GENETICS

INTRODUCTION

Genetic is the study of heredity and variation in living organisms. Because genes are integral to
the explanation of hereditary observations, genetics also can be defined as the study of genes.
Heredity is the sum of all biological processes by which particular characteristics are transmitted
from parents to their offspring. The concept of heredity therefore include the constancy of
a species from generation to generation and the variation among individuals within a species.
Constancy and variation are actually two sides of the same coin, as becomes clear in the study
of genetics. Both aspects of heredity can be explained by genes, which is the functional units of
heritable material that are found within all living cells. Every member of a species has a set of
genes specific to that species. It is this set of genes that provides the constancy of the species.
Among individuals within a species, however, variations can occur in the form each gene takes,
providing the genetic basis for the fact that no two individuals (except identical twins) have
exactly the same traits.

The set of genes that an offspring inherits from both parents i.e a combination of the genetic
material of each, is called the organism’s genotype. The genotype is contrasted to the phenotype,
which is the organism’s outward appearance and the developmental outcome of its genes. The
phenotype includes an organism’s bodily structures, physiological processes, and behaviors.
Although the genotype determines the broad limits of the features of an organism however, an
organism can develop the features that actually develop, i.e., the phenotype, depend on complex
interactions between genes and their environment. The genotype remains constant throughout an
organism’s lifetime; however, because the organism’s internal and external environments change
continuously, so does its phenotype.

HISTORICAL BACKGROUND OF GENETICS

The science of genetics originated in 1900 with rediscovery of scientific article originally
published in 1886 by an Augustinian Monk called Gregor Mendel. It dates back to primitive
agriculture who thousands of years ago I ancient Centre of civilization, domesticated the various
plants and animals we use till this day. The knowledge genetics has been in use in prehistoric
plants and animal breeders, but they were not vaguely aware of the principles of genetics.
Perhaps genetics form the basis of domestication of plants and animals by man.

INHERITANCE SPECULATION IN GENETICS

Several speculation and theories have been forwarded by some philosophers, thinkers and some
workers to explain the phenomenon of inheritance which include among others the following.

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1. Vapour and fluids theories

This is the speculation that the information of parents existed in the form vapour of fluids that
descended from the brain, nerves and other parts of the body organ of male during coitus and
from this vapour was made an embryo was formed in the uterus of female. Some argued that it is
only the male that transmitted all the characters of embryo and the female does not. On the
contrary others argued that thought that both parents contribute equally to the embryo and each
parents produces a ‘semen’ from various body parts.

Others believe that male semen is formed in numerous parts of the body in the form of ‘humour’
but is transported through the blood vessels to testicles and the active ‘humour’ act as the bearer
of hereditary traits and are drawn from various parts of the body to the semen. In this way new
born could inherit traits their parents had acquired from the environment.

Some philosophers like Aristole proposed that male semen is formed from blood but its
generative power resides in a ‘vital heat’ it contain. That ‘vital heat’ has the capacity to produce
offspring of the same from as the parents. He believed that male semen generate offspring by
cooking and sharping the menstrual blood produced by female.

2. Preformation theories

These group also believe that yes, the male and the female parents contribute equally to heredity
but strongly of the view that all animals arises from the eggs and that semen only plays
vitalizing the role. This group of people concluded that development of any organism consisted
simply of growth of preformed part. ie development of organisms is by simple enlargement of a
minute preformed individuals.

Branches of genetics

1. Plant Genetics: the study of genetics of plants

2. Animal Genetics: the study of genetics of animals.

3. Human Genetics: the study of heredity of human traits, disorders, betterments and correction
of human disorders.

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4. Microbial Genetics: the study of genetics of microorganisms such as viruses, bacteria,
protozoan and unicellular organisms.

6. Mycogenetics: the study of genetics of fungi

7. Drosophila Genetics: the study of genetics of fruit flies

8. Mendellian Genetics: the study of genetics of heredity of both Qualitative (monogenic) and
quantitative (polygenic) traits of influence. It include the study of mode of transmission of traits
from generation to generation

9. Morganian Genetics: the study of recombination (cross over) in all kinds of organisms. It also
involves the preparation of linkage maps of chromosomes.

10. Mutation Genetics: the study of heredity of both chromosome changes (structure and
numerical) and also gene mutation.

11. Cytogenetic: is the study of cytological explanations of different genetic principles

12. Molecular Genetics: the study of structure and functions of gene and regulation of its
activities

13. Clinical Genetics: study of genetics that involve the detection of causes of genetic diseases
such as haemophilia, albinism, colour blindness, diabetes, phenylketonuria etc.

14. Immunogenetics Genetics: the genetics of production of different types of antibodies.

15. Pharmacogenetics: deals with study of effect of genetic variations on response to drugs

16. Behavioural genetics: the study of the interactions of genes with the environment to produce
a particular pattern of behavior.

17. Ecological genetics: the study of ecological phenomena.

Application of Genetics
1. Improvement of existing human race by applying certain fundamental laws of heredity. For
example, eugenics which is the study of agencies under social control that may improve or
impair the racial qualities of future generations. It involve the practice or advocacy of improving
human species by selectively mating people with specific desirable hereditary traits which aim to
reduce human suffering by ‘’breeding out’’ disease, disabilities and so-called undesirable
characters from human population.

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2. Agriculture: Genetics has made valuable contribution in the improvement of food and
ornamental plants and domestic animals by applying selective breeding. E.g. development of
yields strain of crops and animals that are resistant to diseases, pest and environmental stress.
Also production of improved strains of crops that are fast growing in short season and advance
production of milk, egg and meat to meat to meet up with increasing human demands as the
population increase geometrically.

3. Medicinal science: application of genetics has led to the discovery of numerous disorder
diseases in human that are linked to either a single mutation or specific chromosomal
abnormalities. Example, genetic bases of sickle-cell anaemia, erythroblastosis fetalis, cystic
fibroses, haemophilia, colour blindness, Huntington’s disease, muscular dystrophy, Tay-sach’s
disease, Down syndrome and countless metabolic disorders.

4. The application of genetic engineering: the genetic knowledge of recombinant DNA

technology has had great effect on genetic research, particularly our ability to understand gene
expression and its regulations in both plants and animals. Currently, genetic engineering is
giving us new tools of economic importance and of value in medical and agricultural practiced.
Several types of interferon, human growth hormone, and human insulin are some products of
genetic engineering that are now available for human use.

5. Legality contribution: Genetics is helpful in solving various legal problems with ease that
ordinary will be very difficult if not impossible to resolve. Example, disputed parentage can be
resolved by an analysis of blood types or inherited characteristics. DNA fingerprinting has
greatly helped in solving the criminal identity cases where DNA print is specific in terracing
suspected criminals.

6. Production of edible vaccines via transgenic plants. When foreign genes are inserted into the
plant genome, transgenic plants are created that produce the foreign gene products. The
transgenic plants now carry the edible vaccine for some intestinal diseases such as cholera,
diarrhea etc.

Some Common Terms Used in Genetics

Haploid: an individual or cell having a single complete set of chromosomes
Diploid: an individual or cell having a two complete set of chromosomes
Allomorphs: Pair of gene responsible a pair of contrasting characters
Homozygous: an individual is said to be homozygous if the two members of a pair of genes
controlling a given pair of contrasting character are identical
Heterozygous: an individual is said to be heterozygous if the two members of a pair of genes
controlling a given pair of contrasting character are different.
Hybrid: an individual resulting from a cross between two genetically different parents.
Monohybrid cross: the cross between two parents that differ in only one heritable character

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Dihybrid: the cross between two parents that differ in two contrasting heritable characters.
Dominant gene: is the character that expresses itself phenotypically in the presence of other
contrasting gene. ie its effects in the hybrid is masked by other contrasting genes.
Recessive gene: the character which does not produce its effects in the presence of a dominant
gene or allele
Genotype: is the term used to describe the total sum of genes inherited from both parents.
Phenotypes: the physically expressed traits.
Gametes: is a mature sex cell which takes part in sexual reproduction. It may be either the sperm
or egg cell. Each gamete contains a haploid number of chromosomes
Zygote: is a single cell formed as a result of union of a male and female sex gamete. Simply the
fertilized egg.

Heritable and non-heritable characteristics

Heritable Traits that can be passed on from your parents include the following among others:
tongue rolling, hair colour, eye color, hair texture, skin tone, blood group (A, B, AB, and O),
freckles, color blindness, dominant hand, and dimples.

Quantitative and Qualitative Inheritance

Quantitative inheritance is an inheritance of a character that depends upon the cumulative action
of many genes, each of which produces only a small effect. Examples of such quantitative
characters include spore production in ferns plants, height of trees, and nectar production in
buttercups. Other Examples of quantitative inheritance include: Height, weight, skin colour,
intelligence, colour blindness, kinefelter’s syndrome, alkaptonuria etc. A quantitative inheritance
is a function of polygenes whereby the progeny show a combined results of different alleles in
the physical character of progeny.
Characteristics of quantitative traits
Continuous: e.g. height, weight, intelligence, etc.
Discrete: e.g. fertile/sterile, diseased/normal, number of eggs, etc.
Despite the discrete character the trait is determined by an underlying continuous distribution.

Qualitative inheritance
Qualitative trait is a trait that can be described as a category. It is an inheritance of a character
that differed markedly in its expression among individuals of a species. Variation in that species
is discontinuous. Such characters are usually under the control of major genes. The major
difference between quantitative and qualitative inheritance is that while qualitative traits are
usually determined by single genes, quantitative traits tend to more complex and are usually
controlled by multiple genes. For example, black or red coat color, horned or polled coat color
dilution are all qualitative traits. Qualitative traits are frequently controlled by one or just a few
genes meaning they are simply inherited traits.

Probability and Test of Goodness of Fit.

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Refer to Monohybrid and dihybrid crosses and probability test using Chi square tests
Examples of Dominant and Recessive character transmission.
Plant Dominant allele Recessive allele
1. Pissum Tall Short
2. Nettle Serrated leaves Smooth margin leaves
3. Sunflower Branched habit Unbranched habit
4. Cotton Colored lint White lint
5. Wheat Susceptible to rust Resistant to rust
Animal
1. Cat Long hair Short hair
2. Cattle Hornless Horned
3. Horse Brown skin colour Red skin colour
4. Sheep White wool Black wool
5. Rabbit Brown hair coat White hair coat

Monohybrid cross: Example 1

Example 2

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Dihybrid cross examples

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F2 Generation

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Incomplete Dominance and Codominance

When a dominant allele does not mask completely the phenotypic expression of the recessive
allele in a heterozygote, the blending of both dominant and recessive traits takes place in the f1
and F2 heterozygotes. This phenomenon is known as incomplete dominance, or partial
dominance. In such cases, the blending occurs only in the phenotype of the F 1 heterozygote and
the allele maintain their individual identities and segregate from each other during
gametogenesis. The F2 progeny obtained from F1 will show phenotype and genotype ratio of
1:2:1

In some cases, however, the phenotype of a heterozygous organism can actually be a blend
between the phenotypes of its homozygous parents. Example, when Red coloured flower C RCR is
crossed with White colored flower CWCW in which allele for red is codominance to white, they
will produced all F1 to be pink CRCW

CODOMINANCE

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This a phenomenon in which both dominant and recessive alleles lack their dominant and
recessive relationships and both have capability to express them phenotypically in a
heterozygous condition is known as codominance.
Example, the allele governing the ABO blood group.
The ABO blood group is determined using the presence of antigen on the surface of the Red
Blood Cells (RBC). In one gene, there 3 different forms of alleles.
The determination is made by mixing the blood with antiserum solutions containing A and B
antibodies. The mixing and further clumping of blood cells are indicative of the presence of
antigen on the surface of RBC and one of the four phenotypes present in an individual.
An individual can have only A antigen, only B antigen, both A &B or neither of them.

Inheritance of A, B, AB and O blood group - an example of codominance

 In humans, there are 4 blood types (phenotypes): A, B, AB, and O

 Blood type is controlled by 3 alleles: IA, IB, IO (the base letter = I stands for
immunoglobulin)
 IO is recessive, two IO alleles must be present for the person to have type O blood

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  IA and IB are codominant but both are dominant to Io. If a person receives an IA allele
and a IB allele, their blood type is type AB, in which characteristics of both A and B
antigens are expressed.

Because IO is dominated by both IA and IB alleles, a person with blood group A could have the
genotype IA IO or IA IA. This has implication when having children because, if both parents
carry the IO allele, a child could be born with the genotype IOIO (blood group O), even though
neither of the parents have this phenotype.
DNA as Genetic Code.
DNA is a linear bio-molecule made up of four different types of nucleotide. DNA is the
molecule inside cells that contains the genetic information responsible for the development and
function of an organism. DNA molecules allow this information to be passed from one
generation to the next. It is a polymer composed of two polynucleotide chains that coil around
each other to form a double helix carrying genetic instructions for the development, functioning,
growth and reproduction of all known organisms and many viruses. DNA and RNA are nucleic
acid and are self-replicating bio-molecule that are present in nearly all living organisms as the
main constituent of chromosomes.

Functions of DNA:
-DNA now has three distinct functions genetics, immunological, and structural that are widely
disparate and variously dependent on the sugar phosphate backbone and the basses.
-DNA is the genetic material in most organisms.
-DNA controls the metabolic activities of the cell through protein synthesis.
-An error during DNA replication results in a change of genetic information or mutation.
-DNA along with protein histone forms the chromosome.

Chemical Structure of DNA:

DNA structure, showing the nucleotide bases called nitrogenous bases viz: Cytosine (C),
Thymine (T), Adenine (A), and Guanine (G) linked alternating phosphate (P) and deoxyribose
sugar groups popularly called pentose sugar. The sugar-phosphate chains are paired through
hydrogen bonds between A and T and between G and C, thus forming the twin-stranded double
helix of the DNA molecule. Each strand of a DNA molecule is composed of a long chain
of monomer nucleotides arranged in linear form. The nucleotides of DNA consist of
a deoxyribose sugar molecule to which is attached a phosphate group and one of four
nitrogenous bases consisting of two purines (adenine and guanine) and
two pyrimidines (cytosine and thymine). The nucleotides are joined together by covalent
bonds between the phosphate of one nucleotide and the sugar of the next, forming a phosphate-
sugar backbone from which the nitrogenous bases protrude.

Nucleotide:
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Nucleotides are the building blocks of Nucleic acid (DNA and RNA).
The raw materials for Nucleotides
1. The nitrogenous bases are of two types
i. The double rings Purines ii. The single rings pyrimidine
Purine are of two types (Adenine and Guanine). The pyrimidine are also of two types (Cytosine
and Thymine).
2. Pentose sugar (5C sugar).
Each of the carbon atom in the pentose sugar ring is linked to either H or OH.
If OH is linked to C number 2 and 3, then the molecule become ribose to form RNA. But if O 2
element is removed from C number 2 living only H, the molecule is deoxyribose to form DNA.
3. Fusion of sugar and nitrogenous bases.
If each of the nitrogenous base is fused to pentose sugar, it produce different type of nucleoside
depending on which type of the bases.
In essence Pentose sugar + nitrogenous base = Nucleoside.
Example.
Pentose sugar + Adenine base = Adenosine
Pentose sugar + Guanine base = Guanosine
Pentose sugar + Cytosine base = Cytodine
Pentose sugar + Thymine base = Thymidine
4. Convert of nucleoside to Nucleotides. How?
Add phosphate group to nucleoside at C5 of the pentose sugar ring of each of the nucleoside.
Addition of 1 phosphate will yield monophosphate, 2 diphosphate and 3 triphosphate.
Triphosphate is ATP generate cell energy and is the stable molecule needed to attain in cell.
For example, depending of number of phosphate added, give the following nucleotide.
Adenosine + phosphate = Adenosine mono or di or tri-phosphate
Guanosine + phosphate = Guanosine mono or di or tri-phosphate
Cytodine + phosphate = Cytodine mono or di or tri-phosphate
Thymidine + phosphate = Thymidine mono or di or tri-phosphate

DNA Replication
DNA replication is the process by which a double-stranded DNA molecule is copied to produce
two identical DNA molecules. In another word DNA replication is self-duplication of DNA
molecule. Replication is an essential process because, whenever a cell divides, the two new
daughter cells must contain the same genetic information as the parent cell.
Before a cell divides, it must first copy (or replicate) its entire genome so that each resulting
daughter cell ends up with its own complete genome.
Explain the following steps

HUMAN KARYOTYPE

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A karyotype is an individual’s complete set of chromosomes. A karyotype may be used to look
for abnormalities in chromosome numbers or structures.
Typical human karyotype contain 22 pairs of autosomal chromosomes and 1 pair of sex
chromosomes (allosomes). The most common karyotypes for females contain two X-
chromosomes and are denoted as XX while may has X&Y chromosomes and are denoted as XY.
Therefore, female has 46 XX while male has 46 XY.
There are six karyotype sexes that do not results in death to fetus and these are:
i. X – Roughly 1 in 2000 – 1in 5000 people (Turner’s syndrome)
ii. XX – most common form of female
iii. XXY - Roughly 1 in 500 – 1in 1000 people (Klinefelter syndrome)
iv. XY - most common form of male
v. XYY - Roughly 1 in 1000
vi. XXX- Roughly 1 in 1000

XXY – (male syndrome) characteristic’s

- Weak muscles, reduced strength and quite personalities.

- affect testicular growth, may cause testicles to be significantly smaller than normal testicles.
-can lead to lower production of testosterone hormone
- cause reduction in muscular mass
- reduced body and facial hair.
- enlarged breast tissue to look like female
- most men with these characteristics are infertile

XYY – (Superman) characteristics

Men with this syndrome may developed some behavioural problems such as:
-Attention deficit/ hyper activity disorder such as inattentive, impulsive temperament, autism or
defiant behavior
- Tempertantrum – emotional outburst, stubbornness, crying, screaming especially when
frustrated.
-in children, they tend to throw themselves on the floor when they do not get what they want or
the needed attention.

XXX – Trisomy (happen only in female) characteristic symptom

- Asymptomatic in majority
- Significantly taller than girls of their age
- usually results to wide-space eyes a condition referred to as hypertelorism
- bent little fingers - a condition referred to as clinodactyl
- development of poor muscle tone - a condition referred to as hypotonia
- in some cases may results to premature ovarian aging
- it may results to genito-urinary deformities.
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 - Some girls with triple X syndrome experience developmental delay, attention deficit
disorder, difficulty concentrating in school compare to normal girls with XX.

MUTATION
Mutation is a permanent, heritable change in the nucleotide sequence or the process by which
such a change occurs in a gene or in a chromosome. There are two major types of
mutations: small-scale and large scale. Small-scale mutations are genetic mutations, often in the
form of substitutions, deletions, and insertions of one or more nucleotides. Mutations occurring
in certain regions of chromosomes are large-scale mutations. This form of mutation can be lethal
or result in serious conditions or syndromes.

Small-scale
Small-scale mutations affect one or few nucleotides of a gene. These are further classified into
(1) substitution mutation, (2) insertion mutation, and (3) deletion mutation. Substitution
mutation is when a nucleotide is substituted with a different nucleotide. Examples of (base-pair)
substitutions are as follows:

 A purine is substituted with a different purine (A → G)

 A pyrimidine replaced by a different pyrimidine (C → T)
 A purine is substituted with a pyrimidine
 A pyrimidine is replaced by a purine

The first two examples are the types of transition (mutation). The last two are examples
of transversion. Substitution mutation is sometimes referred to as point mutation, i.e. when the
gene mutation involves only one nucleotide. Point mutations may further be classified based on
the impact on the resulting protein: (1) frameshift mutation, (2) nonsense mutation, (3) missense
mutation, (4) neutral mutations, and (5) silent mutation.

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Frameshift mutation is a type of gene mutation wherein the addition or deletion of (a number of)
nucleotide(s) causes a shift in the reading frame of the codons in the mRNA. This leads to the
alteration in the sequence of amino acids during protein translation.

Nonsense mutation is a form of mutation producing a nonsense codon. A nonsense codon, as

the name implies, does not code for an amino acid and it leads to a protein product that is early
truncated.

A missense mutation results in a codon that specifies for a different amino acid, and thus,
causes the synthesis of a protein with an altered amino acid sequence during translation.

A neutral mutation has no selective advantage or disadvantage.

A silent mutation is when the codon codes for the same amino acid and therefore produces
neither structural nor physiological change in the protein product.

Substitution – when one or more bases in the sequence is replaced by the same number of
bases (for example, a cytosine? substituted for an adenine

 Inversion – when a segment of a chromosome? is reversed end to end.

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Insertion – when a base is added to the sequence

 Deletion – when a base is deleted from the sequence.

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