophila has a higher amount of fluorescent pigments (sepiapteridine and himmelblaus)
than those of the white (w/w) and wild type (w+w+) homozygotes.

3. Co-dominance
When each allele of a gene is associated with a specific substance, co-dominance
will occur when both substances appear together in the hetozygote, e.g., M-N blood types
in man. Landsteiner and Levine (1927) were able to classify people into three general
types based on the agglutination characteristics of the red blood cells.
Blood type Genotype Agglutinogen
Agglutinin
M MM M Anti-N
N NN N Anti-M
MN MN M;N None

F. Mutiple Alleles
It is generally assumed that a gene pair has only two alleles. This conditions arises
from the presence of homologous pairs of chromosomes in the diploid organisms and
each one contains one allele of the gene pair. However, there are many reported cases
where more than two alleles exist in a gene and are defined as a system of multiple
alleles. In the multiple allelic system, the alleles act within the same phenotypic range
and are called isoalleles. Many such isoalleles have been discovered, some within the
phenotypic range of an abnormal character, mutant isoalleles, and some within A
multiple allelic system may, therefore, be quite complex, including various subsidiary
isoallelic systems.
Some examples are ABO blood groups in humans. Landsteiner (1900) classified
people into four groups according to the antibodies (agglutinins) present in the serum and
the antigens (agglutinogens) present in the red blood cells (Table 3-2)
Table 3-2 ABO blood groupings in man based on the presence of agglutinins and
agglutinogens.
BLOOD CONTAINS REACTION OF RED
GENOTYPE BLOOD/CELLS WITH
 BLOOD Celluar Serum Anti-A Anti- B
TYPE Agglutinogen Agglutinin
A IAIA;1Ai A Anti-B + +
B IBIB;IBi B Anti-A - -
AB IAIB A;B None + +
O ii None Anti-A & - -
Anti – B
a
+ stands for agglutinations, while - stands for no agglutination

There are many other blood group systems in humans and about half of them are multiple
allelic systems (Table 3-3).
Blood Group System Date Discovered Probable No. of Alleles
ABO 1900 5
MNSs 1927 20+
P 1927 4
Rh 1940 30+
Lutheran 1945 3
Kell 1946 6
Lewis 1946 2
Duffy 1950 3
Kidd 1951 3
Diega 1955 2
Yt 1956 2
I 1956 2
Xg 1962 2
Dombrock 1965 2

Haploid organisms also have multiple allelic systems but unlike the diploid
organisms which have two alleles at a time, they only have one allele in every organism.
G. Lethal Genes
Certain genes can cause the death of an organisms. These genes may exert their
effect early in life so that death comes when the embryo is newly formed. In other cases
the embryo may develop normally for a time and then die at later stages of embryonic
development. Lethality may exist as recessive lethals or dominant lethals.

1. Recessive lethal are those that are lethal when in the homozygous recessive
phenotypic effect.

1.1 Lethal genes, which have a dominant phenotype effect in the heterozygote,
are lethal in the homozygous recessive condition. For example, heavy
freckling in humans caused by the gene for Xeroderma pigmentosum has
a dominant phenotypic effect which becomes lethal when the gene is
homozygous recessive.
1.2 Lethal genes whose phenotypic effects are ordinarily recessive have no
observable phenotypic effect in the heterozygote but produce a noticeable
and eventually lethal change in homozygous recessive, e.g., infantile
amaurotic idiocy in humans.

2. Dominant lethal are genes whose lethal effects occur when a dominant allele is
present in a homozygous or heterozygous condition. For instance, the heterozygote
of the gene for epiloia in human results in abnormal skin growths, severe mental
defects and multiple tumors, causing early death. Huntington’s disease which results
to progressive degeneration of the central nervous system can cause death when a
heterozygous individual reach 40 years old.
 3. Penetrance of lethal gene. The penetrance of lethal genes, recessive or dominant,
may vary. Some lethal genes have a high degree of penetrance and expression,
allowing little or no survival among the affected genotypes beyond the embryonic
stage. Others called the semi-lethal permit a large proportion of affected genetypes
to survive.

4. Environmental influence on lethal genes. Some lethal genes may be influenced

by the environment in the sense that the organism may be able to service permissive
conditions and cause lethality under restrictive conditions. Such lethal are called
conditional lethal. Several patterns of lethality have been observed.
H. Modifier Genes
Modifies are genes that change the phenotypic effects of other genes in a
quantitative fashion. The specific modes of action of the modifiers are not always known
but as a rule, modification is achieved either through dilution or enhancement of the effect
of the major genes.
Modifiers of mutant genes also exists and, in some cases, they completely
suppress the phenotypic expression of the mutant gene. Such modifiers are called
suppressors. Modifiers may be dominant or recessive, they may have large or small
quantitative phenotypic effects.
I. Gene Interactions
Researchers, like Bateson and Punnett (1905), discovered that genes were not
merely separate elements producing distinct individual effects, but they could interact with
one another giving entirely different phenotypes. These interactions result in phenotypic
ratios different form and those of independent assortment: the modified ratios.
1. Novel Phenotypes- there is a complete dominance in both gen pairs. New phenotypes
result from the interaction between dominants, and also from the interaction between both
homozygous recessives, e.g. comb shape in a poultry
Gene Assignment: R_ Rose dominant to non-rose (rr).
P_ Pea is dominant to non-pea (pp).
a. P1 & P2 RR (rose) X rr (single)
F2 3 R_ (rose) : 1 rr (single)

b. P1 & P2 PP (pea) X pp (single)

F2 3 P (pea) : 1 pp (single)

c. P1 & P2 RRpp (rose) X rrPP (single)

F1 RrPp (walnut)
F2 9 R_P_ (walnut)
3 R_ pp (rose)
3 rrP (pea)
1 rrpp (single)

Phenotypic Ratio: 9:3:3:1

Interaction: Interaction of the dominant alle P and R produces walnut comb while interaction
between the homozygous recessive (pp and rr) produces only single comb.

2. Recessive Epistasis
 There is complete dominance in both gene pairs, but one gene, when homozygous
recessive hides or masks the effect of the other, e.g., mouse coat color.

Gene Assignment: A _ Agouti is dominant to black (aa)

C_ Color expression is dominant to color inhabitation (cc)}

P1&P2: CCaa (Black) X ccAA (Albino)

F1 : CcAa (Agouti)
F2 : 9 C_A_ (Agouti) 9
3 C_aa (Black) 3
3 ccA_ (Albino) 4
1 ccaa (Albino)

Phenotypic Ratio: 9:3:4

Interaction: the homozygous recessive (cc) is epistatic to agouti and black.

3a. Dominant Epistasis

There is complete dominance at both gene pairs, but one gene, when dominant, mask the
effect of the other, e.g., fruit color in summer squash.
Gene Assignment: W _ White is dominant to color (ww)
Y_ Yellow is dominant to green (yy)
P1 & P2 : WWyy (White) X wwYY (Yellow)
F1 : WwYy (White)
F2: 9 W_Y_ (White)
3 W_yy (White) 12
3 wwY_ (Yellow) 3
1 wwyy (Green) 1

Phenotypic Ratio: 12:3:1

Interaction: Dominant white hides the effect of yellow or green.

3b. Dominant Epistasis

There is complete dominance at both gene pairs, but one gene, when dominant, is
epistatic to the second. The second gene, when homozygous recessive, is epistatic to the first,
e.g. feather color in fowl.

Gene Assignments: I_ Color inhibition is dominant to color expression (ii)

C_ Color is dominant to non-color (cc)
P1 & P2: IICC (White leghorn) X iicc (White Wyandotte)
F1: IiCc (White)
F2: 9 I_C_ (White)
3 I_ cc (white) 13
1 iicc (white)
3 iiC_ (Colored) 3

Phenotypic Ratio: 13:3

Interaction: Dominant color inhibitor (I_) prevents color even when color gene is present; color
gene (cc) when homozygous recessive prevents color even when dominant inhibitor is absent.

4. Complementary Genes
There is complete dominance in both gene pairs, but either recessive homozygote is
epistatic to the effect of the other gene, e.g., flower color in pea. Both gene P and C are required
for pigment production.

Gene Assignments: P_ Purple is dominant to white (pp)

C_ Color expression is dominant to non-color expression (cc)

P1 & p2: PPCC (Purple) X ppcc (White)

F1: PpCc (purple) 9
F2: 9 P_C_ (Purple)
3 P_cc (white) 7
1 ppcc (white)
Phenotypic Ratio: 9:7
Interaction: The genes P and C produce enzymes that catalyze successive steps in a chemical
process leading to production of pigments, as follows:
Gene P Gene C

Enzyme P Enzyme C
Precursor White Purple
5. Duplicate Genes
There is complete dominance in both gene pairs but either gene, when dominant, is
epistatic to the other, e.g., seed capsule of Shepherd’s purse (Bursa).

Gene Assignment: A_ Triangular is dominant to ovoid (aa)

B_ Triangular is dominant to ovoid (bb)

P1 & P2: AABB (triangular shape) X aabb (Ovoid)

F1: AaBb (triangular)
F2: 9 A_B_ (triangular)
3 A_ bb (triangular) 15
 3 aaB_ (triangular)
1 aabb (ovoid)

Phenotypic Ratio: 15:1

Interaction: A dominant allele at either gene pair hides the effects of the ovoid.

J. Pseudo alleles
Pseudo alleles were first demonstrated by E.B. Lewis in 1951 when the analyzed the Star-
asteroid case in Drosophila. He found a recessive in Drosophila producing a small rough eye
when homozygous. It was found in the same location as Star, a dominant characteristic. The
phenomena of multiple allelism include satisfying same location on the chromosome and having
similar function.
However, when a large number of progeny of Star x Star-recessive was classified, a few
wild type recombinants were identified. These recombinants represented crossover between the
loci. This indicated that star and star-recessive were two different mutants closely situated on the
chromosome. They are therefore, pseudo alleles. The Star-recessive was then renamed asteroid
(ast) and the dominants mutant, Star (S).
Further observations showed that the types of heterozygotes produced different
phenotypes as follows:
1. S AST= Cis form = normal eyes
S ast
2. S ast= Trans form = much reduced eyes
s AST
This phenomenon was called Lewis Effect of Position Effect, where the phenotype was
determined not only by the genotype but also by the position of the different alleles on the
chromosome. When two dominants, S and AST, are on the same chromosome (Cis form), normal
eyes are produced. In the Trans form, when one dominant and one recessive on one
chromosome and their respective recessive nd dominant alleles on the other chromosomes
produced much reduced eyes.

K. Environmental Influence on Gene Expression

The phenotype of an organism is the product of the interaction of its genes and its
environment. The genotype provides the messages and direction for phenotypic growth and
behavior; and the environmental factors, such as food, suitable temperature, and light must be
supplied so that the organism may develop and continuously exist. The developmental process
has many individual steps and at each step, interaction between the genotype and the
environment occurs. On account of this, one cannot definitely say that a particular gene
determines a particular character. It is probably more true to say that a phenotype is the result of
the close-knit interaction among many factors at many levels of development. It follows, therefore,
that a given genotype may give rise to different phenotypes in different environments. Certain
genotype that are adapted in one environment may not survive in another environment.
Because of the variable interaction between a genotype and different environments, it is
now easy to see that the genotype determines the range of the phenotype that may develop. This
is referred as the range of reaction of the genotype. The phenotype that will be realized depends
on the environment in which development takes place. This means that one will not be able to
know the entire range of reactions of genotype because it is not possible to expose an individual
to all possible kinds of environments.
1. Definition of terms
Some genes have very defined phenotypic expression, e.g., genes for pea characteristics
studied by Mendel. There are, however, some genes that exhibit variability in expression, i.e. not
all individuals of certain genotypes manifest the expected phenotype and the phenotype may be
expressed at different degrees in different individuals.
In understanding the genotype- environment interactions certain terms are useful.
1.1 Penetrance refer to the proportion of genotypes that shows an expected phenotype. It
is a statistical concept of the regularity with which the gene is expressed.
1.2. Expressively is the degree to which a particular phenotypic effect is expressed by the
individual.
In Drosophila melanogaster, the dominant mutation Lobe (L), characterized by a
reduction in eye size, has penetrance of 75% (only 75% of individual carrying the L gene have
reduced eyes and 25% have normal eyes).furthermore, the gene L has variable expressivity,
because the range of phenotypic expression is from very small to almost normal.
1.3 Pleiotropy is a situation in which one gene has multiple phenotypic effects.
For example, Mendel observed that a gene simultaneously affected flower color
(red or white), seed color (gray or brown), and presence or absence of reddish spots on leaf axils.
In humans, the homozygous recessives for the phenylketonuria gene differ from
the normal (homozygous dominants and heterozygotes) in the amount of phenylalanine in the
blood, in head size, in hair color and in I.Q.
1.4. Phenocopy means an environmental mimic of gene action. In this instance the
environmental mimic of gene action. This instance the environmental influence is sufficiently
strong so that the resulting phenotype simulates the effect of certain genes. For instance,
diabetics on insulin become phenotypically normal.
The environmental factors that may be responsible for differences in penetrance and
expressivity may be divided into external environment and internal environment.
2. External environment
External environment effects are those leading to phenotypic changes that seem directly
correlated with observable changes outside the organism. Following are some examples:
2.1. Temperature. There is a close correlation between the rate of chemical reactions
and temperature. Since the basic developmental effect of many gene is to control the rate of a
specific reaction, a change in temperature can be expected to have widespread effects on
development, e.g., red color of the flower primrose at room temperature and its white color at
temperature over 30oC.
 2.2. Light. Energy provided by light and light itself is essential for the growth and
development of plants and animals. For example, seedlings grown in the dark do not survive long
because chlorophyll is not developed even though there are genes for chlorophyll development.
Another example is the gene sun red in corn. In plants with this gene, the parts exposed
to the sun are red but those in shaded areas are green.
2.3. Nutrition. Food provides energy for carrying out necessary processes and
materials that must be incorporated into necessary structures. Genetically, different organism,
even of the same species, usually differ in the kind and amount of nutrients they require.
Depending upon its genotype, simple dietary changes can lead to different phenotypes, e.g., the
appearance of yellow fat kin rabbits depends on the genotype yy and green vegetables eaten.
Elimination of green vegetables also eliminates the appearance of yellow fat.
2.4. Maternal Relations. In case of mammals where the direct body relations between
parent and progeny extend beyond fertilization, interaction between the fetus and the maternal
environment occurs. For example, blood group incompatibilities between mother and offspring
produces special effects on the survival of particular genotype.
3. Internal Environment. Internal environment effects are those leading to phenotypic
changes that appear correlated primarily to changes within the organism. The following
are some examples:
3.1. Age. As an individual grows older there are certain phenotype changes that occur
which allows further genotypic effects to be expressed, e.g., age of onset of different
genetic traits in humans.
Genetic Trait Usual age of onset
1. Blood-group antigens prenatal
2. Alcaptonuria birth
3. Infantile amaurotic idiocy 4-6 months
4. Vitamin D-resistant rickets 1 year
5. Severe muscular dystrophy 2-5 years
6. Juvenile amaurotic idiocy 5-10 years
7. Periodic paralysis 10 years
8. Pattern baldness 20-30 years
9. Diabetes mellitus 40-60 years

In all cases the genes responsible for the particular traits are present after fertilization;
only the appearance of the effect depends on the age of the organism.
3.2. Sex. Sexual phenotypic difference are evident in the reproductive structures and
specialized behavior of each sex.
3.2.1. Some traits are sex-limited in the sense that they appear in one sex and
not in the other, e.g., genes that influence milk yield in humans and dairy cattle.
3.2.2. Some hereditary traits are more common in one sex than the other. These are
called sex-controlled or sex-influenced traits, such as harelip, pattern
baldness and gout occurring more frequently in men than in women. On the
 other hand, spina befida (forked spine with open spinal cord) is found more
frequently in women than in men.
3.3. Substrates. The kinds of reaction that take place in an organism depends largely
on the substrates present. These substrates are synthesized by the organism and their presence
or absence may be genetically controlled. For instance, in diabetes mellitus, sugar levels normally
controlled by insulin are not properly regulated resulting in high-blood-sugar level and excretion
of sugar in the urine.
This eventually leads to a change in body metabolism from the use of sugar for energy
to excessive use of fatty acids. Coma and death may ensue.
L. Twin Studies
Not all character is determined by simple genetic effects which have easily observable
relationships with simple environmental changes. Some traits are probably the result of complex
genetic-environmental interactions but are measured as single traits, e.g., I.Q. and crops yield.
Because of the complexity of such characters, it is usually difficult to define the roles of heredity
and environment in exact numerical terms. Various methods have been developed to cope with
this problem, especially among experimental plants and animals. In humans, twin studies are
generally undertaken suing identified twins, fraternal twins, and non-twin siblings reared apart and
together.
Identical twins, who are alike genetically, are subjected to the same intrauterine
environment. Fraternal twins, who are not genetically identical, are also subjected to the same
intrauterine environment. Presumably the difference between these two kinds of twin is only in
the extent of their genetic similarity. If phenotypic similarities are greater among identical twins
than among fraternal twins, such may be ascribed to the similar genotypes of the identical twins
and dissimilar genotypes of the fraternal twins. On the other hand, if phenotypes are the same for
both identical and fraternal twins, the environmental influence is greater than the genotypic
influence.
One of the ways to measure similarities and differences is to determine whether the
character is present or absent in one or both members. If both members show the character is
present or absent in one or both members. If both members shows the character, the pair is
concordant (table 3-4). If only one member of a pair shows the trait, then the p[air is
phenotypically dissimilar or discordant. The extent of concordance of the twins may be used to
measure the roles of the environment and heredity in the expression of a certain phenotype. If
the trait has high concordance in the identical twins and quite low concordance in the fraternal
twins, then the trait may be considered to have a strong hereditary element. More equal
concordance and discordance ratios between the identical and fraternal groups would, in turn,
signify less hereditary influence and more environmental influence on the expression of a certain
trait.
The interpretation of concordance data must be done with caution because environmental
effects on some characters may be subtle.
However, these concordance data emphasize the important roles of both heredity and
environment in many human traits.
Table 3-4. Genetic concordance among identical and fraternal twins.
 TRAIT % CONCORDANCE REMARKS
Identical Fraternal
Twin Twins
1 Age of sitting up 82 76 Environmental
2 Age of walking 68 31 Especially age
3 Hair color 89 22
4 Eye color 99.6 28 Basically genetic with high
5 Diabetes mellitus 65 18 degree of penetrance and
6 Rickets 88 22 differential expressivitty
7 Feeblemindedness 94 47
8 Schizophrenia 80 13
9 Blood pressure 63 36 Basically genetic with
10 Criminality 68 28 environmental influence
11 Pulse rate 56 34
12 Paralytic polio 36 66
13 Stomach cancer 27 4 Minimal genetic influence
14 Mammary cancer 6 4
15 Uterine cancer 6 0
16 Measles 95 87
17 Smoking habit 91 65 Largely environmental
18 Alcohol drinking 100 86 influence
19 Coffee drinking 94 79
20 Mongolism 89 7 Chromosomal aberration
.
M. Probability and Statistical Testing

The determination of genetic ratios is derived essentially from two basic laws of probability.
a) When the probability of an event is independent of that of another events, so that
the occurrence of one does not interfere with the occurrence of the other, the probability that both
events occur together is the product of their separate probabilities or ½ x ½ = 1/4. For example,
if two pairs of contrasting traits are inherited independently to predict the frequencies of the F 2
phenotype, we apply the product law of probabilities. The combined probability of the two
outcomes is equal to the product of their individual probabilities.

RrYy x RrYy
If we take each gene pair independently, then
Rr x Rr = IRR: 2Rr: 1rr
¾ round: ¼ wrinkled
Yy x Yy = 1 YY: 2Yy: 1yy
¾ yellow: ¼ green
¾ round ¾ yellow (3/4)(3/4) = 9/16
¼ green (3/4) (1/4) = 3/16

¼ wrinkled ¾ yellow (1/4)(3/4) = 3/16

¼ green (1/4)(1/4) = 1/16

b) When two events are mutually exclusive, the probability that an individual will have one of
these characteristics is equal to the sum of their probabilities, or ½ + ½ = 1. Probability of getting
either A or a: ½ (A) + ½ (a) = 2/2 or 1.

1. Level of Significance
In testing genetic ratios, one finds that the observe ratios are different to larger or lesser
extent from the expected. This is due to the fact that each sample in the population is subject
sampling errors- chance deviation from the expected values. In deciding whether to accept or
reject a hypothesis, the size of the discrepancy between the observed and expected ratios must
be evaluated. One should decide how large a discrepancy can be permitted before he suspects
that something other than chance alone is involved in deviations observed. This is more difficult
question because any answer must be arbitrary.
Statisticians, in general accept these reasonable standards of evaluation of chances. If
the deviation can be shown to occur more often than once in 20 trials, the observation are
conventionally accepted as satisfactory fit to the expected.
1.1 If the chance is less than 1/20 (0.05), the deviation is regarded as significant, i.e.,
something other than chance is suspected to be operating.
1.2 If the probability is less than 1/100 (0.01), the deviation is highly significant it is
considered very unlikely that the difference between the observed and the expected is due to
chance alone.
The level of significance provides the probability basis upon which a hypothesis may
be rejected. However, this does not prove that the hypothesis is right or wrong.
2. The Chi-square Test
The statistical test most commonly used in gene segregation is the chi-square test. The
formulas is:
X2= Ʃ Di2
e
Where d = deviation of the observed from expected value (e)

If the expected hypothesis is true, chi-square values have certain probabilities of

occurrence, depending on the degrees of freedom in the experimental. Based on such
calculations, the probability table has been constructed and this relates the degrees of freedom
with the probability that particular groups of chi-square values will be found.
The chi-square test can be applied to samples including two or more classes. The
number of classes upon which X2 value is based must be considered in evaluating its significance.
This refers to the degrees of freedom, which one less than the number of classes (df= n-1).
 There are certain limitations in the use of chi- square tests.
2.1. The chi-square test can usually be applied only to numerical frequencies themselves,
not to percentages or ratios derived from the frequencies.
2.2. The chi-square test cannot properly be applied to distributions in which the frequency
of any class is less than 5.
3. Binomial Distributions
Another type of problem in genetics is the probability that a certain combination can be
described by the binomial coefficient for this combination relative to the total number of possible
combinations.
If p is the probability of the genotype or phenotype and q or 1-p is the probability of the
alternative genotype or phenotype, so that p + q = 1, the probability of each combination in which
a succession of such events may occur is described by the binomial distribution. The formula to
calculate the probability for any special combination of genotype or phenotype, without regard to
order of their appearance, is:
𝑛!
. p w qx
𝑤!𝑥!

When n- total number of progeny (sibship size)

w- Number of progeny with genotype or phenotype p
x- Number of progeny with the genotype of phenotype q
For example, in a sibship of eight children, the probability that five will be boys and three, girls
8!
is: (1/2) 5 . (1/2)3
5!3!

= 8.7.6.5.4.3.2.1 x (1/32) (1/8)

5.4.3.2.1.3.2.1
= 8.7.6.5.4.3.2.1 x (1/32) (1/8)
5.4.3.2.1.3.2.1
= 56.1/32. 1/8 = 56/256= 7/32
Or among 32 families of eight children each, seven will have five boys and three girls.
4. Normal distribution
An important feature of the binomial distribution is that as the number of individuals in the
group increases, and A and a remain the same, a bell-shaped curve or normal
distribution curve can be drawn for frequencies of the different combinations. This curve
is high in the center, representing the higher frequencies for the most common
combinations; it tapers off equally at both extremes for the rarer combinations.

nAa naa
Figure 3-3. Distribution when the number of offspring per sibship becomes very large, e.g., n