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GENERAL BIOLOGY I BIO101

LECTURE

GENETICS
BY
DR. BINTA MUHAMMAD AMINU
 GENETICS
• Genetics: Branch of science that deals with
Genes, Heredity and variation in living organisms.
• It is the study of genes
• Heredity: It means the transmission of features/
characters/ traits from one generation to the next
generation.
• Variation: The differences among the individuals
of a species/ population are called variations.
 HERITABLE AND NON HERITABLE
TRAITS
Heritable Characters/Traits
• These are characters or traits that are displayed by an organism as the
result of expression of gene or group of genes and their interaction with
environment.

• Heritable traits are defined by their ability to be passed from one

generation to the next through genetic inheritance. These traits are
determined by the genetic makeup of an individual (DNA) which is passed
on from parents to their offspring.

• Visible or otherwise measurable properties of heritable traits are called

phenotypes, while the genetic factors responsible for creating the
phenotypes are called genotypes. These traits can include physical traits
(eye colour, skin colour, height, flower colour, seed colour, seed shape,
etc.) and certain genetic disorders or predispositions to certain diseases
(diabetes, breast cancer, syndromes, etc.).
 HERITABLE AND NON HERITABLE
TRAITS
Non-Heritable Characters
• These characters are usually associated with
learned behaviors.
• They are acquired characters as a result of
environmental interactions, experiences or
lifestyle choices, as such are not genetically
passed from parents to offspring e.g. scars,
athletic ability, music ability, muscle
development, tattoos, left handedness,
language proficiency, etc.
 MENDEL AND HIS WORK ON
INHERITANCE
Mendel’s Laws of Heredity
• Gregor Johann Mendel (1822-1844) is known as the
father of genetics as he was the first to demonstrate
the mechanism of transmission of characters from
one generation to the other.
• He carried out his work on garden pea, Pisum
sativum.
• He selected 7 pairs of contrasting traits of garden
peas.
• Mendel’s gave three laws or principles of
inheritance.
 Mendel's laws
Mendel’s gave three laws or principles of inheritance.
1. Law of dominance: States that in heterozygous condition
among two alleles of a character the alleles which
expresses itself is dominant and the one which can’t
express is recessive.

2. Law of segregation: During gamete formation the two

alleles for each gene segregate from each other, so that each
gamete carries only one allele for each gene.

3. Law of Independent assortment: Genes for different traits

are inherited independently of each other during gamete
formation, as long as they are located on different
chromosomes
 Definition of terms
• Gene: This is a unit of chromosomal material which determines a
particular character. Genes are located in the chromosomes.
• Allele: This is an alternative form of a gene (i.e one member of a
pair that is located at a specific position on a specific
chromosome).
• Locus: This refers to the position of an allele within a DNA
Molecule.
• Homozygous: This is a diploid condition in which the alleles at a
given locus are identical, example RR, and rr.

• Heterozygous: This is a diploid condition in which the alleles at a

given locus are not identical, example Rr and rR.
• Dominant: This is the allele which influences the appearance of
the phenotype even in the presence of an alternative allele (i.e it
masks the other) allele of the pair. E.g in pea plant, the allele for
round seed shape, R, is always dominant over the allele for
wrinkled seed shape, r.
 Definition of terms
• Recessive: This is the allele which influences the
appearance of the phenotype only in the presence of
an identical allele (i.e in homozygous condition). E.g in
pea plants wrinkled seed shape is only expressed when
the both alleles are, rr.
• Genotype: The total genetic constitution of a cell
which may or may not be expressed physically.
• Phenotype: This refers to the observable physical
characteristics of an organism. It is determined by the
interaction of the genotype of an individual and the
environment in which development occurs.
 Genetics terms
Hybrid: Offspring produced when pure strains interbreed.
• It carries genes from both parents. The parents differ in at least one
characteristic.
• the term is usually used of offspring of widely different varieties or species.
Hybrids between different animal species are usually sterile, as is the mule
(a cross between a horse and donkey).
F1 generation: The generation produced by crossing homozygous parental
stocks.
F2 generation: The generation produced by crossing two FI organisms.
• Male and female individuals that produce gametes form the parent (P)
generation; their offspring form the first filial (F1) generation; the sexual
union or mating is referred to as a cross (x).
• When F1 individuals are crossed the resulting / next generation, i.e. the
second filial generation is represented as F2. Example - see diagram
Parents T T X tt

Tt Tt Tt Tt …………………….F1offspring

F1 Parents T t X Tt

TT Tt Tt tt ……………….F2 offspring
• The genotype of an F1organism, produced by the
breeding of homozygous dominant (e.g. TT) and
homozygous recessive (e.g. tt) parents is
heterozygous but shows the dominant
phenotype.
• An organism displaying the recessive phenotype
must have a genotype which is homozygous for
the recessive allele.
• In the case of F2 organisms showing the
dominant phenotype the genotype may be
either homozygous or heterozygous.
 Test cross
• A test cross involves mating an unknown genotypic individual with a
known homozygous recessive
• This is because recessive alleles will always be masked by the presence
of dominant alleles
• Hence the phenotype of any offspring will reflect the genotype of the
unknown parent
• in the tiny fruit fly called Drosophila, long wing is dominant to vestigial
wings (i.e. wings that have diminished in size). The genotype of a long
wing Drosophila may be homozygous (LL), or heterozygous (Ll).
• to establish the correct genotype the fly is test crossed with a double
recessive (ll) vestigial wing fly. If the testcross offspring are all long wing
the unknown genotype is homozygous dominant (i.e. LL). A ratio of one
long wing to one vestigial wing indicates that the unknown is
heterozygous long wing (i.e. Ll).
 Test cross
Parents LL X I I

Ll Ll Ll Ll

OR

Parents Ll X II

Ll Ll ll ll
 INCOMPLETE DOMINANCE
• Incomplete dominance results from a cross in which each parental
contribution is genetically unique and gives rise to progeny whose
phenotype is intermediate.
• Incomplete dominance is also referred to as semi-dominance and
partial dominance.
• An individual who is heterozygous for a gene has two different
alleles, but it is not always sufficient to produce an intermediate
phenotype.
• Some genotypes that cause disease if both alleles are recessive
show no phenotype as heterozygotes.
• But, if each parent contributes the mutated form of the gene, the
resulting child will be homozygous, recessive, and sick.
• Other diseases manifest as a phenotype that is intermediate to the
parents. Incomplete dominance can also result from the effect of
one gene that masks the phenotype of another. Many color
pathways are complicated due to these epistatic interactions.
 INCOMPLETE DOMINANCE

• A mutant allele is said to show ‘incomplete

dominance’ or ‘semidominance’ when its
phenotypic effects as a heterozygote are distinctly
dominant but less severe than when homozygous.
• For example, for a hypothetical locus b affecting
hair growth, bb homozygotes have normal hair, Bb
heterozygotes show partial baldness, while all BB
homozygotes are completely bald; the B allele
shows incomplete dominance since the
heterozygous phenotype is less severe than that of
BB homozygotes. In most cases, the phenotype of
heterozygotes is intermediate relative to the wild-
type and the homozygous states.
 Linkage
 Linkage refers to the tendency of certain genes to be inherited together
because they are located near each other on the same chromosome.
• Genes situated on the same chromosome are said to be Linked.
• All genes on a single chromosome form a linkage group and usually pass
into the same gamete and are inherited together.
• As a result of this, genes belonging to the same linkage group usually do
not show Independent assortment.
Sex Linkage ( Sex- Linked Characters)
• Sex linkage is the phenotypic expression of an allele that is dependent on
the gender of the individual and is directly tied to the sex chromosomes.
• In such cases there is a homogametic sex and a heterogametic sex.
• In mammals the homogametic sex is female (XX) and the heterogametic
sex is male (XY), thus the sex linked genes are carried on the X
chromosome.
• In birds and in some insects the homogametic sex is male. In regards to
ducks, a drake has ZZ chromosomes, with females ZW, sex-linked any
recessive sex-linked genes are at least in part on the Z chromosome, and
"male" and "female" are exchanged for humans.
• Examples of such sex-linked traits are red-green colour blindness,
premature balding and haemophilia.
 Sex linked

XNXN XNXn Female

homozygous heterozygous
XNY OR XnY Male
NB/ A male may have only N or n but not both.
This special form of linkage explains the inheritance of sex-linked traits
associated with males, which are as a result of recessive genes.
The following possible genotypes and phenotype can occur:
 SEX LINKED
• Genotype Phenotype
• XHXH normal female
• XHXh normal female (carrier)
• XhXh haemophiliac female
• XH Y normal male
• XhY haemophiliac male
• -H is the dominant allele for the formation of factor VIII, for normal
blood clotting;
• -h is the recessive allele on the X-Chromosome for haemophilia.
• Thus, a male will be haemophiliac if the X-chromosome bears the
recessive allele for the haemophilia (XhY).
• A female who is heterozygous for haemophilia (XHXh) will be normal (i.e.
no haemophilia) since she is carrying the normal (dominant) allele
which masks the haemophilic (recessive) allele, but will be a carrier for
haemophilia. Only a female who is homozygous for the recessive allele
(XhXh) will be haemophiliac.
• In all sex-linked traits, females that are heterozygous are described as
carriers.
 Monohybrid Cross
 This is a crossing involving only one pair of contrasting character.
 Mendel started his work using a pair of contrasted character in
the garden pea.
 He first of all considered green plant and yellow plant as
parents. Assuming that the allele for green colour is Y and that
for yellow colour is y, then the crossing can be illustrated as
follows:

• Parental phenotypes: Homozygous green plant × Homozygous

yellow plant
• Parental genotypes (2n), (Meiosis): YY ×
yy
• Gametes (n), (Random fertilization): YY,
yy
• From the above crossing, First Filial generation, F1 genotype (2n)
will all be Yy (heterozygous offspring)
 Monohybrid

Parent gametes: Y Y × y y The F2 generation will be the crossing of two of the heterozygous offspring/hybrids from the F1
generation, which is as follows:
Test cross
Parental genotypes (2n), (Meiosis): Yy × Yy
Gametes (n), (Random fertilization): Yy, Yy

F1 Generation (Offspring) Yy Yy Yy Yy
Punnett Square Method Punnett Square Method
Gametes y y Gametes Y y
Y Yy Yy Y YY Yy
Y Yy Yy yY yy
y
 Dihybrid Cross
• Mendel’s success in predicting the outcome of breed crossing involving a
single pair of contrasting characters inspired him to extend his work to the
inheritance of two pairs of contrasting characters.
• In one of his experiments, he used pea seed shape and pea seed colour. He
crossed a homozygous pea plant having round and green seed with a
homozygous pea plant having wrinkled and yellow seed. This type of
crossing that involves two allelomorphic characters (i.e. two pairs of
contrasting characters) is termed as the Dihybrid cross.
• Assuming that the allele for round seed is ‘R’ and that for wrinkled seed is
‘r’ and maintaining similar assumptions for the seed colour (Y for green and
y for yellow) as in the Monohybrid cross, the cross can be illustrated as
follows:
• Parental phenotypes: Round and green seed × Wrinkled and yellow seed
• Parental genotypes (2n), (Meiosis): YYRR × yyrr
• Gametes(n), (Random fertilization): YR (round green), Yr (green wrinkled),
Ry (round yellow), yr (wrinkled yellow)
 Dihybrid cross
Punnett Square Test Cross
Gametes YR Yr Ry yr
YR YYRRª YYRrª YRRyª YRyrª
Yr YYRrª YYrrb YRyrª Yyrrb
Ry YRRyª YRyrª RRyyc Ryyrc
yr YRyrª Yyrrb Ryyrc yyrrd

F1 generation resulted in 16 Offspring/hybrids presented as

follows:
a - round green seed = 9
b - wrinkled green seed = 3
c - round yellow seed = 3
d - wrinkled yellow seed = 1 (in a ratio of 9:3:3:1)
 VARIATION
• Differences that exist among individuals of the same species
• It can be observed in terms of traits such as morphology, behaviour, physiology and
genetics
• Variation can be influenced by genetic factors, environmental factors, or a combination
of both

• Any difference between individual organisms or groups of organisms of any species,

caused either by genetic difference or by the effect of environmental factors, is called
variation.
• Variation can be shown in physical appearance, metabolism, behavior, learning and
mental ability, and other obvious characters.
Types of Variation
• There are two types of variation:
• Genotypic variations:- Genotypic variations are caused by differences in the number or
structure of chromosomes or by difference in the genes carried by the chromosome.
Height, eye colour, body forms are some of the genotypic variations. A variation cannot
be identified as genotypic by simply observing the organism unless breeding
experiments are performed under controlled environmental conditions.
• Somatic variations: - Somatic variations may result from several factors, such as climate,
food supply, and actions of other organisms. These variations are not due to differences
in genes or chromosomes, and in general are not transmitted to future generations.
Hence they are not significance in the process of evolution.
 CONTINUOUS AND DISCONTINOUS
Continuous
VARIATION
• Range of differences in a characteristics that can take any value within the
population
• They are usually influenced by multiple genes and environmental factors
• Height, weight and skin color in humans
• It results in bell shaped distribution curve when plotted(normal
distribution)
Discontinuous
• The distinct categories or classes that a characteristics falls into within
population
• These variations are typically controlled by one or a few genes with distinct
alleles
• Blood groups in humans (A, B , AB and O), Seed shape in pea plants, eye
color, finger prints , ability to roll tongue, ability to test phenyl
thiocarbamide (PTC)
• Each category can be represented distinctly in bar graph or histogram