GENETICS

= Genetics is thus the science concerned with precise

understanding of biological properties transferred from parents to
offspring.
= Genetics is also the analysis of the physico-chemical properties
of the hereditary determinants that bridge the gap between one
generation of individuals and the next.
= Geneticists through experimentation and study have established
certain rules that characterize the transmission of biological
heredity and the mechanisms of hereditary transmission.
= Geneticist are also concerned with finding out how transmitted
hereditary “materials” from a generation to another is translated
into the various characteristics that define the similarities and
differences among living things. 1
= Thus the science of genetics is important in
that it leads to a profound understanding of the
world of living things.
= Heredity is the study of how genetic
information is transmitted from parents to
offspring.
= law of heredity states that it is the offspring
that has the tendency to possess characteristics
similar to its parents.
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the law of variation states that the offspring has
the tendency to be different from its ancestors
and from one another.
= These laws account for the differences that exist
between members of the same family and
individuals of the same species. These similarities
and variations can be transmitted from one
generation to another.
= Variation in copy number, rather than single
nucleotide changes or other simple mutations have
been postulated to be responsible for genetic
conditions. 3
= Developmental defects are caused by
chromosomal deletions. On the overall, an
individual’s characteristics’ are due to the
interaction of two major factors - heredity and
environment.
= environmental factors includes chemical, physical
and biological factors in the surroundings of an
individual that influences his or her characteristics.

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 Developmental Genetics
= involves study of how the genes control
growth and development of an organism during
its life-cycle. A fertilised egg cell or zygote
contains collection of genes that controls its
development into an embryo by the process of
embryogenesis through patterns of differential
gene expression.
= Three processes are involves in creating an
organism from a single cell namely:

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= Cell division
= Cell differentiation
= Morphogenesis
= The cell division is through mitosis,
= cell differentiation is by gene activation and inactivation
= morphogenesis involves cell division, differentiation and
cell death.
= pattern of cell division and cell death (apoptosis) are
controlled by genes involved in cell differentiation from an
original totipotent state (that is ability to make all cell
types) through a pluripotent state (ability in making some
cells types such as stem cells) to specific cell types or
lineages.
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 Current Trends in Genetics
1. Use of Bacteria in Industry and in the Health Sector
2. Gene Therapy
3. Genetic Finger Printing
4. Gene Screening
5. Genetic Engineering
6. Cloning
7. Test-Tube Fertilization and Implantation
8. Ribonucleic acid interference (RNAi)
a. HIV:.
b. Hepatitis viruses

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 CHROMOSOMES AND GENES
- The physical and functional unit of heredity is the gene. It
is situated in the chromosome and it transmits a
character or trait from a parent to the offspring. The
gene is a segment of the DNA containing instructions for
protein production.
- DNA is packed tightly in structures called chromosomes,
consisting of long chains of DNA made of a specific
sequence of nucleotides at a given position and
associated proteins.
- The total length of DNA in the nucleus of each cell is
approximately 1.8m.
- The Gene consists of three types of nucleotide sequence:
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= The chromosomes are passed down from parent cells
to daughter cells by mitosis or meiosis.
= There are 46 chromosomes, consisting of 22 pairs of
autosomes and a pair of sex chromosomes, that is two
X sex chromosomes for females (XX) and an X and Y sex
chromosome for males (XY)
= in humans. A member of each pair comes from the
mother through the egg cell while the other pair is from
the father through the sperm cell.
= Chromosomes are arranged in homologous pairs of
which each pair comes from the maternal set while the
other is from the paternal set.
= homologous pair arrangement of the chromosomes is
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called a karyotype.
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 Types of chromosomes
1. Prokaryote chromosome
• The word prokaryote mean ‘before nucleus’ and
it refers to the Eubacteria and Archaea that lack
discrete nucleus. The prokaryotic chromosomes
are not enclosed by any membrane.
2. Eukaryote chromosomes
• The word eukaryote was obtained from Greek,
meaning 'true nucleus' and it includes every
organism except viruses, Eubacteria and Archaea.
The eukaryotes have a nucleus and membrane-
bound cell organelles. 11
 EVIDENCE OF DNA AS THE GENIC SUBSTANCE
1. DNA is largely restricted to the chromosomes
(protein and RNA are most abundant in the cytoplasm) as
evidenced by cytological staining of chromosome, such as
using the Feulgen reagent.

2. Quantitative measurements of the amount of DNA in

cells show correlation between amount of DNA and
number of chromosome sets. Thus the amount of DNA in
a haploid cell is half of the amount present in diploid cell
of the same species. In other words, the composition of
the DNA (that is the relative amounts of the four
nucleotides) is constant for a given organism in all types of
cells, but varies from one species to another.
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• - exons, which is the coding regions that
specifies the sequence of amino acids
• - introns which is the non-coding regions
that do not specify amino acids and
• - regulatory sequences, that plays a role
in determining where and when protein is
made, and the quantity made

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 Lethal genes
= Some genes called lethal genes, cause
abnormal development that ultimately results in
the death of the individual inheriting them. For
example, if the lethal genes cause abnormal
heart development, an embryo might die about
the 4th week, when its heart normally begins to
function.
= If the lethal genes cause abnormal
development of the kidneys, death might not
occur until birth, when the newborn must
function without the aid of its mother’s organs.
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 NUCLEIC ACIDS
= two kinds namely
1. Deoxyribonucleic acid (DNA) and
2. Ribonucleic acid (RNA)

= Both are made-up of similar subunits known as nucleotide.

= A nucleotide is composed of three simpler compounds linked together
namely; phosphoric acid, a sugar and a nitrogen-containing ring compound.
= The sugar component in DNA is deoxyribose while it is ribose in the RNA.
= The nitrogenous ring containing compounds are four compounds,
- two are of the class purines, and
= the other two of a class called pyrimidines.
= Adenine(A) and guanine (G) are the purines in DNA,
= cytosine (C) and thymine (T) are the pyrimidines.
= RNA has the pyrimidine uracil (U) instead of thymine.
= a nucleotide is a compound containing phosphoric acid, ribose 15(or
deoxyribose), and either a purine or a pyrimidine.
= the nucleotide are hooked together end-to-end
making the linkage sugar-phosphate-sugar-
phosphate
= purines and pyrimidines attaches as side groups
to the sugar molecules.
= Only four different kinds of subunits make up a
nucleic acid molecule as compared to the 20
different kinds of amino found in some proteins.

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DEOXYRIBONUCLEIC ACID (DNA)

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• The molecule carrying genetic information in all
life forms including some viruses is the DNA,
which are poly nucleotides (long chains of
nucleotides). The nucleotide consists of three
components namely a:
• i. nitrogenous base made up of cytosine (C),
guanine (G), adenine (A) or thymine (T)
• ii. five-carbon sugar
• iii. Phosphate molecule

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= Proteins are organized in three structural levels
a. The Primary structure is the sequence of amino
acids in the polypeptide chain.
b. The Secondary structure is the spatial orientation
of amino acids relative to one another. The portion or
length of the polypeptide chain that is coiled is known
as the alpha helix.
c. The Tertiary structure is the overall structure of
the protein and is the way in which the polypeptide
chains are held together. The whole structure is folded
and super folded e.g. hemoglobin. DNA is coiled into
chromosomes due to interaction between DNA
molecules and water, and these are tightly packed in 19
= Nitrogenous bases are hydrophobic and are
held together by hydrogen bonds and makes up
the steps of the twisted staircase.
= sugar and phosphate molecules forms the
sugar-phosphate backbone and are hydrophilic.
= Adenine is bonded with thymine (A-T) and
guanine pairs with cytosine (G-C).
= DNA is arranged so that the phosphate and the
sugar backbone are on the outside and in
contact with fluid, while the nitrogenous bases
are in the inner portion of the molecule.
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 THE NATURE OF THE DNA MOLECULE
= The breakthrough or discovery of how DNA works
as the hereditary blueprint came with the detailed
exposition of the DNA molecule by Watson, Crick and
Wilkins. Even though relative quantity of the four
nucleotides in DNA
= varies from specie to specie, one rule always holds:
the quantity of adenine equals the quantity of
thymine and the quantity of cytosine equals the
quantity of guanine (Chargaff's rule). Thus what
varies from specie to specie is the ratio: A+T
G+C
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= From DNA studies using X-rays diffraction, Crick
and Watson proposed the model for DNA structure.
In this model, the DNA molecule is made up of two
polynucleotide chains that is anti-parallel to one
another and coiled together in an intertwining spiral
or helix. Hydrogen bond holds the two strands
partly together between the base pairs of the
opposite chain.
= Adenine is always opposite from and paired with
thymine, while cytosine pairs with guanine.
= The phosphate-sugar backbone forms the outsides
of the helix and the bases are tucked inside it.
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= DNA as a chromosome component carries the
genetic information and this is the blueprint for
all heritable characteristics of the cell.
= The genetic message is encoded as the
sequence of purine and pyrimidine bases in the
nucleotide chains.
= The gene carries genetic information in code
consisting of Adenine, Thymine, Guanine and
Cytosine.
= The backbone of the polynucleotide is a chain
of sugar and phosphate molecules.
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= ability of DNA in storing and transmitting
information lies in the fact that it consists of two
polynucleotide strands that twist around each other
forming a double-stranded helix.
= The bases link across the two strands in a specific
manner using hydrogen bonds:
- cytosine (C) pairs with guanine (G), and
- adenine (A) pairs with thymine (T).

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= The structure explains some properties of the
molecule
= molecule can be copied or 'replicated', as each
strand can act as a template for generation of a
complementary strand.
= the molecule can also store information in the
linear sequence of the nucleotides along each
strand.

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26
= order of the base along a single strand
constitutes the genetic code.
= four-letter 'alphabet' of A, T, G and C forms
three letter ‘word’ called codon
= Individual codons code for specific amino
acids.
= a DNA strand consist of a 'start' and 'stop'
codons, and regulatory elements specifying
sequence of amino acids linking together to
form a protein.

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 Table 2 : Codon code for serine and threonine
A G C A C C

Serine Threonine

It should be noted that the genetic code is:

i. universal in that all life forms on the earth
uses the same code (with very few exceptions).
ii. degenerative in that each amino acid can
be coded for by more than one codon. For
example, both AGC and ACC code for the amino
acid, serine. A codon table sets out how the
triplet codons code for specific amino acids.
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 Why DNA Molecule is Twisted

in order to reduce space between the nitrogenous

bases, phosphate and sugar strands so as to prevent
the nitrogenous bases from coming into contact
with the fluid of the cell. The two strands of DNA
forming double helix are anti-parallel making
twisting of the molecule possible. To ensure the
strands are tightly fitted together, the DNA strands
runs in opposite ways, i.e anti-parallel thus reducing
the potential of the fluid leaking out between the
bases.
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 DNA Can Exist On Its Own As:

1. One strand can serve as a template for

repair of the other strand if it is broken
2. The genetic code is protected from
damage as it is in a double-stranded molecule.
3. Enzymatic attacks on the DNA is prevented
by the proteins surrounding it thus conferring
protection.

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 DNA Methylation

= replacement of the hydrogen in cytosine by a

methyl group causes methylation of cytosine
leading to covalent modification of DNA.
= human and most animal’s genes have large
amounts of methylated cytosine residue in their
genome
= these are known as CpG islands
= methylation is used to silence DNA.

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 functions of DNA methylation
a. homologous recombination suppression
between repeats
b. the inactivation of the X- chromosome
c. silencing of transcriptional gene
d. stability of the genome
e. making the chromatin compact
f. defense of the genome

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 RIBONUCLEIC ACID (RNA)
= The ribonucleic acid (RNA) is a single stranded
nucleic acid made of nucleotides produced in the
nucleus of cells and found also in the cytoplasm.
RNA nucleotides contain three components:
- Nitrogenous Base
- Five-Carbon Sugar
- Phosphate Group

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34
= joining of nucleotide polymers by covalent bonds
between phosphate of one nucleotide with the
sugar of another make up the RNA molecules.
= linkages are called phosphodiester linkages.
= RNA molecule has the ability to fold and as it
occurs
= it makes the nitrogenous bases to bind one
another such that adenine pairs with uracil (A-U)
and guanine pairing with cytosine (G-C).

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 Importance of RNA
- protein synthesis
- involved in transcription
- decoding
- translation in protein production.

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 Types of Ribonucleic Acid (RNA)
three types:
1. Messenger Ribonucleic Acid (mRNA)
= plays a role in DNA transcription during which transcription
factors unwind the DNA strand making RNA polymerase to
transcribe a single strand of DNA.
2. Transfer Ribonucleic Acid (tRNA)
= translates message in the mRNA nucleotide sequences to
specific amino acid sequences to help form protein.
3. Ribosomal Ribonucleic Acid (rRNA)
= are ribosomal proteins that create peptide bonds in amino acids
within the polypeptide chain.
= The ribosomes are synthesized by the nucleolus.
= Ribosomes have a smaller binding site for mRNA and another
two binding sites for tRNA within the larger ribosomal subunit. 37
ASSIGNMENT : Differentiate between DNA and
RNA

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Micro Ribonucleic Acids (MicroRNA’s or miRNA’s)

= are small regulatory RNA with the ability

of gene expression regulation through inhibition
by halting translation after binding to specific
location on the mRNA
= this is to prevent the molecule from being
translated
= microRNAs are linked to chromosome
mutation through a process, translocation
= it has been implicated in some cancers
development
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 Unusual DNA

Apart from DNA double helix, other types of

branched DNA are:
a. quadruplet DNA triple strands
b. arsenic substitutes for phosphorus

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 Unusual RNA
There are:
a. Double stranded RNA (dsRNA) is similar to
DNA found in some viruses, where thymine is
replaced by uracil
- infection of eukaryotic cells by viruses leads to
this dsRNA interfering with the normal RNA
function causing interferon response
stimulation
b. Circular b-strand RNA (circRNA) found in
plants and animals
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 MUTATION
- is said to be a sudden variations or abrupt changes in
chromosomes that brings about somatic changes
which breeds true and expresses themselves in
future generations
= changes are known as mutations
= a product of mutation is a mutant and is a variant that
arise suddenly breeding true such as albinism and
abnormal haemoglobin (HbS and HbC)
= mutation do occur with changes in the
nucleotide sequence of a DNA strand due to random
mistakes in DNA replication or to environmental
influences such as chemicals or ultra violet (UV) rays 42
= the changes influences transcription and
translation from gene to protein expression
= change in one nitrogen base in a sequence can
alter the amino acid expressed by that DNA codon
resulting in a completely different protein being
expressed from a completely a harmless to a fatal
one
= thus the changes influences transcription and
translation from gene to protein expression

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= thus mutation causes a change in gene
expression leading to adaptations that may help a
specie or affect it negatively
= these changes results in non-functioning
proteins
= this alteration of the nucleotide sequence that
affects a single nucleotide pair or larger segments
of a chromosome is known as gene mutation

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 Results of Mutations

1. Disease(s)
2. Benefit to the individual
3. Negative impact on the individual
4. Unique traits such as dimples, freckles and
multicolored eyes.

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 CAUSES OF MUTATION
These are:
i. Changes in the chromosomes affecting a
number of genes
ii. Irradiations by x-rays, cosmic rays from space
and high velocity electrons of β-rays. This can induce
mutation.
iii. Temperature and light intensity changes
iv. Application of chemical or mutagenic chemicals
such as herbicides
v. v. Errors occurring during cell division by
mitosis or meiosis
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 Types of mutation

1. Point / Synonymous Mutations

2. Non-synonymous / Frameshift Mutations

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 Examples of DNA Mutations

a. Duplication
b. Insertions
c. Deletion
d. Translocation
e. Inversion

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 MEDICAL GENETICS AND COUNSELING

= contact between genetics and medicine is that

some impairment of normal human functions that
falls into the category of ‘disease’ are inheritable
characters
= such conditions departs from the normal and
includes colour blindness, albinism, polydactyly, or
more serious ones such as heamophilia, sickle-cell
anaemia or galactoseamia

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= these departures represent observations in
the genetic apparatus
= they are difficult to treat successfully
= the need to answer various questions that
arises from these observations
knowledge of genetics is applied in the field of
medicine to eliminate or reduce the incidences
of genetic diseases
= the knowledge helps the medical practitioner
to make forecast or prognoses that can be
utilized for the benefit of the patient
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= this provision of information on probability of
genetic disorders transmission from parents to
offspring is known as genetic counseling
= a genetic counselor could be a medical or non-
medical professional
= genetic counseling also
*- involves talking to parents of children with
genetic disorders about the prognosis and
possible treatment of the disorder
*- predicting the possible outcome of mating
involving carriers of harmful gene and
*- giving counsel concerning available options
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= genetic counselor acts as a patient advocator
= genetic counselor also acts as a genetic resource to physicians
= they provide information and support to families having
members with birth defects or genetic disorders,
= they provide information and support to families that may be
at risk of a variety of inherited conditions
= accuracy of their prediction depends on:
- correct diagnosis of the genetics of the disorder
- understanding the pattern through which a
disorder is inherited and
- knowledge of the parents genotypes
- determination of how a particular trait is transmitted
within a particular family
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= genetic counselor must be concern with:
1. psychological effect a prediction may have on
the individual(s) concerned
2. probability of the genetic defect occurring
again
3. probability of desirable traits appearing in an
offspring that could compensate for the possible
defect
4. being objective and avoid imposing a
particular set of values upon a prospective
parent as the final decision is that of the parents
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= For some conditions, the counselling may rely
heavily on pedigree patterns
= some condition can be detected by performing
biochemical analysis of cells and blood taken from
the parents in order to identify products of
abnormal recessive alleles that may be present
= some forms of hereditary disease carriers are
detected out on the basis of “brain wave” pattern
revealed by electroencephalography (EEG)
= information on the genetic condition of
developing fetus can be obtained by testing fetal
cells (prenatal diagnosis) byusing the procedure
called amniocentesis 54
 Modification of classic Mendelian Ratio
Two main principles of Mendelian genetics
- Mendel's laws (principles) of segregation
- Mendel's laws (principles) of independent assortment
- both are explained by the physical behavior of chromosomes during
meiosis

Exceptions of Mendelian laws

- Linkage contradicts the law of segregation and crossing over leads to
formation of more variations which cannot be described by Mendelian
genetic laws

What is a classical Mendelian ratio?

- This is the 1:1:1:1 phenotypic ratio
- is the classic Mendelian ratio for a test cross in which the alleles of the
two genes assort independently into gametes (BbEe × bbee) 55
 Importance of Mendelian ratio
The Mendelian ratios, in which paired diploid genes
segregate into haploid gametes and the gametes of
different individuals then combine at random,
is the basis of all the theory of population genetics
Three exceptions to the Mendelian pattern
• Law of co-dominance,
• Law of incomplete dominance
• Pleiotropy

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 Modifications to Mendel's classic ratios

= Modification of Mendel's principles developed

as knowledge of the chromosomes increased;
many discoveries have helped to account for
apparent deviations from Mendelian ratios.

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 Modifiers in genetics
- Genetic modifiers are genetic variants that can
modify the phenotypic outcome of the primary
disease-causing variant
- They can increase (known as an enhancer) or
decrease (known as a suppressor) the severity of
the disease condition but may not be disease-
causing themselves
Some variations on Mendelian inheritance
- are five basic modes of inheritance for single-gene
diseases: autosomal dominant, autosomal
recessive, X-linked dominant, X-linked recessive,
and mitochondrial 58
 Applications of genetic modification

- medicine,
- genetic engineering
- used to mass-produce insulin, human growth
hormones, follistim (for treating infertility),
human albumin, monoclonal antibodies,
antihemophilic factors, vaccines, and many
other drugs

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The advantages and disadvantages of genetic
modification
• GMO foods are designed to be healthier and
cheaper to produce.
• Advantages of GMO foods include added
nutrients, fewer pesticides, and cheaper
prices.
• Disadvantages of GMO foods can be allergic
reactions or increased antibiotic resistance

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 Problems with genetic modification
- specific engineered organisms may be
harmful by virtue of the novel gene
combinations they possess.
- No one knows with certainty how these new
life forms will behave in the future, so the
limited risk assessments conducted to date
are poor predictors of the safety of GMOs
over the long term.

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 Potential Harms to Human Health
- New Allergens in the Food Supply
- Antibiotic Resistance
- Production of New Toxins
- Concentration of Toxic Metals
- Enhancement of the Environment for Toxic Fungi
- Unknown Harms
- Gene Transfer to Wild or Weedy Relatives
- Change in Herbicide Use Patterns

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 Plant examples of genetic engineering
• Pesticide-Resistant Rapeseed Plants. Rapeseed is a
flowering plant used to make certain types of vegetable
oil
• Plants That Fight Pollution
• Golden Rice
• Faster-Growing Trees
• Bigger, Longer-Lasting Tomatoes
• Insecticide Corn
• Non-Crying Onions
• Cloning

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