Notes -Inheritance and variation

Inheritance is the passing on of traits from parents to their offspring; the organisms
acquire the genetic information of their parents

Gregor Mendel, conducted hybridisation experiments on garden peas for seven years
(1856-1863) and proposed the laws of inheritance in living organisms
His work, entitled “Experiments on Plant Hybrids” was published in 1866

Reasons For Selection Of Pea Plant

• Easy to Cultivate
• Its flowers were hermaphrodite
• Controlled Cross-Pollination possible
• Many Distinct Traits
• Short Generation Time(6 months)

Mendel’s investigations into inheritance patterns

• It was for the first time that statistical analysis and mathematical logic were
applied to problems in biology.
• His experiments had a large sampling size, which gave greater credibility to the
data that he collected.
• Also, the confirmation of his inferences from experiments on successive
generations was done

Mendel artificial cross pollination experiments

• Used several true-breeding pea lines.
• A true breeding line is one that, having undergone continuous self-pollination,
shows the stable trait inheritance and expression for several generations.
• Mendel selected 14 true-breeding pea plant varieties, as pairs which were
similar except for one character with contrasting traits.

 Monohybrid cross - cross involving a single trait e.g. flower color

 Dihybrid cross - cross involving two traits e.g. flower color & plant height
 Alleles - two forms of a gene (dominant & recessive)
 Dominant - stronger of two genes expressed in the hybrid; represented by a
capital letter (R)
 Recessive - gene that shows up less often in a cross; represented by a lowercase
letter (r)
HOMOZYGOUS HETEROZYGOUS

Homozygous carries similar alleles Heterozygous carries dissimilar

of a trait. E.g. RR, rr. allele
e.g. Rr.

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Homozygous individual can carry Heterozygous individual has both,
either dominant or recessive alleles, i.e. one dominant and one
but not both at a time. recessive alleles.

Only one type of gametes are Two types of gametes are

produced. produced.
– Mendelian factors are now called genes
– Alleles are different versions of the same gene
– An individual with two identical alleles is termed homozygous
– An individual with two different alleles, is termed heterozygous
– Genotype refers to the specific allelic composition of an individual (gg, Gg, GG)
– Phenotype refers to the outward appearance of an individual (round
seed ,wrinkled seed)

• TT and tt are called the genotype of the plant while the descriptive terms tall and
dwarf are the phenotype.

Law of Segregation
• Though the parents contain two alleles during gamete formation, the factors or
alleles of a pair segregate from each other such that a gamete receives only
one of the two factors.
• a homozygous parent produces all gametes that are similar
• while a heterozygous one produces two kinds of gametes each having one
allele with equal proportion.

A Punnett square is a grid that enables one to predict the outcome of simple genetic
crosses It was proposed by the English geneticist, Reginald Punnett
• It is a graphical representation to calculate the probability of all possible
genotypes of offspring in a genetic cross.
• The possible gametes are written on two sides, usually the top row and left
columns. All possible combinations are represented in boxes below in the
squares, which generates a square output form.

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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).
The law of dominance is used to explain the expression of only one of the parental
characters in a monohybrid cross in the F1 and the expression of both in the F2. It
also explains the proportion of 3:1 obtained at the F2.

Test cross

• In a typical test cross an organism showing a dominant phenotype (and whose

genotype is to be determined) is crossed with the recessive parent instead of
self-crossing.
• The progenies of such a cross can easily be analysed to predict the genotype of
the test organism.
• The purpose of the test cross is to determine the genetic makeup of the
dominant organism.
• the phenotype alone doesn’t not tell you the genotype of an organism.
• The organism could be hiding a recessive, non-expressed allele.
• To find out what this unknown allele was, Mendel developed the technique of
breeding this individual with a homozygous recessive individual for the same trait
• MONOHYBRID TEST CROSS RATIO=1:1

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Question:
How many gametes will be produced for the following allele arrangements?
Remember: 2n (n = no of heterozygotes)
1. RrYy: 2n = 22 = 4 gametes
RY Ry rY ry
2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD
3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64 gametes

DIHYBRID CROSS

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DIHYBRID TEST CROSS

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Law of Independent Assortment
• ‘when two pairs of traits are combined in a hybrid, segregation of one pair of
characters is independent of the other pair of characters’.
• The Law of Independent Assortment states that completely different pairs of
alleles are passed onto the offspring independently of each other. Therefore, the
inheritance of genes at one location in a genome doesn’t influence the
inheritance of genes at another location.

3 LAWS OF MENDEL
• Law of Segregation: When gametes form, alleles are separated so that each
gamete carries only one allele for each gene
• Law of Independent Assortment: The segregation of alleles for one gene occurs
independently to that of any other gene*
• Principle of Dominance: Recessive alleles will be masked by dominant alleles

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What exactly is dominance?
Why are some alleles dominant and some recessive?
• Let’s take an example of a gene that contains the information for producing an
enzyme.
• Let us assume that the normal allele produces the normal enzyme that is needed
for the transformation of a substrate S.
• Theoretically, the modified allele could be responsible for
• production of –
(i) the normal/less efficient enzyme, or
(ii) a non-functional enzyme, or
(iii) no enzyme at all

 Incomplete Dominance
 First Non-Mendelian Inheritance
It refers to a genetic situation in which one allele does not completely dominate
another allele and therefore results in a new phenotype.
• the F1 had a phenotype that did not resemble either of the two parents and was
in between the two.
Example: dog flower (snapdragon or Antirrhinum sp.)
• Inheritance in snapdragon flower colour shows incomplete dominance. In this
phenomenon, neither of the two alleles are completely dominant over the
other and the hybrid is intermediate between the two.
• Hence, red is a homozygous dominant, white is a homozygous recessive, While
hybrid is an intermediate i.e. pink.

Co-Dominance and multiple allele

 Second Non-Mendelian Inheritance
Multiple alleles is a type of non-Mendelian inheritance which involves more than just
the typical two alleles
The gene (I) has three alleles IA , IB and i.
When Two alleles are expressed in heterozygous individuals it is called codominance.
• the F1 generation resembles both parents
• ABO blood grouping in human beings
• ABO blood groups are controlled by the gene I.
• The plasma membrane of the red blood cells has sugar polymers that protrude
from its surface and the kind of sugar is controlled by the gene
• The gene (I ) has three alleles IA, IB and i.
• The alleles IA and IB produce a slightly different form of the sugar while allele i
doesn’t produce any sugar
• IA and IB are completely dominant over i,
• But when IA and IB are present together they both express their own types of
sugars this is because of co-dominance

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 • Occasionally, a single gene product may produce more than one effect
• Pleiotropy. It means that ‘One Gene Can Affect Multiple Traits’. 
Phenylketonuria
• inborn error of metabolism
• autosomal recessive trait
• The affected individual lacks an enzyme that converts the amino acid
phenylalanine into tyrosine.
• phenylalanine is accumulated and converted into phenylpyruvic acid
• Accumulation of these in brain results in mental retardation.
These are also excreted through urine because of its poor absorption by kidney.
INBORN ERROR OF METABOLISM
• Inborn errors of metabolism are rare genetic (inherited) disorders in which the
body cannot properly turn food into energy. The disorders are usually caused
by defects in specific enzyme that help break down (metabolize) parts of food
•  In phenylketonuria, mutation of a gene that codes for the enzymes
phenylalanine hydroxylase results in loss of this enzyme due to which it is
characterized by
1. mental retardation
2. a reduction in hair and
3. skin pigmentation

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Pleiotropy in pea plant
SINGLE GENE CONTROL 2 TRAITS IN PEA PLANT
1.Shape of seed
2.Size of starch grain
It has two alleles (B and b)
• Starch is synthesised effectively by BB homozygotes and therefore, large starch
grains are produced at maturity seed are round.
• In contrast, bb homozygotes have lesser efficiency in starch synthesis and
produce smaller starch grains and seed are wrinkled
• BB seeds are round and the bb seeds are wrinkled.
• Bb -Heterozygotes produce round seeds, and so B seems to be the dominant
allele.
• But, the starch grains produced are of intermediate size in Bb seeds.
• So if starch grain size is considered as the phenotype, the alleles show
incomplete dominance
Gene for starch synthesis in Pea.
BB, dominant gene in homozygous condition:
• More effective in starch synthesis.
• Starch grains are of larger size.
• Seeds are round in shape.
bb, recessive gene in homozygous condition:
• Less effective in starch synthesis.
• Starch grains are of smaller size.
• Seeds are wrinkled in shape.
Bb, gene in heterozygous condition:
• More effective in starch synthesis.
• Seeds are round in shape.
• Starch grains are of intermediate size as the gene shows incomplete dominance

• The Gene Control Shape Of Seed In Complete Dominance , Showing Only 2

Phenotypes Round And Wrinkled seed
• The Same Gene Control Size Of Starch Grain In Incomplete DominancShowing 3
Phenotypes Large ,Intermediate and Small Sized Starch Grain

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Polygenic Inheritance
• Polygenic inheritance, also known as quantitative inheritance, refers to a single
inherited phenotypic trait that is controlled by two or more different genes.
• It differs from Mendelian Genetics, where monogenic traits are determined by
the different alleles of a single gene, polygenetic traits display a range of possible
phenotypes, determined by a number of different genes and the interactions
between them.
• Each of the genes that contributes to a polygenic trait, has an equal influence
and each of the alleles has an additive effect on the phenotype outcome.
• Many physical traits in man are controlled by polygenic inheritance, such as
height and skin color, as well as the non-visible traits such as intelligence, occur
on a continuous gradient, with many variations.
Example of Polygenic Inheritance
Skin Color in man
• The pigment melanin is responsible for dark coloration in the skin and there are
at least three genes, which control for human skin color.
• the production of melanin is controlled by contributing alleles (denoted here as
A, B and C), resulting in dark skin color, and therefore light skin color is
produced by non contributing alleles (denoted here as a, b and c)
• each contributing allele produces one unit of color.
• In an example using two parents, heterozygous for each of the melanin-
producing genes (AaBbCc x AaBbCc), it is possible to see how the additive effects
and combinations of alleles results in all the possible genotypes.

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 • In this simplified example, there are 64 possible allele combinations, which
result in the production of 7 different colored skin tones.
• The skin tones which are least likely to occur are those resulting from
entirely homozygous genotypes. The lightest skin tone, 0 (aabbcc), which lacks
any alleles contributing melanin pigment, or the darkest skin tone, 6 (AABBCC),
which contains all possible contributing alleles; each of these phenotypes
occurs at a probability of 1/64.
Features of polygenic traits
• Traits are controlled by more than one gene each gene plays a role in the
expression of the trait
• Bell shaped graph is typical of polygenic traits
• Trait varies greatly from person to person that is why a person can be very tall
very short to anything in between.

Mendel published his work on inheritance of characters in 1865 but for several
reasons, it remained unrecognized till 1900. why?

1. communication was not easy in those days and his work could not be widely
publicised
2. his concept of genes (or factors), as stable and discrete units that controlled the
expression of traits and, of the pair of alleles which did not ‘blend’ with each other, was
not accepted
3.Mendel’s approach of using mathematics to explain biological phenomena was totally
new and unacceptable to many of the biologists of his time
4. he could not provide any physical proof for the existence of factors

Rediscoverers of Mendelism
1900, three Scientists
• de Vries,
• Correns and
• von Tschermak
independently rediscovered Mendel’s results on the inheritance of characters.

Who figured out that genes are on chromosomes?

• Walter Sutton and Theodor Boveri

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CHROMOSOME THEORY OF INHERITANCE.
• In 1902 and 1903, Sutton and Boveri gave the chromosome theory of
inheritance.
• Walter Sutton and Theodore Boveri noted that the behaviour of chromosomes
was parallel to the behaviour of genes and used chromosome movement to
explain Mendel’s laws
• chromosomes as well as genes occur in pairs.
• The two alleles of a gene pair are located on homologous sites on homologous
chromosomes.

LINKED GENES
 Chromosomes carry many genes. 
Genes on the same chromosome are called " linked genes " and often
they move together during meiosis because they are physically together
and can separate only if crossing over takes place
 Linked genes do not independently assort, therefore affect variation and
show less recombinant frequency and deviate from typical dihybrid
phenotypic ratio of 9:3:3:1
 The law of independent assortment does not hold true for genes located
on the same chromosome (i.e. linked genes)

Thomas Hunt Morgan

• Thomas Hunt Morgan, who studied fruit flies, provided the first strong
confirmation of the chromosome theory.
• Morgan discovered a mutation that affected fly eye color. He observed that the
mutation was inherited differently by male and female flies.
Based on the inheritance pattern, Morgan concluded that the eye color gene must be
located on the X chromosome

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Linkage and Recombination
• Morgan carried out several dihybrid crosses in Drosophila to study genes that
were sex-linked. The crosses were similar to the dihybrid crosses carried out by
Mendel in peas.
• For example Morgan hybridised yellow-bodied, white-eyed females to brown-
bodied, red-eyed males and intercrossed their F1 progeny.
• He observed that the two genes did not segregate independently of each other
and the F2 ratio deviated very significantly from the 9:3:3:1 ratio
Drosophila melanogaster-
which were found very suitable for genetic studies.
1. They could be grown on simple synthetic medium in the laboratory.
2. They complete their life cycle in about two weeks,
3. and a single mating could produce a large number of progeny flies.
4. Also, there was a clear differentiation of the sexes – the male and female flies
are easily distinguisable.
5. Also, it has many types of hereditary variations that can be seen with low power
microscopes.

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2 types of linked genes
1. Tightly linked genes
2. Loosly linked genes
Tightly linked genes
1.Genes close to each other in the same chromosome.
2.They show low recombinant frequency
Example: the genes for eye colour and body colour in Drosophila is present in X
chromosome very close to each other. Recombinant frequency is 1.3%
LOOSLY linked genes
1.Genes away to each other in the same chromosome.
2.They show higher recombinant frequency
Example: the genes for eye colour and nature of wing in Drosophila is present in
X chromosome away from each other .Recombinant frequency is 37.2 %

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 Morgans observations
1. Some genes controlling ordinary body character were located on the X
chromosome
2. when the two genes in a dihybrid cross were situated on the same chromosome,
the proportion of parental gene combinations were much higher than the non-
parental type.
3. He coined the term linkage to describe physical association of genes on a
chromosome and the term recombination to describe the generation of non-
parental gene combinations
4. 4.some genes were very tightly linked –showed very low recombination
5. 5.while others were loosely linked-showed higher recombination
6. 6.Genes for eye colour and body colour were very tightly linked and showed only
1.3 per cent recombination
7. 7.Genes for eye colour and nature of wing were loosly linked and showed 37.2
per cent recombination
Mapping of genes
• Morgan student Alfred Sturtevant used the frequency of recombination between
gene pairs on the same chromosome as a measure of the distance between
genes and ‘mapped’ their position on the chromosome.
• Today genetic maps are extensively used as
a starting point in the sequencing of whole genomes as was done in the case of
the Human Genome Sequencing Project

sex determination

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 • Sex determination is the establishment of sex through differential development
in an organism or offspring.
• It determines whether it will be male or female.
• Different species use very different strategies for this purpose.
• Some organisms like turtles rely entirely on environmental factors such as
temperature for sex determination. .
• Sex of human being and insects like grasshopper, Firefly, Drosophila etc. is
determined genetically.
• cytological observations made in a number of insects led to the development of
the concept of genetic/chromosomal basis of sex-determination
• Henking (1891) could trace a specific nuclear structure all through
spermatogenesis in a few insects, and it was also observed by him that 50 per
cent of the sperm received this structure after spermatogenesis, whereas the
other 50 per cent sperm did not receive
• Henking gave a name to this structure as the X body
• ‘X body’ of Henking was in fact a chromosome and that is why it was given the
name X-chromosome
Types Of Chromosomal Basis Of Sex Determination
• Male heterogamety: In this type, a male individual produces two different types
of gametes.
• Thus, the sex of the offspring is determined by the sperm.
• two types of Male heterogamety sex-determining mechanisms;
1. XO type and
2. XY type
XO type (XX-XO type)
•  It is observed in a large number of insects e.g. Grasshopper.
• The number of chromosomes is different in male and female individuals.
• all eggs (ova) bear an additional X-chromosome besides the autosomes
• while only 50% of the sperms bear X-chromosomes.
• In grasshopper, eggs fertilized by (A+X) type sperm become females while
those fertilized by (A+O) type sperm become males.
• Therefore, sperm determines the sex of the offspring.

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XY type (XX-XY) type
• In a number of other insects like Drosophila and mammals including human
beings
• the males contains two types of sex chromosomes (X and Y)
• females possess two similar types of sex chromosomes (XX)
• Both male and females have the same number of chromosomes.
• In males, Y-chromosome is often shorter than the X-chromosome.
Sex Determination in Humans
• Human females have two X chromosomes (XX) and males have a single X and a
single Y chromosome (XY)
• 50% of the total sperm produced possess the X-chromosome and the rest 50%
has Y-chromosome besides the autosome.
• There is an equal probability of fertilization of the ovum (22+X) with the sperm
carrying either X or y chromosome.
• If ovum fertilizes with (22+ X) type sperm, the zygote develops into a female
(44+ XX).

Sex Determination In Birds

Birds show Female heterogamety

• Birds- In this case the total number of chromosome is same in both males and
females.

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 • But two different types of gametes in terms of the sex chromosomes, are
produced by females, i.e., female heterogamety.
• 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 ,so males
are homogametic
Sex determination in Honey Bee
• The number of sets of chromosomes an individual receives is the basis of the sex-
determination in honey bee.
• An offspring formed of the union of a sperm and an egg develops as a female
(queen or worker),
an unfertilized egg develops as a male (drone) by means of parthenogenesis
• This means that the males have half the number of chromosomes than that of a
female.
• The females are diploid having 32 chromosomes
• males are haploid, have 16 chromosomes.
• This is called as haplodiploid sex-determination system
• Important characteristic feature is that males produce sperms by mitosis
• Male honeybees , do not have father and thus cannot have sons, but have a
grandfather and can have grandsons

XX-XO system: males are heterogametic

• XX – female
• XO – male
Example : grasshoppers
XX-XY system:males are heterogametic
• XX – female
• XY – male
Example : Mammals,Drosophila
ZZ-ZW system:females are heterogametic
• ZZ – male
• ZW – female
Example: Birds

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Haplodiploidy system:
• Haploid set – male
• Diploid set – female
Example : Bees, wasps, and ants

GENETIC DISORDERS

Genetic disorders may be grouped into two categories

1. Mendelian disorders
2. Chromosomal disorders
Mendelian disorders
1. Mendelian disorders are mainly caused by alteration or mutation in the single
gene.
2. These disorders are transmitted to the offspring on the same lines as we have
studied in the principle of inheritance.
3. Mendelian disorders can be traced in a family by the pedigree analysis.
• Example: Haemophilia, Cystic fibrosis,
Sickle-cell anaemia, Colour blindness, Phenylketonuria, Thalesemia, etc.
Mendelian disorders may be
1. Autosomal dominant disorder
2. autosomal recessive disorder or
3. Sex linked disorder
• By pedigree analysis one can easily understand whether the trait in question is
dominant or recessive or the trait may also be linked to the sex chromosome

Autosomal dominant disorder

1. It is due to mutated dominant gene in the autosome
2. Only one mutated allele is enough to cause the disorder
3. The disorder is shown both in homozygous dominant and heterozygous
condition(AA/Aa)
4. At least one parent should have the disorder for the progeny to get it
5. Trait does not skip generation
6. Both genders are equally affected
7. There are no carriers for the disease
EXAMPLE : Myotonic dystrophy

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Autosomal recessive disorder
1. It is due to mutated recessive gene in the autosome
2. Two mutated allele is enough to cause the disorder
3. The disorder is shown only in homozygous recessive condition(aa)
4. Unaffected parents can have affected progeny if they are carriers
5. Trait often skip generation
6. Both genders have equal probability of getting the disease
7. Both genders can be carriers in heterozygous condition(Aa)
Example : Autosomal Recessive Disorder
1. Phenyleketonuria
2. Cystic fibrosis
3. Sickle cell anaemia
4. thalassemia

Phenylketonuria(PKU)
• inborn error of metabolism
• Mode of inheritance:autosomal recessive trait
• Disease is due to mutated gene that codes for enzyme phenylalanine
hydroxylase(PAH)
• The affected individual due to lack of enzyme PAH cannot convert the amino
acid phenylalanine into tyrosine.
• phenylalanine is accumulated and converted into phenylpyruvic acid
• Accumulation of these in brain results in mental retardation.
• reduction in hair
• skin pigmentation
• phenyl pyruvic acid is excreted through urine because of its poor absorption by
kidney.
• This gene is pleiotropic because it controls many phenotyic expression
What happens if a carrier (Cc) and a ‘normal’ person (CC) want to have
children?

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 What are the chances of the child having the disease, being a carrier or not a
carrier?

Sickle-cell anaemia
• blood related disease
• Inherited as autosome linked recessive trait
• Defect is due to single gene mutation
• When a person gets two recessive mutated allele they get the disease
• Usually transmitted from parents to the offspring when both the partners are
carrier for the gene
(or heterozygous).
• The single pair of alleles of gene HbA (normal form) and HbS (sickle form) govern
sickle-cell anaemia, which results in the occurrence of three possible genotypes
• The disease is controlled by a single pair of allele, HbA and HbS
• Out of the three possible genotypes only homozygous individuals for HbS HbS
show the diseased phenotype.
• Heterozygous individuals HbA HbS are unaffected

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Point mutation in sickle cell aneamia

THALASSEMIA
Blood related genetic disorder
• Autosomal recessive trait
• Defect is due to single gene mutation
• Different types of thalassemia classified based on which chain of haemoglobin is
affected
• There is a reduced synthesis of globin chains of the haemoglobin
• It is a quantitative problem
• Anaemia is a characteristic symptom of the disease

Sex linked recessive disorder

1.it is due to mutated recessive gene in the sex chromosome(X chromosome)
2.Only one mutated gene is needed to cause the disorder in male and two mutated
gene to cause the disorder in female
3.Most of the affected individuals are males
4.Affected female come from affected fater and affected or carrier mother
6.Only females can be carrier
examples :
1.haemophila
2.colour blindness

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 • When assigning alleles for a sex-linked trait, the convention is to write the allele
as a superscript to the sex chromosome (X)
Haemophilia:  XH = unaffected (normal blood clotting)
Xh = affected (haemophilia)
Haemophilia/bleeders disease/royal disease
• Blood related disease
• sex linked recessive disease of X chromosome
• A single gene responsible for clotting of blood is affected
• Due to single gene defect ,single protein that is a part of the cascade of proteins
involved in the clotting of blood is affected.
• affected individual a simple cut will result in non-stop bleeding.
• The heterozygous female are carriers for haemophilia
• unaffected carrier female can transmit disease to 50% of the male progeny
• The possibility of a female becoming a haemophilic is extremely rare because
mother of such a female has to be at least carrier and the father should be
haemophilic.
• pedigree of Queen Victoria shows a number of haemophilic descendents as she
was a carrier of the disease.

COLOUR BLINDNESS
• Sex-linked recessive disorder
• Due to mutation of gene in the X chromosome
• Defect occurs in the red or green cone of eye

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 • They cannot discriminate red or green colour
• Females are carriers in heterozygous condition because she has two X
chromosome
• the dominant X allele suppresses the defective recessive X allele
• Males have more probability of getting disease because they have only one X
chromosome
• Carrier woman have 50% chance of getting colour blind son
• Daughter is colourblind only if father is colour blind and mother is at least carrier

Cross A: If a colour blind man ( XCY) marries a girl with normal vision (XX), the
daughters would have normal vision but would be the carrier, while sons would also
be normal.

Chromosomal disorder
1. caused due to less or more number of chromosome or its structure (defective
number or structure of the chromosome)
2. the defect can be known through amniocentesis or karyotyping( not by
pedigree)
3. the disorder is rarely transmitted
4. it does not follow principles of mendelian principles of inheritance

Two Types Of Chromosomal Disorder

1.aneuploidy
2.euploidy

Aneuploidy
Extra or missing chromosomes
• Significant alteration in the chromosomal number of an organism due to non-
disjunction/non-separation of the two chromosomes in the homologous pair
during cell division so that one of the resulting gametes possess an extra
chromosome (n+1) with the other gamete lacking a chromosome (n-1).
• Failure of segregation of chromatids during cell division cycle results in the gain
or loss of a chromosome(s), called aneuploidy.

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Euploidy
• Alterations in the chromosomal number resulting in multiple copies of the basic
set or pair of chromosomes affecting the genomic constitution of the organism
ultimately resulting in genetic variations.

Polyploidy
• More than diploid (2n) set of chromosomes.
• Muliple sets of chromosome
• This condition results due to absence of cytokinesis during cell division resulting
in an elevation in the chromosomal set of the organism.
• E.g. Mostly seen in plants.
commercially grown wheat hexaploid (6n) Brassica are tetraploid (4n). When
present in animals it mostly leads to sterility and therefore is not very common.

DOWN SYNDDROME-TRISOMY OF AUTOSOME

• When an individual has a extra copy of chromosome 21, then Down syndrome
occurs. Karyotype:47,21 trisomy
• This failure of segregation of chromatids during cell division cycle results in the
gain or loss of a chromosome(s), called aneuploidy.
• It was first described in 1866 by Langdon Down.
• The disorder develops due to trisomy of chromosome number 21.
The trisomic condition arises due to the formation of n+1 male or female gamete by
non-disjunction and the subsequent fertilization by a normal (n) gamete
Downs Syndrome is characterized by:
a.Short stature
b. Small round head
c. Furrowed tongue
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d. Partially open mouth
e. Broad palm with characteristic palm crease
f. Many ‘loops’ on fingertips
g. Big and wrinkled tongue
h. Physical (underdeveloped gonads and genitals, loose joints), psychomotor and
mental development is retarded
Karyotype of a boy with Down Syndrome

Klinefelter’s Syndrome
• It is caused due to the presence of an additional copy of X-chromosome
resulting in 44+XXY type chromosome complement.
• The defect appears due to the union of an abnormal egg (22+XX) and a normal
sperm (22+Y) or normal egg (22+X) and abnormal sperm (22+XY).
• Such persons are sterile males with overall masculine development and some
female characteristics E.g. Feminine pitched voice, development of breast or
gynaecomastia.

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TURNERS SYNDROME
(MONOSOMY OF SEX CHROMOSOME)
• caused due to the absence of one of the X chromosomes,
• 45 with X0,
• Such females are sterile as ovaries are rudimentary
• other features including lack of other secondary sexual characters
It appears due to the fusion of abnormal egg (22+0) and a normal sperm (22+X) or a
normal egg (22+X) and abnormal sperm (22+0).

Pedigree Analysis
• A pedigree is a visual chart that depicts a family history or the transmission of a
specific trait.
• A pedigree is a chart of the genetic history of a family over several generations
• control crosses that can be performed in pea plant or some other organisms, are
not possible in case of human beings
• study of the family history about inheritance of a particular trait provides an
alternative analysis of traits for several of generations of a family

why pedigree analysis is done ?

• Human has a long life span
• Less no of progeny produced for analysis
• In human genetics,pedigree provides a strong tool, which is utilised to trace the
inheritance of a specific trait, abnormality or disease
• By analyzing a pedigree, we can determine genotypes, identify phenotypes, and
predict how a trait will be passed on in the future.
• The information from a pedigree makes it possible to determine how certain
alleles are inherited: whether they are dominant, recessive, autosomal, or sex-
linked

Symbols in pedigree
• Males are represented as squares, while females are represented as circles
• Shaded symbols means an individual is affected by a condition, while an
unshaded symbol means they are unaffected

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 • A horizontal line between a man and woman represents mating and resulting
children are shown as offshoots to this line
• Generations are labelled with roman numerals and individuals are numbered
according to age (left to right)

Autosomal dominant

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Autosomal Recessive

• If both parents are unaffected and an offspring is affected, the trait must be

recessive (parents are heterozygous carriers)
• If both parents show a trait, all offspring must also exhibit the trait (homozygous
recessive)
• An affected individual may have two normal parents (if parents are both
heterozygous carriers)

X-linked Recessive

• If a female shows a trait, so too must all sons as well as her father

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 • An unaffected mother can have affected sons if she is a carrier (heterozygous)
• X-linked recessive traits tend to be more common in males (this is not sufficient
evidence though)
• it is not possible to confirm sex linkage from pedigree charts, as autosomal traits
could potentially generate the same results
• The key for determining if a trait is X-linked or autosomal is to look at the
offspring of the mating of an affected male and a normal female.
• If a female shows the trait, so must all sons as well as her father
• The disorder is more common in males
• If the affected male has an affected son, then the disease is not X-linked.  

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