Chromosomes and Mechanism of inheritance.

The transmission of genetic information from one generation to other generation is known as
heredity or inheritance.
1. The mechanism of inheritance was successfully investigated before the study of
chromosomes or genes
2. Gregor Mendel, son of the peasant farmer, was born in Moravia in 1822.
3. Gregor Mendel first gave the accurate explanation for the mechanism of inheritance by
using hybridization technique.
4. Mendel studied seven traits in garden pea plant individually one at a time or in combination
of two or three character at a time.
5. These characters are -
Sr. Character Dominant Recessive
No.
1 Height of stem Tall (TT) Dwarf (tt)
2 Colour of flower Coloured (CC) White (cc)
3 Position of flower Aerial (AA) Terminal (aa)
4 Colour of pod Green (GG) Yellow ( gg)
5 Shape of pod Inflated (II) Constricted (ii)
6 Shape of seed Round (RR) Wrinkled (rr)
7 Seed colored Yellow (Y) Green (y)
6. He processed the data mathematically and statistically.
7. Mendel postulated the principles of heredity which are known as fundamental laws of
heredity, as proposed by Correns (1900).
8. According to Mendel, transmission of characters due to ‘something’ present inside the
gametic cell.
9. To this ‘something’, he coined term ‘factors’ that are responsible for expression of a
particular trait/ character.
10. He proposed that factors are particulate in nature.
11. The term the factor is now known as gene which is given by Johannsen.
12. These factors occur in pairs in the parents and segregate from each other during gamete
formation without blending/ mixing.
Reasons for Mendel’s Success:
1) Mendel chose garden pea plant for his experiment which was an annual, naturally self-
pollinating plant with several pairs of contrasting character.
2) experiments were carefully planned and involved large sample.
3) Mendel used pure breeding varieties which are verified personally.
4) He considered contrasting characters for his experiment.
5) Mendel considered only one character at a time
6) Each character in pea plant was controlled by a single factor.
 7) These factors are located on separate chromosomes and these factors are transmitted from
generation to generation
8) He introduced the concepts of dominance and recessive.
9) He kept accurate records.
10) He used statistical method for analyzing of the results.
11) The characters selected by Mendel where present on different chromosomes.
Genetic Terminology:
1. Character: It is a specific feature of an organism e.g. height of stem.
2. Trait: An inherited character and its detectable variant e.g. Tall or dwarf.
3. Factor: According to Mendel, it is a unit of heredity, a particle present in the organism which
is responsible for the inheritance and expression of a character. (factor is passed from one
generation to the next through gametes). Factor determines a genetical (biological) character of
an organism.
4. Gene: It is a particular segment of DNA which is responsible for the inheritance and expression of
that character.
5. Alleles or Allelomorphs: The two or more alternative forms of a given gene (factor) present
on identical loci (positions) of homologous chromosomes is known as allele.
Allele is a short form of Allelomorph.
6. Dominant: It is an allele that expresses its trait even in the presence of an alternative allele
i.e. in heterozygous condition only.
The allele that expresses in F1 is called dominant. (It is an allele of a pair that hides the
expression of other allele in F1 generation.)
7. Recessive: This allele is not expressed in the presence of an alternative allele (in
heterozygous condition).
It expresses only in the presence of another identical allele.
It is an allele that does not express in F1 hybrid.
8. Phenotype: The external apperance of an individual for any trait is called phenotype for that
trait.
It is observable and is determined by different combinations of alleles. e.g. In pea, for the
height of stem (plant) tall and dwarf are the two phenotypes (Tall is determined by TT or Tt
and dwarf by tt).
9. Genotype: Genetic constitution or genetical make up of an organism with respect to a
particular trait.
It is representation of the genetic constitution of an individual with respect to a single
character or a set of characters. e.g. pea tall plants can have genotype TT or Tt and dwarf
has tt.
10. Homozygous (pure): An individual possessing identical alleles for a particular trait, is called
homozygous or pure for that trait.
Homozygous breeds true to the trait and produces only one type of gametes e.g., tall with
TT and dwarf with tt.
11. Heterozygous: An individual possessing contrasting allele for a particular trait, is called
heterozygous.
Heterozygous does not breed true for that trait and produces two types of gametes e.g. F1
generation hybrids (Tt).
Heterozygous individual is also called hybrid.
12. Pure line: An individual or a group of individuals (population) which is homozygous or true
breeding for one or more traits, constitutes pure line i.e. plant which breeds true for a particular
character. It is a descendent of a single homozygous parent produced after self-fertilization.
13. Monohybrid: It is heterozygous for one trait and is produced from a cross between two pure
parents differing in single pair of contrasting characters
e.g. Hybrid tall produced in a cross between pure tall and pure dwarf parents. It is a heterozygote
for a single pair of alleles.
 14. F1 generation: It refers to the first filial generation. It consists of all off-springs produced from a
parental cross.
15. F2 generation: The second generation (progeny) produced by selfing (inbreeding) of F1
generation offsprings is called second filial generation.
e.g. Progeny produced from a cross between two F1 individuals (e.g. Tt × Tt).
16. Punnett square/checker board : It is a probability table representing different permutations and
combination of fertilization between gametes of the opposite mating types.
In short, it is a diagrammatic representation of a particular cross to predict the progeny of a cross.
17. Homologous Chromosomes: The morphologically, genetically and structurally essentially
identical chromosomes present in a diploid cell, are called homologous chromosomes.
Such chromosomes synapse during meiosis.
18. Back cross: It is a cross of F1 progeny with any of the parents (e.g. F1 tall, pure tall× F1 tall, pure
dwarf (Tt,TT×tt).
19. Test cross: It is a cross of F1 progeny with homozygous recessive parent (e.g. F1 tall ×pure dwarf
(Tt × tt ).
It is used to test the homozygous/ heterozygous nature of hybrid. It is a kind of back cross.
20. Phenotypic ratio: It is the ratio of the offsprings produced in F2 and subsequent generation with
respect to their physical appearance
e.g. 3Tall: 1 dwarf, is F2 ‘Phenotypic ratio’ in monohybrid cross.
21. Genotypic ratio: It is the ratio of the offsprings produced in the F2 and subsequent generation
with respect to their genetical makeup
e.g. 1 TT: 2 Tt: 1 tt, is F2 genotypic ratio in monohybrid cross.
Monohybrid Cross Dihybrid Cross
1) A cross between two parents differing in a 1) A cross between two parents differing in a two
single pair of contrasting pair is called pair of contrasting pair is called Dihybrid
monohybrid cross. cross.
2) This type of cross shows 3:1 phenotype 2) These types of cross shows 9:3:3:1 phenotypic
ratio. ratio.
3) This type of cross shows 1:2:1 genotypic 3) This type of cross shows 1:2:2:4:1:2:1:2:1
ratio. genotypic ratio
4) e.g. Tall plant x Dwarf pea plant 4) e.g. Tall red pea Plant x Dwarf white pea plant
Monohybrid cross:
A cross between parents differing in only one heritable trait is called monohybrid cross.
e.g. cross of pure tall and pure dwarf plants. Mendel performed the monohybrid cross between
two pea plants with only one pair of contrasting character.

Phenotypic ratio- 1:3

Genotypic ratio- 1:2:1
Dihybrid cross:
A cross between parents differing in two heritable traits, is called dihybrid cross
e.g. cross of pure tall, round seeded plant with dwarf, wrinkled seeded plant. Mendel also
performed the dihybrid cross between pea plants that differed in two pairs of contrasting characters.

Putting these gametes in checker board

The f2 generation shows four types of offspring: -

1. Red flower Yellow seed -9
2. White flower Yellow seed -3
3. Red flower Green seed -3
4. White flower Green seed -1
The Phenotypic ratio is 9:3:3:1 while the genotypic ratio is 1:2:2:4:1:2:1:2:1
Mendel’s Laws of Inheritance:
Mendel proposed three basic postulates on the basis of which three laws were formulated.
These are described below:
1. Law of Dominance:
In monohybrid and dihybrid crosses, the phenotypic characters are controlled by discrete units,
called factors. In a dissimilar pair of factors, one member of the pair dominates (i.e. dominant) over the
other (i.e. recessive).
 The law of dominance is used to explain the expression of only one of the parental characters of
a monohybrid cross in F1 and the expression of both in F2.
Statement of Law of Dominance: “When two homozygous individuals are crossed with each other
considering one or more sets of contrasting characters, the alleles (characters) that appear in F1 are
dominant and those which do not appear in F1 are recessive”.
2. Law of segregation (Law of purity of gametes):
This law is based on the fact that the alleles do not show any blending/ mixing and both the alleles
(characters) are recovered as such in the F2 generation, though one of these is not seen at the F1 stage.
During formation of gametes, these two alleles (factors) obviously separate or segregate, otherwise
recessive type will not appear in F2. The gametes which are formed are always pure for a particular
character (trait). A gamete may carry either dominant or recessive factor but not both. That’s why it is also
called as law of purity of gametes.
Statement of Law of Segregation: The law states that “When hybrid (F1) forms gametes, the alleles
segregate from each other and enter in different gametes”. The gametes formed are pure in that they
carry only one allele each (either dominant allele or recessive allele).
Hence, this law is also described as “Law of purity of gametes”.
3. Law of Independent Assortment:
This law is based on dihybrid cross.
It is basic principle of genetics developed by a Mendel. It describes how different genes or alleles present
on separate chromosomes independently separate from each other, during formation of gametes. These
alleles are then randomly united in fertilization. In dihybrid cross, F2 phenotypic ratio 9:3:3:1 indicates
that the two pairs of characters behave independent of each other. It can be concluded that the two
characters under consideration are assorted independently giving rise to different combinations.
Statement of Law of Independent Assortment: The law states that “When hybrid possessing two (or
more) pairs of contrasting factors (alleles) forms gametes, the factors in each pair segregate
independently of the other pair”.
Back Cross and Test Cross:
a. Back cross: The F1 individuals obtained in a cross are usually selfed to get the F2 progeny.
They can also be crossed with one of the two parents from which they were derived (either recessive or
dominant). Such a cross is known as back cross.
b. Test cross: The cross of F1 hybrid with the homozygous recessive parent is known as a test cross.
Test cross is used to find out whether an individual is homozygous (pure) or
heterozygous(hybrid).
Test cross can be used to find out genotype of any plant with dominant expression. But it is not
known whether it is homozygous (pure) or heterozygous for that trait.
For example, A pea plant having violet (purple) flowers is crossed with a pea plant with white
flowers. If all flowers produced are violet, then the plant is pure or homozygous and if flowers are violet
and white flowers in 1:1 ratio, then the plant is heterozygous.
Test cross is also used to introduce useful recessive traits in the hybrids of self-pollinated plants
during rapid crop improvement programs.
Following is the graphic representation of test cross. Recessive parent is crossed to find out unknown
genotype.
Test Cross Back Cross
1) If f1 hybrid is cross with its recessive 1) The f1 individuals are cross with any one of
parent known as test cross. the parents.
2) The phenotypic ratio is 1:1. 2) The phenotypic ratio is 1:1 but it is not confirmed
3) Test cross is a back cross. 3) Back cross is not test cross always.
4) e.g. Heterozygous hybrid Tall is 4) e.g. f1 is cross with any parent
crossed with recessive Dwarf parent
 Graphical
representation of test cross
Test cross is a backcross but back cross is not necessarily a test cross.
It is because; in backcross F1 generation can be crossed with either dominant or recessive parent.
But in test cross F1 generation is crossed with recessive parent only. Thus, test cross is a backcross but
back cross is not necessarily a test cross.
Deviations from Mendel’s findings:
On the basis of study of Mendel experiments various conclusions are given such as-
i. Single trait Single gene.
ii. Two alleles show interaction in which one is completely dominant.
iii. Factors (genes) for different traits present on different chromosomes assort independently.
After the death of Mendel many scientists performed the experiment on in the Mendelian inheritance
which shows different ratio than Mendel is a known as deviations (exceptions) to the Mendelian ratio.
Hence it is considered as post Mendelian genetic or non-mendelian genetics.
These deviations are due to interaction of the genes there are two types of interaction of the gene –
i. Intragenic
ii. Intergenic

. i. Intragenic interactions: Occur between the alleles of same gene

1. incomplete dominance
2. co-dominance.
It also occurs between the multiple allele series of a gene.
ii. Intergenic (non-allelic) interactions: Occur between the alleles of different-genes present on the
same or different-chromosomes.
1. pleiotropy
2. polygenes
3. epistasis
4. supplementary genes
5. complementary genes,
a. Incomplete dominance:
1) Incomplete dominance can be defined as a phenomenon in which neither of alleles of genes shows
completely dominant over other and hybrid is intermediate between the two parents.
2) Incomplete dominance is a deviation of Mendel’s laws of dominance which states that out of two
contrasting genes the gene which shows its effect is dominant while the gene which does not show
its effect is recessive, however this recessive hidden character reappeared, unchanged in F2
generation.
3) Thus, according to incomplete dominance f1 phenotype is intermediate between the parental traits
& or parental character.
e.g. Mirabilis Jalapa (Four o clock plant)
If a red-flowered (RR) plant is crossed with a white-flowered (rr) plant, then F1 offsprings have pink
(Rr) flowers.

Result: Genotypic ratio - 1RR : 2Rr : 1rr

Phenotypic ratio - 1Red: 2 Pink :1 White
This indicates the following facts:
1) Pink is the phenotype or heterozygous genotype (Rr)
2) This pattern of inheritance is not due to blending of the character because one fourth (1/4) of f2
progeny are red flower and another (1/4) are white flower similar to the parents.
3) In this type the phenotypic & Genotypic ratio are same (1:2:1) due to incomplete dominance.
b. Co-dominance:
Co dominance is the condition in which both the genes of allele are fully expressed them self’s
equally in f1 hybrid independently means such allele’s shows expression of them self. Here no any gene
is dominant or recessive to the other Thus in co-dominance both alleles are expressed.
 Classic example of co-dominance is coat colour in cattle.

Representation of co-dominance in cattle

Roan Colour in the cattle: -
1) There are two types of cattle: -
One with red coat (skin) with red colored hairs & another with white coat (white shed hairs)
2) When red cattle (RR) is cross with white cattle (WW) f1 hybrids are roan colored (RW). Roan colour
is the mixture of red & white hairs.
3) Here, both the traits are expressed equally i.e. co dominant.
4) In f2 generation (interbreeding) of roan colour red (RR), Roan two (RW) & one white (WW)
individuals are produced in the ratio (1:2:1).
Thus, co dominance shows the genotypic or phenotypic ratio same or identical
I) Complete dominance Incomplete
1) The dominant trait dominates recessive 1) Neither of the traits is completely dominant
trait. over another.
2) When the cross between two homozygous 2) When the cross two homozygous parents
parents for one or more contrasting for one or more contrasting character the
character the f1 hybrid is always dominant f1 hybrid is always intermediate.
trait which is knows as complete dominant 3) Both alleles of one contrasting pair have
3) Dominant allele is stronger the recessive equal traits the express them self’s
allele in it incompletely in it
4) e.g. TT x tt = Tt (Tall) 4) E.g.red with white RR x WW = RW
(Roan colour)
2) Dominance 2) Co dominance
1) In a pair of genes with contrasting character only 1) In a pair of genes with contrasting
one of the traits (Dominant) is expressed in the character both the traits expressed in
hybrid. hybrid.
2) The dominant trait is stronger than the recessive. 2) Both the traits having equal strength
3) Only the product of dominant allele is observed 3) Characters of both the allele’s is
in the phenotype observed in the phenotype.
4) e.g. hybrid tall pea plant (genotype Tt) 4) E.g. Roan colour in cattle
3) Incomplete dominance 3) Co dominance
1) It is the phenomenon in which neither of 1) It is the phenomenon in which two alleles of a
alleles of a gene is completely dominant over gene are equally dominant & shows their
another characters in the presence of other when they are
together.
2) In case of incomplete dominance, the 2) In co dominance both the genes are expressed
phenotype of hybrid is intermediate between the equally.
parents.(expressed partiallly)
3) e.g. pink colour of Mirabilis Jalapa. 3) E.g. roan colour in the cattle.
c. Multiple alleles:
More than two alternative forms (alleles) of a gene in a population occupying the same locus on a
chromosome or its homologue, are known as multiple alleles.
1. Multiple alleles arise by mutations of the wild type of gene.
2. A gene can mutate several times producing a series of alternative expression.
3. Different alleles in a series show dominant- recessive relation or may show co-dominance or
incomplete dominance among themselves.
4. Wild type is dominant over all other mutant alleles.
In Drosophila, a large number of multiple alleles are known.
e.g. In drosophila large no of multiple allele’s are observe the one example of multiple allele is the
size of wings
i.e., just stumps, is due to one allele (vg) in homozygous condition. The normal wing is wild type while
vestigial wing is recessive type.
Normal wings gene (vg+) shows dominance on all the genes while vestigial wings gene is completely
recessive to all the wing type genes (vg)

Few phenotypes and genotypes in Drosophila

Another good example of multiple alleles is A, B, O blood grouping in human beings.
In man, the blood group is controlled by three allelic forms controlling the blood group present on the
same loci hence known as multiple alleles.
These alleles are IA, IB, IO (i). the gene IA produces glycoprotein A, gene IB produces’ glycoprotein
B. while gene I0 (i) does not produce any glycoprotein.
These glycoproteins are present on the membrane of RBC.
According two type of glycoprotein the blood groups are formed when on the membrane & RBC
glycol protein A is present than the blood group is A.
When on the membrane of RBC glycoprotein B is present than the blood group is B.
When the glycoprotein’s A& B both are resent on the membrane of RBC, they show AB blood
group here form A blood group IA gene & form B blood group I B gene is present the IA & IB genes are co
dominant & dominant on gene I0
These three gene produce six types of genotype which controls four blood group as follows.
Gene Blood group
1) IA IA , IA I0 =A
2) IB I B B
, I ,I 0 =B
3) IA IB = AB
4) I0 I0 / (ii) =0
d. Pleiotropy:
1) When a single gene controls two or more different traits it is called as pleiotropic gene & this
phenomena is called as pleiotropy or pleiotropism.
2) In Pleiotropism the ratio is1:2 the instead of 3:1
3) According to Mendel, one gene (factor) controls one character but some time single gene produces
two related or unrelated phenotypic expression. E.g. Sickle cell anemia.

Representation of Pleiotropy
The homozygotes with recessive gene Hbs however, die of total anaemia. Thus, the gene for sickle- cell
anaemia is lethal in homozygous condition and produces sickle cell trait in heterozygous carrier. Two
different expressions are produced by a single gene.
A marriage between two carriers will produce normal, carriers and sickle-
cell anemic children in 1:2:1 ratio. But, Sickle cell anemics die leaving carriers and normal in the ratio
1:2.
The heterozygotes or carriers can be identified by microscopic examination of blood.
Chromosomal Theory of Inheritance:
Gregor Johann Mendel published his work on inheritance of traits in 1866 but for some reasons, it
remained unnoticed till 1900, as communication was not easy in those days. His work was not widely
recognized. His approach of using mathematics and statistics to explain biological phenomenon was
totally new and unacceptable to the biologists.
As continuous variations were observed in nature, Mendel’s concept of factors (genes) as stable
and discrete unit which controlled the expression of characters, and that a pair of alleles did not “blend”
with each other, was not accepted by another biologist. He also did not know the physical location of the
‘factors’ (genes) in the gametic cell.
 In 1900, three scientists Hugo de Vries, Correns and von Tschermak, independently
rediscovered Mendel’s work on the inheritance of traits. Due to advancements in microcopy, scientists
were able to observe cell division and the structure of chromosomes under microscope.
Walter Sutton along with Theodor Boveri (1903) studied the parallel behavior of Mendel’s factors
(genes) and behavior of chromosomes, at the time of meiosis.
Based on these observations, chromosomal theory of inheritance was put forth by Sutton and
Boveri. This theory identifies chromosomes as the carriers of genetic material.
This theory states that the chromosomes are present in pairs in somatic cells. During
gamete formation homologous chromosomes pair, segregate and assort independently during
meiosis. Thus, each gamete contains only one chromosome from a pair.
Nucleus of gametes contains chromosomes, which carry all hereditary traits. Male and female
gametes (sperms and eggs) carry all the hereditary traits. They are the link between parents and
offsprings. The fusion of haploid male gamete and haploid female gamete, restores the diploid number of
chromosomes of the species.

1. These are the chromosomes, which have same genes but they contain different alleles.
2. in Anaphase – I of meiosis- I, homologous chromosomes segregate.
3. Genes are located on the chromosomes inside nucleus.
4. DNA is present on chromosomes, and genes are segment of DNA. hence, they are indirectly
related. they both contain genetic material of the parent and passed on to the progeny. thus, we
can say they both have similar behavior.
Chromosomes:
Chromosomes are filamentous bodies present in the eukaryotic nucleus. The term chromosomes
(Gr., Chromo = colour, soma = body) was coined by W. Waldeyer (1888).
1. The size of chromosome varies from species to species.
2. Each metaphase chromosome varies from 0.1 to 33 mm in length and 0.2 to 2 mm in thickness.
Chromosomes are visible during cell division.
3. They are capable of self-replication and play vital role in heredity, mutation, variation, and
evolutionary development of eukaryotic species.
4. Chemically eukaryotic chromosomes are made of DNA, histone and non-histone proteins.
Function:
Chromosomes are carriers of heredity.
Number of chromosomes:
1. The number of chromosomes is specific and constant for a particular species, therefore it is of
great importance in the study of phylogeny and taxonomy of the species.
 2. The term Ploidy means primary basic number of chromosomes (‘x’) in a cell.
3. When the chromosome number in a cell is the exact multiple of the primary basic number, then it
is called euploidy.
4. Euploids include monoploid/ haploid (with one set of chromosomes where x=n), diploids (2n-two
sets of chromosomes), triploids (3n-three sets of chromosomes), tetraploid (4n-four sets of
chromosomes) and so on.
5. When the chromosome number is not the exact multiple of the haploid set, it is described as
Aneuploidy.
6. Aneuploidy is either addition or deletion of one or more chromosome (s) to the total number of
chromosomes in a cell.

Structure of chromosome:
1. During the metaphase Chromosomes are best visible under microscope. It is because at this
stage chromosomes are highly condensed.
2. Typical chromosome consists of two chromatids joined together at centromere or primary
constriction.
3. Primary constriction consists of a disk shape plate called kinetochore.
4. It is at the kinetochore, spindle fibres get attached during cell division.
5. Besides primary constriction, some few chromosomes possess additional one or two constrictions
called secondary constriction.
6. At secondary constriction I, nucleolus becomes organized during interphase.
7. In very few chromosomes, satellite body (SAT body) is attached at secondary constriction II.
8. Each chromatid in turn contains a long, unbranched, slender, highly coiled DNA thread, called
Chromonema, extending through the length of chromatid.
9. Chromatid consists a double stranded DNA molecule which extends from one end of
chromosomes to other.

A : Parts of chromosomes B : Showing secondary constrictions and details

Structure of Chromosome
Depending upon the position of centromere there are four types (shapes) of chromosomes -.
I. Acrocentric ( j shaped)
II. Telocentric ( i shaped)
 III. Submetacentric ( L shaped)
IV. Metacentric ( V shaped).
The ends of chromosome (i.e. chromatids) are known as telomeres.
Sex Chromosomes:
i. The chromosomes which are responsible for the determination of sex are known as sex
chromosomes (Allosomes).
ii. Human being and other mammals have X and Y Chromosomes as sex chromosomes.
iii. X chromosome is straight, rod like and longer than Y chromosome. X chromosome is metacentric,
iv. Y chromosome is acrocentric.
v. X chromosome has large amount of euchromatin (extended region) and small amount of
heterochromatin (highly condensed region).
vi. In X chromosome Euchromatin has large amount of DNA material, hence genetically active.
vii. Y chromosome has small amount of euchromatin and large amount of heterochromatin,
hence it is genetically less active or inert.
viii. Both X and Y chromosome show homologous and non-homologous regions.
ix. Homologous regions show similar genes while non-homologous regions show dissimilar genes.

x. Crossing over occurs only between homologous regions of X and Y chromosomes.

xi. Non-homologous region of X chromosome is longer and contains more genes than that of non-
homologous region of Y chromosome.
xii. X-linked genes are present on non-homologous region of X-chromosome while Y linked genes are
present on non-homologous region of Y-chromosome.
X chromosome Y chromosome
i. It determines femaleness i. It determines maleness
ii. It is longer than Y chromosome ii. It is shortest than X chromosome
iii. It is submetacentric iii. It is acrocentric
iv. It is straight, elongated and rod like iv. It is hook like
v. It has longer non-homologous part v. It has non homologous part shorter
vi. It is present in both male and vi. It is present in males only
female.
vii. It shows straight inheritance vii. It shows straight inheritance
Linkage and Crossing Over:
Linkage:
1. Several genes are present on the chromosome.
2. As chromosomes are carriers of heredity, these genes have tendency to be inherited together.
Such genes are called linked genes.
 3. The tendency of two or more genes present on the same chromosomes that are inherited together
is known as linkage.
4. Linkage was discovered in plants by Bateson and Punnett and in animals by T. H. Morgan.
5. Linkage is of two kinds - complete and incomplete linkage:
I. Complete linkage: The linked genes which are closely located on the chromosome do not separate (no crossing
over) and inherit together.
a. They are called completely linked (strongly linked) genes and the phenomenon of their
inheritance is called complete linkage.
b. Thus, the parental traits are inherited in offsprings.
c. e.g. X chromosome of Drosophila males- show complete linkage.
II. Incomplete linkage: The linked genes which are distantly located on the same chromosome and have chances
of separation by crossing over, are known as incompletely linked (weakly linked) genes.
a. The phenomenon of their inheritance, is called incomplete linkage.
b. Thus, new traits occur in offsprings.
c. e.g. In Zea maize - colour and shape of grain show incomplete linkage.
Linkage Groups:
1. All the linked genes in a particular chromosome, constitute a linkage group.
2. The number of linkage groups of a particular species corresponds to its haploid number of
chromosomes.
3. e.g. Drosophila melanogaster has 4 linkage groups that correspond to the 4 pairs of chromosomes.
4. Garden pea has 7 linkage groups and 7 pairs of chromosomes.
Sex-linkage:
1. The transmission (inheritance) of X - linked and Y-linked genes from parents to offspring, is called
sex-linked inheritance. Sex-linked inheritance is of three types viz. X-linked, Y-linked and XY-
linked.
2. Sex linkage is of two kinds:
a. Complete sex linkage: It is exhibited by genes located on non-homologous regions of X and Y
chromosomes.
They inherit together because crossing over does not occur in this region.
Examples of X-linked traits are hemophilia, red-green colour blindness, myopia (near sightedness)
and for Y-linked are hypertrichosis, Ichthyosis, etc.
b. Incomplete sex linkage: It is exhibited by genes located on homologous regions of X and Y
chromosomes. They do not inherit together because crossing over occurs in this region.
Examples of X-Y linked traits are total colour blindness, nephritis, retinitis pigmentosa, etc.
Incomplete sex-linked gene Complete sex-
linked gene
i. These genes are located on i. These are located on non-
homologous region of X and Y homologous region of X and Y
chromosomes chromosomes.
ii.They do not inherit together. ii. They inherit together.
iii.Crossing over may occur in this iii. Crossing over does not occur
region. in this region.
iv.e.g. Nephritis, total colour iv. e.g. Red green Colour
blindness, Retinitis pigmentosa blindness, hemophilia, myopia.
Crossing Over:
1. Crossing over is a process that produces new combinations (recombination’s) of genes by
interchanging and exchanging of corresponding segments between non-sister chromatids of
homologous chromosomes.
2. It occurs during pachytene of prophase I of meiosis. The term crossing over was coined by Morgan.
3. The mechanism of crossing over consists four sequential steps such as synapsis, tetrad formation,
crossing over and terminalization.
4. The phenomenon of crossing over is universal and it is necessary for the natural selection,
because it increases the chances of variation.
Morgan’s Experiments showing linkage and crossing over: Morgan used Drosophila melanogaster
(fruit fly) for his experiments because-
a. Drosophila can easily be cultured in laboratory.
b. Its life span is short, about two weeks. Moreover, it has high rate of reproduction.
Morgan carried out several dihybrid cross experiments in fruit fly to study genes that are sex-linked.
The crosses were similar to dihybrid crosses, as carried out by Mendel in Pea.
For example, Morgan and his group crossed yellow-bodied, white eyed female to the wild type with brown-
bodied, red eyed males and intercrossed their F1 progeny.

a. He observed that the two genes did not segregate independently of each other and F2 ratio
is not same as to dihybrid cross 9:3:3:1 ratio.
b. Morgan and his group knew that the genes were located on X chromosome and stated that
when two genes in a dihybrid cross are situated on the same chromosome, then the
proportion of parental combination is much higher than non-parental type. This occurs due
to physical association or linkage of the two genes. He also found that, when genes are
grouped on the same chromosome, some genes are strongly linked.
c. They show very few recombination’s (1.3 %).
d. When genes are loosely linked i.e. present far away from each other on chromosome, they
show more (higher) recombination’s (37.2 %).
e. For example, the genes for yellow body and white eye were strongly linked and showed
only 1.3 percent recombination (in cross-I).
f. White bodied and miniature wings showed 37.2 percent recombination (in cross-II).
g. Cross I show crossing over between genes y and w. Cross II shows crossing over between
genes white (w) and miniature wing (m). Here dominant wild type alleles are represented
with (+) sign.
Autosomal Inheritance:
1. Human somatic (2n) cell contains 23 pairs of chromosomes.
2. They can be divided functionally as autosomes and sex chromosomes.
 3. A single pair of chromosomes is involved in sex determination and remaining 22 pairs are called
autosomes.
4. Autosomes control a variety of traits other than sex.
5. These traits are called autosome linked traits. Transmission of body characters other than the sex-
linked traits from parents to their offsprings through autosomes, is called autosomal inheritance.
6. Some characters are influenced by dominant genes while some other are by recessive genes,
present on autosomes.
7. For example, - Autosomal dominant traits like Widow’s peak and Huntington’s disease, etc.
8. Autosomal recessive traits like Phenyl ketonuria (PKU), Cystic fibrosis and Sickle cell anaemia.
a. Widow’s peak:
a. A prominent “V” shaped hairline on forehead is described as widow’s peak. It is determined by
autosomal dominant gene.
b. Widow’s peak occurs in homozygous dominant (WW) and also heterozygous (Ww) individuals.
c. Individuals with homozygous recessive (ww) genotype have a straight hair line (no widows peak).
Both males and females have equal chance of inheritance.

b. Phenylketonuria (PKU): -
a. It is an inborn metabolic disorder caused due to recessive autosomal genes.
b. When recessive genes are present in homozygous condition, phenylalanine hydroxylase enzyme
is not produced.
c. This enzyme is essential for conversion of amino acid phenylalanine into tyrosine.
d. Due to absence of this enzyme, phenylalanine is not converted into tyrosine.
e. Hence, phenylalanine and its derivatives are accumulated in blood and cerebrospinal fluid (CSF).
f. It affects development of brain and causes mental retardation. Excess phenylalanine is excreted
in urine; hence this disease is called phenylketonuria.
g. Autosomal recessive traits appear in both sexes with equal frequency. These traits tend to skip
generations.
Sex Linked Inheritance:
1. Genes located on non-homologous region of sex chromosomes, are called sex-linked genes.
2. The traits that are determined by sex linked genes, are called sex-linked traits.
3. The inheritance of sex-linked genes from parents to their offsprings, is called sex linked
inheritance.
4. There are two types of sex-linked genes -a. X-linked genes
b. Y-linked genes.
a. X-linked (sex linked) genes:
1. The X linked genes are located on non-homologous region of X chromosome and these
gene do not have corresponding alleles on Y chromosome.
2. Female has two X chromosomes. In female two recessive sex-linked genes are required for
expression of sex-linked traits.
3. If one X chromosome carries a recessive gene for sex-linked trait (defect) its effect is suppressed
by the dominant gene present on another X chromosome.
4. The females with one recessive gene are carriers. The carrier female is physically normal as she
does not suffer from the disease (disorder).
5. Male has only one X-chromosome. If X chromosome carries X-linked recessive gene for sex linked
trait, then it is expressed phenotypically, because there is no dominant gene on Y chromosome to
suppress its effect.
 Therefore, sex-linked / X-linked traits appear more frequently in males than in the
females. Examples of X-linked traits include hemophilia, colour blindness, night blindness,
myopia, muscular dystrophy, etc.

b. Y-linked (Holandric) genes:

1. Genes located on non-homologous region of Y chromosome, are called Y linked genes.
2. The Y-linked genes are inherited directly from male to male.
3. In man, the Y-linked genes such as hypertrichosis is responsible for excessive development of hair
on pinna of ear.
4. This character is transmitted directly from father to son.
Colour blindness:
Colour blindness is X-linked recessive disorder where person is unable to distinguish between red and
green colours as both the colours appear grey.
1. It is caused due to recessive X-linked genes (XC) which prevents formation of colour sensitive
cells, the cones, in the retina of eye.
2. The homozygous recessive females (XcXc) and homozygous recessive male (XcY) are unable to
distinguish between red and green colours.
3. The frequency of colour blind women is much less than colour blind men.
4. Dominant X linked gene (XC) is necessary for formation of colour sensitive cells in the retina of
eye.
5. Thus, genotypes of male and female individuals can be represented as follows-

The inheritance of colorblindness can be studied in the following two types of marriages: -
1. Marriage between colour blind male with normal female, will produce normal vision male and female
offspring in F1. The sons have normal vision but daughter will be carrier for the disease.

2. Marriage between carrier female (daughter) and normal male will produce female offsprings
with normal vision but half of them will be carriers for the disease. Half of male offsprings will be normal
while remaining half will be colour blind.
 From above example, it is clear that the X linked recessive gene for colour blindness is inherited
from colorblind father to his grandson through his daughter. This type of inheritance is called as cris-
cross inheritance.
Hemophilia (Bleeder’s disease):
1. Hemophilia is X-linked recessive disorder in which blood fails to clot or coagulates very slowly.
2. The genes for normal clotting are dominant over the recessive genes for hemophilia.
3. The person having recessive gene for hemophilia is deficient in clotting factors (VIII or IX) in blood.
4. Even minor injuries cause continuous bleeding; hence hemophilia is also called as bleeder’s
disease.
5. The recessive gene for hemophilia is located on non-homologous region of X chromosome.
6. As there is no corresponding allele on Y chromosome to suppress its expression, so men suffer
from this disease.
7. Women suffers only when both X chromosomes have recessive genes (alleles).
8. The genotype of male and female individuals can be represented as follow-

Like colour blindness, hemophilia also shows crisscross inheritance.

The inheritance of hemophilia can be studied with the help of following examples
- 1. Marriage between the Hemophilic male and normal female.
2. Marriage between carrier female (daughter) and normal male.

Hemophilia is also referred as “The royal disease”, because it affected the royal families of
England, Germany, Russia and Spain in the 19th and 20th centuries.
Queen Victoria of England, who ruled from 1837-1901, was believed to have been the carrier of
hemophilia. She passed the trait on to her three of nine children.
Sex Determination:
The mechanism by which sex is expressed is termed as sex determination.
The term sex refers to sexual phenotype. In some species, both male and female reproductive
organs are present in same organism. It is described as bisexual or hermaphrodite or monoecious.
On the other hand, some species in which the organism has either male or female reproductive
organs, is said to be dioecious or unisexual. Humans are dioecious.
German biologist, Henking in 1891, while studying spermatogenesis of the squash bug (Anasa
tristis), found a specific structure and noted that 50% of sperms receive this specific structure while other
50% sperm do not receive this specific structure.
Henking gave a name to this structure as the x-body but he could not explain its role in sex
determination.
Further investigations by other scientists led to conclusion that the “x-body” of Henking was a
chromosome and gave the name ‘X-Chromosome’.
a. Sex Determination in human beings:
1. The chromosomal mechanism of sex determination in human beings is XX-XY type.
2. In human beings, the nucleus of each somatic cell contains 46 chromosomes or 23 pairs of
chromosomes.
3. Out of these, 22 pairs are autosomes and one pair of sex chromosomes.
4. Human female has a pair of XX, homomorphic sex chromosomes while male has XY,
heteromorphic sex chromosomes.
5. Thus, genotype of: Female = 44 Autosomes + XX
6. Male = 44 Autosomes + XY
7. During gamete formation in male, the diploid germ cells in testis undergo spermatogenesis to
produce two types of haploid sperms, 50% sperms contain 22 autosomes and X chromosome
while, 50% sperms contain 22 autosomes and Y chromosome.
8. In Female, the diploid germ cells in ovaries undergo oogenesis to produce only one type of egg.
All eggs contain 22 autosomes and X chromosome.
9. Thus, human male is heterogametic and female is homogametic.
10. If sperm containing X chromosome fertilizes egg (ovum), then diploid zygote is formed, that grows
into a female child.
11. If sperm containing Y chromosome fertilizes the egg, then diploid zygote is formed that grows into
a male child.
This indicates that the sex of a child depends on the type of sperm fertilizing the egg and
hence the father is responsible for determination of sex of child and not the mother. Due to
lack of knowledge, women are often blamed for giving birth to female child.
Sex Determination in birds:
1. In birds, the chromosomal mechanism of sex determination is ZW-ZZ type.
2. In this type females are heterogametic and produce two types of eggs; 50% eggs carry Z-
chromosome, while 50% eggs carry W- chromosome.
3. Males are homogametic and produce one type of sperms. Each sperm carries a Z- chromosome.
Thus, sex of individual depends on the kind of egg (ova) fertilized by the sperm.

Environmental sex determination-

1. In Bonellia viridis, the environmental factors determine the sex of individual.
2. The sex of worm Bonellia viridis depends on which location the Bonellia larva gets settled.
3. The marine female Bonellia worm has about 10 cm long body. She has a proboscis that can
extend over a meter in length.
4. If a Bonellia larva settles on the seafloor, it becomes a female.
5. However, when, a larva lands on a female’s proboscis and enters the female’s mouth, it
migrates into her uterus and differentiates into a male.
6. Male lives as parasite in uterus of female fertilizing her eggs.
7. Thus, if a larva lands on seafloor, it becomes female and if it settles on a proboscis, it
becomes male.
c. Sex Determination in honey bees:
1. In honey bees, chromosomal mechanism of sex determination is haplo-diploid type.
2. In this type, sex of individual is determined by the number of set of chromosomes received.
3. Females are diploid (2n=32) and males are haploid (n=16).
4. The female produces haploid eggs (n=16) by meiosis and male produces haploid sperms (n=16)
by mitosis.
5. If the egg is fertilized by sperm, the zygote develops into a diploid female (2n=32) (queen and
worker) and unfertilized egg develops into haploid male (n=16) (Drone) by way of parthenogenesis.
6. The diploid female gets differentiated into either worker or queen depending on the food they
consume during their development.
7. Diploid larvae which get royal jelly as food develops into queen (fertile female) and other develops
into workers (sterile females).

Genetic Disorders:
Genetic Disorders are broadly grouped into two categories as, Mendelian disorders and
chromosomal disorders,
Mendelian disorders are mainly caused due to alteration or mutation in the gene. e.g. thalassemia,
sickle-cell anaemia, colorblindness, haemophilia, phenylketonuria, etc.
chromosomal disorders are caused due to absence or excess of one or more chromosomes or
their abnormal arrangement. E.g., Down’s syndrome, Turner’s syndrome, Klinefelter’s syndrome etc.
Thalassemia:
1. Thalassemia is an autosomal, inherited recessive disease.
2. Haemoglobin molecule is made of four polypeptide chains- 2 alpha (a) and 2 beta (b) chains.
3. The synthesis of alpha chains is controlled by two closely linked genes (HBA1 and HBA2) on
chromosome 16
4. The synthesis of beta chain is controlled by a single gene (HBB) on chromosome 11.
5. Depending upon which chain of haemoglobin is affected, thalassemia is classified as alpha-
thalassemia and beta-thalassemia.
6. It is caused due to deletion or mutation of gene which codes for alpha (a) and beta (b) globin chains
that result in abnormal synthesis of haemoglobin.
7. In Thalassemia, person shows symptoms like anaemia, pale yellow skin, change in size and shape
of RBCs, slow growth and development, dark urine, etc.
8. Massive blood transfusion is needed to these patients.
9. Thalassemia differs from sickle-cell anaemia.
10. Thalassemia is a qualitative problem of synthesizing few globin molecule, while the sickle cell
anaemia is a qualitative problem of synthesizing an incorrectly functional globin.
Down’s Syndrome (21st trisomy):
Down’s syndrome is named after the physician John Langdon Down who first described
this autosomal chromosomal disorder in 1866.
 Down’s Syndrome
1. This Syndrome is caused due to an extra copy of chromosome number 21st chromosome
hence it is also known as trisomy of 21st chromosome.
2. It shows presence of three copies of 21st chromosome instead of homologous pair.
3. These individuals will have 47 chromosomes instead of the normal number 46.
4. 21st Trisomy occurs due to non-disjunction or failure of separation of chromosomes
(autosomes) during gamete formation (during anaphase).
5. The incidence of non-disjunction is distinctly higher in mothers who are over 45 years old.
6. These patients show mild or moderate mental retardation and poor skeletal development.
7. Distinct facial features like –
a. small head, ears and mouth,
b. face is typically flat and rounded with flat nose,
c. open mouth and protruding tongue,
d. eyes slant up and out with internal epicanthal folds,
e. flat hands and stubby fingers and palm is broad with single palmer crease.

Turner’s Syndrome: (X monosomy / XO females)

It was first described by H.H. Turner.
1. It is sex chromosomal disorder caused due to non-disjunction of chromosome during gamete
formation.
2. Individual born with Turner’s syndrome has 44 autosomes with XO.
3. They are phenotypically female.
4. They have a short stature (height) and webbed neck, lower posterior hair line, broad shield-shaped
chest, poorly developed ovaries and breast, and low intelligence.
Klinefelter’s syndrome (XXY males):
1. It is chromosomal disorder caused due to extra X chromosome in males.
2. Thus, genotype of individuals is 44 + XXY.
3. They are described as feminized males.
4. Extra chromosome is a result of non-disjunction of X-chromosome during meiosis.
5. Individual is male and has over all masculine development.
6. Voice pitch is harsh and have under developed testis.
7. They are tall with long arms, feminine development (development of breast i.e. Gynecomastia)
and no spermatogenesis,
8. therefore, individuals are sterile
Thank You …………………