5. PRINCIPLES OF INHERITANCE AND VARIATION 2.

Consider one as female parent & remove

anthers (emasculation) of plant to avoid
 Genetics deals with the inheritance and
self-pollination.
variation of characters from parents to
3. Collection of pollen grains from the other
offspring.
plant (male parent) and transferred to
 Inheritance is the process by which
female parent (pollination).
characters are passed on from parent to
4. Collection of seeds and production of
progeny. It is the basis of heredity.
offspring.
 Variation is the degree by which progeny
differ from their parents. MONOHYBRID CROSS

GREGOR MENDEL  Cross between plants differing in one trait.

Eg: Cross between tall and dwarf pea
 Father of genetics. plants.
 He conducted hybridisation experiments
on garden peas (Pisum sativum).

True breeding: Organism that shows stable trait

inheritance and expression for several
generations.
REASONS FOR SELECTING GARDEN PEA
 Short life cycle.
 Easy to cultivate.
 Easy hybridization.
 Bisexual flower.
 Clear contrasting characters.
 True breeding types are available.
REASON FOR MENDEL’S SUCCESS
 Phenotypic ratio= 3 Tall: 1 Dwarf= 3:1
 Use of statistical analysis and  Genotypic ratio= 1 TT: 2 Tt: 1tt= 1:2:1
mathematical logic.
BACK CROSS AND TEST CROSS
 Large sampling size.
 Backcross: Crossing of F1 hybrid with any of
7 CONTRASTING CHARACTERS
the parent.
Characters Dominant recessive
Stem height Tall Dwarf  Testcross: Crossing of an F1 hybrid with its
Flower colour Violet White recessive parent. Significance: It is used to
Flower Axial Terminal find out the unknown genotype.
position
Pod shape Inflated Constricted Procedure for test cross - The individual with
Pod colour Green Yellow unknown genotype is crossed with its recessive
Seed shape Round Wrinkled parent.
Seed colour Yellow Green
 If all the progeny are dominant, then the
unknown genotype is homozygous
STEPS IN MAKING A CROSS IN PEA
dominant.
1. Selection of 2 pea plants with contrasting  If half of the progeny are dominant and
characters. half recessive (1:1), then the unknown
genotype is heterozygous.
DIHYBRID CROSS pair segregate from each other such that a
gamete receives only one of the two
 Cross between plants differing in two
alleles.
traits.
3. LAW OF INDEPENDENT ASSORTMENT (Based
on dihybrid cross)

 When two pairs of traits are combined in a

hybrid, segregation of one pair of
characters is independent of the other pair
of characters.
NON-MENDELIAN INHERITANCE (Inheritance
which do not obey Mendelian laws)

1. INCOMPLETE DOMINANCE
 F1 did not resemble either of the two
parents and was in between the two.
 Both phenotypic and genotypic ratios are
same, 1:2:1.
 Eg: Flower colour in snapdragon
(Antirrhinum sp.)
 Flower colour in Mirabilis jalapa (4’O
clock plant).

 Phenotypic ratio= 9 Round yellow: 3

Round green: 3 Wrinkled yellow: 1
Wrinkled green= 9:3:3:1
 Genotypic ratio: 1:2:1:2:4:2:1:2:1
MENDEL’S LAWS OF INHERITANCE  Phenotypic ratio= 1 Red: 2 Pink: 1 White =
1:2:1
1. LAW OF DOMINANCE (Based on monohybrid
 Genotypic ratio= 1 (RR):2 (Rr):1(rr)= 1:2:1
cross)
2. CO-DOMINANCE
 Characters are controlled by discrete units
called factors.  F1 generation resembles both parents. Eg:
 Factors occur in pairs. ABO blood grouping in human.
 In a dissimilar pair of factors one member  Gene I controls ABO blood group.
of the pair dominates (dominant) the other  Gene I has three alleles IA, IB and i.
(recessive).  When IA and IB are present together
they both expresses. This is due to
2. LAW OF SEGREGATION (Based on monohybrid co-dominance.
cross)

 Though the parents contain two alleles

during gamete formation, the alleles of a
 REDISCOVERY OF MENDEL’S WORK

 de Vries, Correns & von Tschermak

independently rediscovered Mendel’s
results.
CHROMOSOMAL THEORY OF INHERITANCE
(1902)
o It was proposed by Waltor Sutton and
3. MULTIPLE ALLELISM Theodor Boveri.
o According to the theory, the genes are
 More than two, i.e., three alleles,
located on chromosomes. They later
controlling the same character Eg: ABO
segregate at the time of gamete formation.
blood grouping (3 alleles: IA, IB & i).
PROOF FOR CHROMOSOMAL THEORY
4. PLEIOTROPY
 Single gene may produce more than one  Proved by T.H Morgan.
effect. Such a gene is called pleiotropic  Experiment material: Fruit fly (Drosophila
gene. Eg: Starch synthesis in pea seeds, melanogaster).
sickle cell anaemia, phenylketonuria etc. REASONS FOR SELCTING FRUIT FLY
Genotype Phenotypes  Short life cycle.
Size of starch Shape of seed  Hundreds of progenies per mating.
grains  They can grow on simple synthetic
BB Large Round medium.
Bb Intermediate Round  Male and female flies are easily
bb Small Wrinkled
distinguishable.

 If starch grain size is considered as LINKAGE AND RECOMBINATION

phenotype, the alleles show incomplete
 Linkage: Physical association of 2 or more
dominance.
genes on a chromosome.
5. POLYGENIC INHERITANCE  Recombination: It is the generation of non-
parental gene combinations.
 Three or more genes control a character.
Eg: Human skin colour, human height. Morgan’s Conclusion
 AABBCC = darkest skin colour.
o When two genes were situated on the
 aabbcc = lightest skin colour.
same chromosome, the proportion of
 AaBbCc= intermediate colour.
parental gene combinations was much
higher than the non-parental type. This is
due linkage.
REASON FOR UNRECOGNITION OF MENDEL’S
o Tightly linked genes show low
WORK
recombination.
1. Communication was not easy. o Loosely linked genes show high
2. His concept of genes (factors) as stable and recombination.
discrete units was not accepted.
GENETIC MAP
3. His mathematical approach was new and
unacceptable.  It is the diagrammatic representation of
4. Mendel could not provide any physical distance of genes in a chromosome.
proof for the existence of factors.  It was constructed by Alfred Sturtevant.
SEX DETERMINATION o Mutation causes changes in the genotype
and the phenotype of an organism.
There are 2 types of chromosomes:
o It was explained by Hugo De Vries.
1. Autosomes: Control the somatic
Mutagens:
characters.
2. Sex chromosomes: Involved in sex  The agents which cause mutation are
determination. called mutagens.
 Physical mutagens: UV radiation,
SEX DETERMINATION METHODS
X-ray, α, β, γ rays etc.
Mechanism Examples  Chemical mutagens: Mustard gas,
XX female - XY male Humans, drosophila phenol, formalin etc.
XX female – XO male Grasshopper
ZW female – ZZ male Birds Types of mutation:
Haplo-diploid Honey bee 1. Frame-shift mutation: Loss or gain of a
DNA segment.
 Male heterogamety: Male produce two 2. Point mutation: Change in a single base
different gametes. Eg: Humans, drosophila pair of DNA. Eg: Sickle cell anaemia.
(XX female – XY male method). PEDIGREE ANALYSIS
 Female heterogamety: Female produce
two different gametes. Eg: Birds (ZW  It is analysis of inheritance of a particular
female – ZZ male method). trait through several generations in a
family (pedigree).
Sex determination in humans (XX female – XY
male method) Symbols used in the pedigree analysis:

Male X Female

Sex determination in honey bee (Haplo-diploid

method)

Significance:
 To trace the inheritance of a specific trait,
abnormality or disease.

MUTATION

o It is a sudden heritable change in DNA.

GENETIC DISORDERS  Homozygous dominant (HbAHbA):
normal.
1. Mendelian disorders – Caused by change
 Heterozygous (HbAHbS): carrier.
in the single gene.
 Homozygous recessive (HbSHbS):
2. Chromosomal disorders – Caused by
affected.
change in chromosome number or
arrangement.
1. MENDELIAN DISORDERS
a. Haemophilia

Reason Symptoms

A protein that helps A simple cut results in

in blood clotting is non-stop bleeding.
affected. c. Phenyl ketonuria

Reason Symptoms
 Sex linked (X-linked) recessive disease.
 The disease is controlled by 2 alleles, H & Lacks an enzyme Accumulation of these
that converts in brain results in
h. H is normal allele and h is responsible for
phenylalanine into mental retardation.
haemophilia.
tyrosine. As a result, These are also excreted
 Heterozygous female (carrier) transmits phenylalanine through urine because
the disease to son. accumulates and of its poor absorption
 In females, haemophilia is very rare converts into phenyl by kidney.
because it happens only when mother is at pyruvic acid.
least carrier and father haemophilic.
 Queen Victoria was a carrier.

b. Sickle cell anaemia  Autosomal recessive disorder (single gene

mutation).
Reason Symptoms  An inborn error of metabolism.
Substitution of Glutamic Change in shape d. Colour blindness
acid (Glu) by Valine (Val) at of the RBC to
the sixth position of the β- sickle like Reason Symptoms
globin chain of the structure. RBCs Defect in certain Failure to discriminate
haemoglobin (Hb). are destroyed genes present in the X red and green colour.
leading to chromosome.
This is due to the single base
anaemia.
substitution at the sixth
codon of the β-globin gene  Sex-linked recessive disorder.
from GAG to GUG.  It occurs in about 8% of males and only
about 0.4% of females. This is because the
genes are on the X chromosome.
 Autosome linked recessive disease.  The son of a woman who carries the gene
 Transmitted from parents to the offspring has a 50% chance of being colour blind. A
when both the partners are carrier daughter will not normally be colour blind,
(heterozygous) for the gene. unless her mother is a carrier and her
 The disease is controlled by a pair of allele, father is colour blind.
HbA and HbS.
e. Thalassemia Disorder Genetic Phenotype
constitution (symptoms)
Reason Symptoms
(karyotype)
Reduced rate of Anaemia.
Down’s Presence of an
Short statured
synthesis of alpha or
beta chains of syndrome additional with small round
haemoglobin. (trisomy of copy of
head. Broad flat
Formation of 21). chromosome face. Furrowed
abnormal Hb. number 21. big tongue and
partially open
45 A + XX
mouth. Broad
 Autosomal recessive disorder. (female)
palm. Retarded
 Blood disease transmitted from parents to
45 A + XY physical,
the offspring when both the partners are
(male) psychomotor &
carrier (or heterozygous).
mental
(i.e. 47
Alpha thalassemia Beta thalassemia development.
chromosomes)
Production of alpha Production of beta globin Congenital heart
globin chain chain is affected. disease.
reduces.
Mutation in HBA1 Mutation in HBB gene on Klinefelter’s Presence of an Development of
and HBA2 genes on chromosome 11. Syndrome additional breast
chromosome 16. copy of X (Gynaecomastia).
chromosome
Sterile.
in male
2. CHROMOSOMAL DISORDERS (trisomy). Mentally
o Aneuploidy: Gain or loss of chromosomes. retarded.
44 A + XXY
Reason: Failure of segregation of
chromatids during cell division. Eg: Down’s (i.e. 47
syndrome, Turner’s syndrome. It includes; chromosomes).

Turner’s Absence of one Sterile, Ovaries

 Monosomy (2n-1): One syndrome X chromosome are rudimentary.
chromosome is lost from diploid in female
set. Lack of other
(monosomy).
 Trisomy (2n+1): One chromosome secondary sexual
is added to diploid set. 44 A + X0 characters.

(i.e. 45 Dwarf.
o Polyploidy (Euploidy): Increase in a whole chromosomes).
set of chromosomes. Reason: Failure of Mentally
cytokinesis after telophase stage of cell retarded.
division. This is often seen in plants.