Principles of Inheritance

and Variations
Introduction Incomplete Dominance

• Inheritance is the process by which characters are passed on 1) When experiments on peas were repeated on dog
from parent to progeny; it is the basis of heredity. flower (Snapdragon or Antirrhinum sp.), it was
• Variation is the degree by which progeny differ from their found that sometimes the F1 had a phenotype
parents that did not resemble either of the two parents
• One of the cause of variation : Sexual reproduction and was in between the two.
• Sahiwal cows in Punjab is developed through artificial selection 2) Another example of incomplete dominance is
and domestication starch grain size
• Our ancestors knew about the inheritance of characters and BB : Round large seeds bb: small wrinkled seeds
variation, they had very little idea about the scientific basis of Bb : Round seed intermediate size (incomplete
these phenomena dominance)
Genotypic ratio = Phenotypic ratio
Mendel’s laws of inheritance (1 : 2 : 1) = (1 : 2 : 1)

• Mendel performed hybridization Co-dominance

experiment (1856 – 1863) • in the case of co-dominance the F1 generation resembles both
• Pea plant --- Larger sample size parents
--- confirmed his inferences on • ABO blood groups are controlled by the gene I
successive generations • ABO blood grouping shows multiple allele.
• Mendel used true breeding lines • The gene (I) has three alleles iA , iB and iO
• A true breeding line is one that, having undergone continuous • iA = iB > iO
self-pollination, shows the stable trait inheritance and expression • When IA and IB are present together (AB Blood group)they both
for several generations. express their own Types of sugars : called as codominance
• He used statistical and mathematical logic, used large sample • There are six different combinations of these three alleles that
size are possible
• Mendel used 7 contrasting character,
14 true breeding plants varieties

Inheritance of one gene

• Mendel called gene as Factors

• Described factors as Stable and discrete units of inheritance
• Genes which code for a pair of contrasting traits are known as
alleles, i.e., they are slightly different forms of the same gene
• TT or tt : Pair identical allele  Homozygous Inheritance of two genes
• Tt : Pair of non-identical allele  Heterozygous (Monohybrid
Plant) • Meden performed dihybrid cross where he crossed pea plants
• Laws of Mendel that differed in two characters
➢ Mendel observed that all the F1 progeny plants were tall, like • Seeds with yellow colour and round shape crossed with seeds of
one of its parents; none were dwarf : Stated law of Dominance green color and wrinkled shape
In a dissimilar pair of factors one member of the pair • The yellow and green colour segregated in a 3:1 ratio. Round
Dominates (dominant) the other (recessive) and wrinkled seed shape also segregated in a 3:1 ratio; just like
➢ Mendel also observed that recessive parental trait is expressed in a monohybrid cross
without any blending in the F2 : law of segregation of allele • Punnet square concept given by British geneticist, Reginald C.
or Law of purity of gamete Punnett.

Test Cross
• To determine the genotype of a tall plant at F2 , Mendel crossed
the tall plant from F2 with a dwarf plant (recessive parent) called
as a test cross.

Law of Independent Assortment

• Based on observations on dihybrid crosses
• The law states that ‘when two pairs of traits are combined in a
Genotypic ratio = Phenotypic ratio hybrid, segregation of one pair of characters is independent of
(1 : 1) = (1 : 1)
the other pair of characters’
 Mendel’s work remains unrecognised till 1900, why? Sex Determination
Mendel published his work: 1865
1. Communication was not easy those days
2. Mendel said Genes (factors) are stable and discrete unit,
3. The pair of alleles which did not ‘blend’ with each other: this
idea was not accepted by majority as continuous variation seen
in nature.
4. He used mathematics in biology: many did not like this idea
5. Mendel could not provide any physical proof for the existence
of factors The nuclear structure was first observed by Heinking in 50% of
the insect sperms after spermatogenesis, He called it as X body
In 1900, three Scientists (de Vries, Correns and von Tschermak)
independently rediscovered Mendel’s results on the inheritance of Sex Determination in Honey Bee
characters
Chromosomal Theory of Inheritance • In Honeybee male or
female sex is determined
Chromosomal theory of inheritance by the number of sets of
• Given by Sutton and Bovary chromosomes an
• This theory states chromosomes are the carriers of genes individual receives.
• It correctly explains the mechanism underlying the laws of • Males (n=16) are haploid
Mendelian inheritance by identifying chromosomes with the and females (2n=32) are
paired factors (particles) required by Mendel's laws diploid ,this is called as
haplo diploid sex-
Experimental verification of the chromosomal theory of determination
inheritance is given by Thomas Hunt Morgan
Morgan worked with Drosophila melanogaster, why?
1) Could be grown on simple medium in the laboratory. Mendelian Disorders
2) complete their life cycle in about two weeks,
3) Single mating could produce a large number of progeny flies. • The disorders that are transmitted to the offspring as per
4) clear differentiation of the sexes Mendelian principles of inheritance are called Mendelian
5) variations that can be seen easily with microscope disorders
• X linked recessive : Haemophilia, Colour blindness
Linkage and Recombination • Autosomal recessive : Cystic fibrosis, Sickle cell anaemia, ,
Phenylketonuria, Thalassemia etc.
• When Morgan performed dihybrid cross, his F2 ratio deviated
very significantly from the 9:3:3:1 Colour Blindness
• He observed that the two genes did not segregate independently • X linked recessive disorder
of each other • Affected individual fail to discriminate between red and green
• Morgan attributed this due to the physical association or linkage colour
of the two genes and coined the term linkage to describe this
physical association of genes on a chromosome Haemophilia
• tightly linked genes - showed very low recombination • X linked recessive disorder
• loosely linked genes - showed higher recombination • Protein involved in clotting of blood is affected  non stop
• Alfred Sturtevant used the frequency of recombination between bleeding
gene pairs on the same chromosome as a measure of the distance
between genes and ‘mapped’ their position on the chromosome. Sickle cell anemia
• Autosomal recessive disorder, Chr 11
▪ HbA HbA  Normal Haemoglobin
▪ HbA HbS  Carrier of a disease
▪ HbS HbS  Sickle cell anaemia
• Caused by substitution of Glutamic acid
Polygenic inheritance (Glu) by Valine (Val) at the sixth position
• Mendel described traits as having distinct form e.g. Tall and of the beta globin chain of the
Dwarf haemoglobin molecule
• But there are many traits which are not so distinct in their • This results due to the single base substitution at the sixth codon
occurrence and are spread across a gradient. E.g. Height, Skin of the beta globin gene from GAG to GUG (Point mutation)
color. Continuous variation is seen in such trait
• Such traits are generally controlled by three or more genes and Phenylketonuria
are thus called as polygenic traits. • Autosomal recessive trait
• Affected individual lacks an enzyme that converts the amino
Pleiotropy acid phenylalanine into tyrosine.
• In general one gene control a single phenotype or trait
• But in some instances a single gene can exhibit multiple
phenotypic expressions; Such a gene is called a pleiotropic gene
Thalassemia Down’s Syndrome
• Autosomal recessive blood disease • Presence of an additional copy of the chromosome number 21
• Chr no 16 : 4 allele involve in synthesis of α globin (trisomy of 21)
• Chr no 11 : 2 allele synthesize β globin • The affected individual is short statured with small round head,
• In α Thalassemia, production of α globin chain is affected while furrowed tongue
in β Thalassemia, production of β globin chain is affected • Palm is broad with characteristic palm crease.
• Occurs due deletion mutation

• Thalassemia : quantity of RBC is less

• In sickle cell anaemia quality of RBC is defective

Chromosomal Disorders Klinefelter’s Syndrome

• Chromosomal disorders are caused due to absence or excess or • caused due to the presence of an additional copy of X
abnormal arrangement of one or more chromosomes. chromosome resulting into a karyotype of 47, XXY
• Failure of segregation of chromatids during cell division cycle • Masculine with feminine development (breast)
results in the gain or loss of a chromosome(s), called aneuploidy. • Such individual is sterile

Turner’s syndrome:
• Caused due to the absence of one of the X chromosomes, 45 X0
• Sterile female, lack secondary sexual characters

Turner’s syndrome

• Failure of cytokinesis after telophase stage of cell division

results in an increase in a whole set of chromosomes in an
organism and, this phenomenon is known as polyploidy

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