Principals of Inheritance and Variation

Inheritance is the process by which characters are passed on from

parent to progeny(basis of heredity).
Variation is the degree by which progeny differ from their parents
In 8000-1000 B.C. humans identified variation in sexual reproduction.
Selected desirable traits in wild plant and animal populations through
selective breeding.Example-Sahiwal cows in Punjab

Mendel’s Laws of Inheritence

Gregor Mendel conducted 7-year hybridization experiments (1856-

1863) on garden peas, introducing laws of inheritance with pioneering
use of statistical analysis and mathematical logic in biology.
True breeding line-exhibits stable trait inheritance and expression
through continuous self-pollination across multiple generations.
Mendel selected 14 true-breeding
pea plant varieties, as pairs which
were similar except for one
character with contrasting traits

Inheritance of one Gene

Mandal’s collected seeds from the cross

Grew them to produce F1 hybrid plants
All F1 progeny were tall, resembling one
parent
No dwarfs observed
Similar pattern for other trait pairs
Mendel self-pollinated tall F1 plants and
observed a surprising result in the F2
generation.
In F2, 1/4th of the plants
were dwarf, a trait
absent in F1, while 3/4th
were tall.
Traits didn't blend;
offspring were distinctly
either tall or dwarf, with
no intermediate height.

Mendel's Observations:
Proposed stable transmission of traits from parent to offspring
Identified these as 'factors,' now known as genes
Genes are the units of inheritance containing trait information
Alleles are different forms of the same gene, coding for contrasting
traits
Alphabetical symbols represent genes, with capital letters denoting
the expressed trait at the F1 stage and lowercase for the other trait
(e.g., T for Tall, t for dwarf).
Alleles for height in plants can be TT, Tt, or tt, where T and t are
alleles of each other.
In true-breeding varieties, the allelic pair for height is homozygous,
TT for tall and tt for dwarf, while alleles can be similar as in the
case of homozygotes TT and tt or can be dissimilar as in the case of
the heterozygote Tt
Genotype (TT or tt) defines the plant's genetic makeup, while
phenotype (tall or dwarf) describes its observable traits.
If a plant has a genotype Tt, the phenotype would be a combination
of both traits
Mendel observed that the F1 heterozygote (Tt) resembles the TT
parent, suggesting dominance of one factor (T) over the recessive
factor (t).
Tt plant is heterozygous for genes controlling one character (height),
it is a monohybrid and the cross between TT and tt is a monohybrid
cross.

Punnett Square :
Developed by British geneticist
Reginald C. Punnett.
Diagram illustrating gamete
production, zygote formation, and
F1 and F2 plant outcomes.
Graphical representation for
calculating offspring genotypes in
a genetic cross.
Possible gametes written on top row
and left columns.
All combinations depicted in boxes
below, creating a square output
form.
Mendel conducted a test cross by crossing a tall F2 plant with a
dwarf plant.
In a test cross, an organism with a dominant phenotype is crossed
with the recessive parent.
This method helps determine the genotype of the test organism.
Figure above illustrates the results of a test cross, where violet (W)
dominates over white (w) flower color.

Mendel's observations on monohybrid crosses led to the formulation

of two foundational laws of inheritance:
First Law (Law of Dominance)
Second Law (Law of Segregation)

Law of Dominance

(i) Characters are controlled by discrete units called factors.

(ii) Factors occur in pairs.
(iii) In a dissimilar pair of factors one member of the pair dominates
(dominant) the other (recessive).
Explains single parental character expression in F1.
Accounts for both parental characters in F2.
Clarifies the 3:1 ratio observed in F2.
 Law of Segregation
Alleles do not blend; they remain distinct.
Both characters are recovered unchanged in the F2 generation.
One character may not be visible at the F1 stage.
Factors or alleles segregate during gamete formation.
Each gamete receives only one of the two factors.
Homozygous parents produce identical gametes.
Heterozygous parents produce two kinds of gametes, each with one
allele in equal proportion.
Incomplete Dominance
The dog flower's (snapdragon) color
inheritance illustrates incomplete
dominance.
In a cross of red (RR) and white
(rr) flowers, F1 (Rr) was pink.
Self-pollination of F1 resulted in an
unexpected 1 Red (RR) : 2 Pink (Rr)
: 1 White (rr) ratio.
R was not completely dominant
over r, allowing distinction between
Rr (pink), RR (red), and rr (white).

Antirrhinum sp.
Concept of dominance
Genes hold the key, as they carry information for expressing traits.
In diploid organisms, genes exist as allele pairs, and heterozygotes
may have non-identical alleles.
Allelic changes can occur, modifying the information within,
affecting traits
 Enzyme Production Example:
Genes for enzyme production can have two allelic forms.
Normal allele produces a needed enzyme for substrate
transformation.
Modified allele may result in:
Normal/less efficient enzyme,
Non-functional enzyme, or
No enzyme production.
Equivalent alleles are common, producing the same phenotype.
Non-functional or absent enzyme due to a modified allele results in
a recessive trait.
Dominance lies in the unmodified allele, representing the original
phenotype

Co-dominance

••In co-dominance, the F1 generation shows traits from both parents.

•Example: ABO blood grouping in humans, controlled by gene I.
•Gene I has three alleles: I A, I B, and i.
•I A and I B produce slightly different sugars, while i does not produce
any.
•Individuals possess any two of the three I gene alleles.
•I A and I B are completely dominant over i.
•When I A and i are present, only I A expresses; when I B and i are
present, only I B expresses.
•I A and I B together express both types of sugars, showcasing co-
dominance.
•Red blood cells have both A and B sugars.
•With three alleles, there are six possible genotypic combinations for
ABO blood types.
•ABO blood grouping exemplifies multiple alleles with three governing
the same trait, showcasing genetic diversity in populations.
 Pleiotrophy
One gene can have multiple effects; for instance, a single gene
controls starch synthesis in pea seeds.
Alleles B and b regulate starch synthesis, with B B homozygotes
producing large starch grains, while b b homozygotes produce smaller
grains.
Heterozygotes (Bb) have round seeds, showcasing incomplete
dominance as the starch grains are of intermediate size.
Dominance is not solely determined by a gene; it relies on the gene
product, the resulting phenotype, and the chosen phenotype for
examination.

Inheritance of Two Genes

Mendel crossed pea plants with different traits, like yellow and
round seeds versus green and wrinkled seeds.
The results showed dominance of yellow color over green and round
shape over wrinkled.
Using genotypic symbols (Y for yellow, y for green, R for round, r for
wrinkled), the parent plants were RRYY and rryy.
The F1 hybrid was RrYy, and self-hybridization of F1 plants revealed
a 3:1 segregation for both color and seed shape in the F2 generation,
mirroring monohybrid crosses.
 Results of a dihybrid
cross where the two
parents differed in two
pairs of contrasting
traits: seed colour and
seed shape

Law of Independent Assortment

In the dihybrid cross (Above digram), phenotypes (round, yellow;
wrinkled, yellow; round, green; wrinkled, green) appear in a 9:3:3:1
ratio, observed in several pairs studied by Mendel.
This ratio results from a combination series of 3 yellow: 1 green and
3 round: 1 wrinkled, expressed as (3 Round: 1 Wrinkled) (3 Yellow: 1
Green).
Mendel's Law of Independent Assortment proposes that in hybrids,
segregation of one pair of traits is independent of the other pair.
The Punnett square illustrates independent segregation during
meiosis in F1 RrYy plants, generating four genotypes of gametes (RY,
Ry, rY, ry) each with a 25% frequency.
 Chromosomal Theory of Inheritance
Mendel's groundbreaking work on character inheritance, published
in 1865, went unrecognized until 1900 due to challenges in
communication and resistance to his innovative ideas.
(i) Communication difficulties hindered widespread publicity of
Mendel's work.
(ii) Contemporaries rejected Mendel's concept of genes as stable
units controlling traits and the non-blending pair of alleles, as
well as his use of mathematics in biology.
(iii) Mendel couldn't provide physical proof for the existence and
composition of genes.
In 1900, scientists (de Vries, Correns, and von Tschermak)
independently rediscovered Mendel's results, coinciding with
advancements in microscopy and the identification of chromosomes
during cell division
This led to the discovery of structures in the nucleus that appeared
to double and divide just before each cell division. These were called
chromosomes (colored bodies, as they were visualised by staining
1902: Chromosome movement during meiosis elucidated.
Walter Sutton and Theodore Boveri correlated chromosome behavior
with genes.
Used chromosome movement to elucidate Mendel's laws
Alleles of a gene pair are on homologous sites on homologous
chromosomes.
Study of chromosome behavior during mitosis (equational division)
and meiosis (reduction division).

Meiosis and germ cell

formation in a cell
with four chromosomes
During Anaphase of meiosis I, the two chromosome pairs can align at
the metaphase plate independently of each other
Left column (Possibility I): Orange and green segregate together
Right column (Possibility II): Orange chromosome segregates with red
chromosomes

Sutton and Boveri argued that the pairing and separation of a pair
of chromosomes would lead to the segregation of a pair of factors
they carried. Sutton united the knowledge of chromosomal
segregation with Mendelian principles and called it the chromosomal
theory of inheritance.
Synthesis of ideas preceded experimental verification of the
chromosomal theory of inheritance by Thomas Hunt Morgan and
colleagues.
Thomas Hunt Morgan conducted experiments with Drosophila
melanogaster, a type of fruit fly, to investigate the basis for
variation in sexual reproduction.
Drosophila melanogaster was chosen for its suitability in laboratory
studies
Reason to choose this species-
As it could be grown on a simple synthetic medium.
•The fruit flies had a short life cycle of about two weeks, and a
single mating could yield a significant number of offspring.
Clear differentiation of sexes in
Drosophila melanogaster
facilitated the study, as male
and female flies were easily
distinguishable.
Drosophila melanogaster
exhibited various hereditary
variations, observable with low-
power microscopes.

Linkage and Recombination

Morgan's Drosophila experiments: Studied sex-linked genes via

dihybrid crosses, akin to Mendel's pea experiments.
Example cross: Yellow-bodied, white-eyed females x brown-bodied,
red-eyed males; F1 progeny intercrossed.
Observation: Genes didn't segregate independently; F2 ratio
significantly deviated from 9:3:3:1 ratio
Gene location: X chromosome; realization of linkage when genes were
on the same chromosome.
Morgan's terms: Coined "linkage" for gene physical association on a
chromosome; "recombination" for non-parental gene combinations.
Linkage observations: Some genes tightly linked (low recombination),
others loosely linked (high recombination).
Example: White and yellow tightly linked (1.3% recombination); white
and miniature wing loosely linked (37.2% recombination).
Sturtevant's contribution: Used recombination frequency to map
gene positions on chromosomes.
Impact: Genetic maps essential for genome sequencing, e.g., Human
Genome Sequencing Project
 POLYGENIC INHERITANCE

Mendel's studies focused on traits with distinct alternate forms, like

flower color (purple or white).
Many traits aren't so distinct; they occur across a gradient,
controlled by three or more genes, termed polygenic traits.
Polygenic inheritance considers both genetic and environmental
influences, seen in traits like human skin color.
In polygenic traits, phenotype reflects the additive effect of each
allele.
Example: Skin color controlled by genes A, B, C; dominant forms (A, B,
C) result in dark skin, recessive forms (a, b, c) in light skin.
Genotype AABBCC yields darkest skin, aabbcc yields lightest, and
mixtures produce intermediate shades.
The proportion of dominant and recessive alleles in the genotype
determines skin color intensity.

PLEIOTROPY

Gene effect on single phenotype

Pleiotropic gene: single gene, multiple phenotypic expression
Mechanism: gene affects metabolic pathways, leading to various
phenotypes
Example: phenylketonuria (PKU) in humans
Mutation in gene for enzyme phenylalanine hydroxylase
Phenotypic expression: mental retardation, reduced hair and skin
pigmentation
 SEX DETERMINATION

Sex determination mechanism was initially puzzling to geneticists.

Early experiments in insects provided clues to genetic/chromosomal
mechanism.
Henking (1891) observed a specific nuclear structure (X body) during
spermatogenesis.
50% of sperm received the X body, while the other 50% did not.
The X body was later identified as a chromosome, leading to the
term X-chromosome.
In many insects, sex determination is of the XO type, with females
having an additional X-chromosome.
Fertilization by sperm with X-chromosome leads to female offspring,
while those without lead to males.
This results in unequal chromosome numbers between males and
females.
X-chromosome is designated as the sex chromosome; others are
autosomes.
Grasshoppers exemplify XO sex determination: males have one X-
chromosome, females have a pair

SEX DETERMINATION

Male heterogamety Female heterogamety

ZW type
XO type XY type Example-Birds
Example- Grasshopper Example- Man
Male heterogamety-denotes the sex of a species wherein an
individual's gametes possess dissimilar sex chromosomes. In humans,
the heterogametic sex is male, where each gamete's sex chromosomes
are X and Y
Female heterogametry-Two different types of gametes in terms of
the sex chromosomes, are produced by females.In order to have a
distinction with the mechanism of sex determination described
earlier, the two different sex chromosomes of a female bird has been
designated to be the Z and W chromosomes. In these organisms the
females have one Z and one W chromosome, whereas males have a
pair of Z-chromosomes besides the autosomes

Determination of sex by chromosomal differences: (a,b) Both in

humans and in Drosophila, the female has a pair of XX
chromosomes (homogametic) and the male XY (heterogametic)
composition; (c) In many birds, female has a pair of dissimilar
chromosomes ZW and male two similar ZZ chromosomes
 Sex Determination in Humans
Humans have an XY sex determining mechanism.
22 pairs of chromosomes are autosomes, identical in males and
females.
Females have a pair of X chromosomes, while males have one X and
one Y chromosome.
During spermatogenesis in males, two types of gametes are produced:
those with an X chromosome and those with a Y chromosome.
Females produce only one type of ovum with an X chromosome.
Equal probability of fertilization exists between ovum and sperm
carrying either X or Y chromosome.
Fertilization with X-carrying sperm results in a female (XX), while Y-
carrying sperm results in a male offspring.
Genetic makeup of sperm determines the sex of the child.
Each pregnancy has a 50% probability of either a male or female
child.
In society, women are unfairly blamed and mistreated for giving
birth to female children

Sex Determination in Honey Bee

Sex determination in honey bees is based on chromosome sets

received.
Offspring from fertilized eggs develop as females (queen or worker).
Unfertilized eggs develop as males (drones) through parthenogenesis.
Males have half the chromosome number of females.
Females are diploid with 32 chromosomes, while males are haploid
with 16 chromosomes.
Known as haplodiploid sex determination system.
Unique features include males producing sperm through mitosis.
Males do not have fathers or sons but have grandfathers and
grandsons.
 MUTATION

Mutation: Alteration of DNA sequences leading to changes in

genotype and phenotype.
Mutation leads to variation in DNA along with recombination.
Loss (deletions) or gain (insertion/duplication) of DNA segments
alters chromosomes, leading to abnormalities.
Chromosomal aberrations are common in cancer cells.
Point mutation: Change in a single base pair of DNA (e.g., sickle cell
anemia).
Deletions and insertions of base pairs cause frame-shift mutations.
Mechanism of mutation not discussed here; induced by chemical
and physical factors called mutagens.
UV radiation is a mutagen, causing mutations in organisms

GENETIC DISORDERS

Pedigree Analysis
Disorders believed to be
inherited have long been
prevalent in society.
This belief stemmed from
observing certain traits
passed down through families.
Rediscovery of Mendel's work
led to the analysis of
inheritance patterns in
humans.
Unlike controlled crosses in
organisms like pea plants,
human inheritance is studied
through family history.
 Pedigree analysis involves tracing traits through several generations
of a family.
It is a strong tool in human genetics for understanding inheritance
of traits, abnormalities, or diseases.
Pedigree analysis uses family trees to represent inheritance patterns.
DNA carries genetic information and is transmitted from
generation to generation without alteration.
Occasionally, changes in DNA occur, known as mutations.
Many human disorders are associated with inherited changes or
mutations in genes or chromosomes.

Mendelian Disorders
Genetic disorders categorized into Mendelian disorders and
Chromosomal disorders.
Mendelian disorders result from alterations or mutations in single
genes.
Transmission of Mendelian disorders follows principles of inheritance.
Pedigree analysis can trace patterns of inheritance in families.
Common Mendelian disorders include Haemophilia, Cystic fibrosis,
Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalassemia,
etc.
Mendelian disorders can be dominant or recessive, determined by
pedigree analysis.
Some traits may be linked to sex chromosomes, like haemophilia.
X-linked recessive traits transmit from carrier females to male
progeny

(a) (b)
Representative pedigree analysis of (a) Autosomal dominant trait (for
example: Myotonic dystrophy) (b) Autosomal recessive trait (for
example: Sickle-cell anaemia)
 Colour Blidness
It is a sex-linked recessive disorder due to defect in either red or
green cone of eye resulting in failure to discriminate between red
and green colour. This defect is due to mutation in certain genes
present in the X chromosome. It occurs in about 8 per cent of males
and only about 0.4 per cent of females. This is because the genes
that lead to red-green colour blindness are on the X chromosome.
Males have only one X chromosome and females have two. The son
of a woman who carries the gene has a 50 per cent chance of being
colour blind. The mother is not herself colour blind because the gene
is recessive. That means that its effect is suppressed by her
matching dominant normal gene. A daughter will not normally be
colour blind, unless her mother is a carrier and her father is colour
blind.

Haemophilia
Sex-linked recessive disease
Transmission from unaffected carrier female to some male progeny
Affects a single protein in the clotting cascade
Results in non-stop bleeding from simple cuts
Heterozygous female (carrier) can transmit the disease to sons
Rare for females to become haemophilic; requires carrier mother
and haemophilic father
Family pedigree of Queen Victoria shows haemophilic descendants
Sickle-cell anaemia
Autosomal-linked recessive trait
Transmission from carrier parents (heterozygous)
Controlled by alleles HbA and HbS
Homozygous for HbS show diseased phenotype
Heterozygous individuals are carriers
50% probability of transmission to offspring
Sickle-cell trait in carriers
Mutation: Glutamic acid (Glu) to Valine (Val) at sixth position of
beta globin chain
Single base substitution: GAG to GUG at sixth codon of beta globin
gene
Mutant hemoglobin polymerization under low oxygen tension
RBC shape changes from biconcave disc to elongated sickle-like
structure

Micrograph of the red blood cells and the amino acid composition of
the relevant portion of β-chain of haemoglobin: (a) From a normal
individual; (b) From an individual with sickle-cell anaemia

Phenylketonuria
This inborn error of metabolism is also inherited as the autosomal
recessive trait.
The affected individual lacks an enzyme that converts the amino
acid phenylalanine into tyrosine.
As a result of this phenylalanine is accumulated and converted into
phenylpyruvic acid and other derivatives.
Accumulation of these in brain results in mental retardation. These
are also excreted through urine because of its poor absorption by
kidney.

Thalassemia
Autosome-linked recessive blood disease.
Transmission: From unaffected carriers to offspring (heterozygous
parents).
Cause: Mutation or deletion leading to reduced synthesis of α and
β globin chains of hemoglobin.
Result: Formation of abnormal hemoglobin molecules causing
characteristic anemia.
Classification: Based on affected globin chain - α Thalassemia (α
globin chain affected) and β Thalassemia (β globin chain
affected).
α Thalassemia: Genes HBA1 and HBA2 on chromosome 16, mutation
or deletion of one or more genes reduces alpha globin production.
β Thalassemia: Gene HBB on chromosome 11, mutation of one or
both genes.
Difference from sickle-cell anemia: Thalassemia is a quantitative
problem (too few globin molecules), while sickle-cell anemia is
qualitative (incorrectly functioning globin)

Chromosomal Disorders
Chromosomal disorders result from absence, excess, or abnormal
arrangement of chromosomes.
Failure of chromatid segregation during cell division leads to
aneuploidy, where there is a gain or loss of chromosomes.
Down's syndrome is an example of aneuploidy, characterized by an
extra copy of chromosome 21.
Turner's syndrome occurs due to the loss of an X chromosome in
human females.
Polyploidy occurs when there is a failure of cytokinesis after the
telophase stage, resulting in an increase in a whole set of
chromosomes.
Polyploidy is commonly observed in plants.
Total chromosomes in a normal human cell: 46 (23 pairs)
22 pairs are autosomes, 1 pair is sex chromosome
Rarely, additional or missing chromosome may occur
Trisomy: additional copy of chromosome
Monosomy: lacking one chromosome of a pair
Result: serious consequences for individual
Examples: Down’s syndrome, Turner’s syndrome, Klinefelter’s
syndrome

Down's Syndrome
Genetic disorder caused by extra copy of chromosome 21 (trisomy 21)
First described by Langdon Down in 1866
Characteristics: Short stature, small round head, furrowed tongue,
partially open mouth
Broad palm with characteristic palm crease
Developmental delays in physical, psychomotor, and mental aspects

A representative figure showing an individual

inflicted with Down’s syndrome and the
corresponding chromosomes of the individual
 Down’s Syndrome
Genetic disorder: Extra copy of chromosome 21 (trisomy of 21).
Described by Langdon Down in 1866.
Characteristics of affected individual:
1. Short stature.
2. Small round head.
3. Furrowed tongue.
4. Partially open mouth.
Broad palm with characteristic palm crease.
Developmental delays:
1. Physical.
2. Psychomotor.
3. Mental

Klinefelter’s Syndrome
Genetic disorder
Caused by an additional X chromosome (47, XXY)
Overall masculine development
Expresses feminine development (Gynaecomastia)
Individuals are sterile

Turner's Syndrome
Disorder due to absence of one X
chromosome (45,X0).
Females affected are sterile due to
rudimentary ovaries.
Lack of secondary sexual characters.
Chromosomal abnormality causes
infertility.
Notable for lack of development in
ovaries and secondary sexual
characteristics
Diagrammatic representation of genetic disorders
due to sex chromosome composition in humans :
(a) Klinefelter Syndrome; (b) Turner’s Syndrome
 FAQs
Q-Explain the Law of Dominance using a monohybrid cross.
Ans-Mendel proposed three principles of inheritance:
Principle of Dominance
Principle of Segregation
Principle of Independent Assortment The Principle of
Dominance, demonstrated through monohybrid crosses, states
that "when purebred parents with contrasting traits are crossed,
only the dominant trait appears in the offspring's phenotype.
The hybrid offspring will display the dominant trait." This
principle is recognized as the first law of inheritance. It
elucidates that each trait is controlled by paired units called
alleles. In heterozygous pairs, one allele consistently dominates
the other. In a monohybrid cross between a tall (TT) and a
dwarf (tt) parent, Mendel's Principle of Dominance is observed.
The F1 generation follows a ratio of 3:1, indicating that all four
plants are tall. There are no dwarf plants in the F1 generation
because the dominant allele 'T' overrides the recessive allele 't,'
responsible for dwarfness. These offspring are hybrids expressing
only the dominant trait, while the trait from the other parent,
dwarfness, remains unexpressed

NOTE: Worksheet (Important questions

of all typology with answers) is provided
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