What is genetics?

It is the study of how genes transfer from parent to offspring. There are two parts in study of genetics one-
part deals with the transfer of characters which is referred to as heredity. And the second part deals with
variations.
Chromosomes: carriers of heredity
 Karyotyping: the chromosomesare of differentsizesand shapes. The comparative study of different
sizes and arrangement of chromosomes is called karyotyping.
 For any given organism the number of chromosomes is constant.
 The chromosomes are found in pairs. An organism receives one copy of a chromosome from each
parent.
 Homologous chromosomes are similar chromosomes from each parent which have similarstructureand
function.
 For example, is humans have 23 chromosomes which have come from each parent have 46 copies of
chromosomes of all together.
Autosomes and sex chromosomes:
 There are 2 types of chromosomes autosomes and sex chromosomes.
 In humans the female parent provides withX chromosomes. Female have 2 copies of the X
chromosome.
 In case of males, they have one copy of X chromosome and another copy of Y chromosome.
 The Y chromosome is smaller in size as compared to X chromosomes.
 Autosomes are responsible for general or somatic characters like height, color etc.
 Sex chromosomes are responsible for determining the sex of the baby.
3.5 SEX DETERMINATION
 There are two possible genders males and females. Which are determined depending on the type of
sex chromosomes they receive from parents
 The egg of female has only a single type of gamete which is the X chromosome.
 The sperms on the contrary are composed of 2 different types of chromosomes. Half of the sperms
have X chromosomes and the other half have Y chromosome.
 If the fusion between the egg containg X chromosome with a sperm containg y chromosome is carried
out then male offspring or sons are produced
 If the fusion between the egg containg X chromosome with a sperm containg X chromosome is carried
out then female offspring or sons are produced.
 The sex of the baby is dependent on which sperm fertilizes the egg.
3.6Chromosomes: carriers of Genes.
 Genes are the structural and functional unit of life. They are specific segments of DNA
 They are carriers of information from one generation to the next.
 The genome is composed of genes and intergenic regions.
 Current studies suggest that human have about 19000 genes. Of which maximum are present in on
chromosome no.1 and the least no are present on Y chromosome.
3.7 Genes and alleles
 Alternative form of a gene is referred to as alleles. It is present on the same locus/position in
homologues chromosomes.
 Alleles code for variations in characters encoded by genes.
 These variations are responsible for a character in an organism
 Due to such variations in characters an allele can be classified as either dominant allele or recessive
allele.
 Dominant allele: The character which is expressed in the F1 Generation irrespective of presence or
absence of another allele is called dominant characters.
 Recessive allele: the form of gene whose expression is masked by dominant gene is termed as
recessive.
Genotype and Phenotype
 Genotype: it is kind of genes an organism possesses.
 Phenotype: the expressed genes provide the organisms with a unique form.
 Heterozygous dominant: they have two different types of alleles e.g., Rr
 Homozygous dominant: they have same type of Allele e.g., RR
 Recessive alleles are expressed only in homozygous form
3.9 how to read a pedigree

 Males are denoted by Y



 Females are denoted by X

 Solid or filled circle indicate affected organism

 If offspring has recessive trait, then at least one parent should also have same recessive allele
 recessive traitis expressed in homozygous condition only so one copy of each recessive allele should
be received from both the parents.
 In case of heterozygous offspring one dominant allele and one recessive allele is obtained from either
parent.
Sex linked inheritance
 It is the genetic disease caused due to presence of gene only on sex chromosomes
 Examples include hemophilia and color blindness
 Its cause is inheriting a recessive allele on the X Chromosome
 Hemophilia is one such disease.in it the blood is prevented from clotting in case of wound or
injury
 Sex linked diseases are passed in crisscross manner that is from father to daughter (may be
carrier/affected) to grandson who is affected
 CASE 1: when Normal mother and color-blind father have children all the daughter will be carrier (XX°)
as they receive X° from affected father and sons are normal
 CASE 2: when carrier mother and normal father have children, they might have normal daughter,
normal son, carrier daughter (XX°) and color-blind son (X°Y) as they receive X° from affected mother.
3.11 Mendel’s experiment on an experiment
 Mendel performed his inheritance experiment on garden peas
 He selected the plant for the following reason;
 multiple characters can be studied at the same time.
 Pure lines can be established with ease
 Self-pollination and cross pollination can be easily performed.
 Less lifespan enables to obtain many generations in less time.
 Mendel studied the pea plant considering one character at a time (monohybrid cross). after that he also
described the dihybrid cross.
The following characters were studied by Mendel: flower color, seed color, seed shape, pod color, pod
shape, flower position, plant height.

Monohybrid cross:
 2 contrasting characters are crossed.
 For example, consider a tall plant (TT) crossed with (tt).
 The resulting offspring will have genotype Tt and phenotype will be tall.
 If this heterozygous plant is selfed the resulting phenotype and genotype will be follows;

· · T · t

· T · TT (tall) · Tt (tall)

· t · Tt (tall) · tt (dwarf)

Dihybrid cross
  When two characters are considered while crossing two organisms, then such a cross is
known as a dihybrid cross.
 The ratio of characters, arising out of this cross, at F2 generation is called the dihybrid ratio.
 E.g., If a plant with round and green pea is crossed with a plant with wrinkled and yellow pea,
 The first generation plants would all have round and green peas.
 On crossing the same for an F2 generation, we would observe four combinations of
characters in the ratio of 9:3:3:1.
 Thus, 9:3:3:1 is the dihybrid ratio.

3.12 Mendel’s laws of inheritance:

1.) Concept of dominance:
 This law states that if there are 2 different alleles then only one of the alleles will be expressed. This is
the dominant character whereas the other contrasting character is recessive.
2.) Law of segregation or law of purity of gametes:
 During the process of gamete formation,the factors separate independently. They do not get mixed.
Hence this law is called law of purity of gametes.
3.) Law of independent assortment:
 When 2 gametes are formed the alleles are separated independently of each other.
Application of Mendel’s Laws:
 It gives account of how the characters are expressed in hybrid plants and their pattern of inheritance.
 It is helpful in plant and animal breeding
 Hybridization can be used to make plants and crops with better quality.
 Mutations:
 Mutations can cause change in structure of gene or sequence of DNA
 These changes result in alteration in gene function.

 One example of disease caused due to mutation is sickle cellanemia.in this disease a single
nucleotide change causes the shape of RBCs to become sickle shaded or deformed.
 Another source of mutation in DNA is radioactive radiations. These radiations alter the gene
structure and their effect can be seen up to various generations.
 One such example of effect of radiation is seen in Japan after the nuclear attack during World
War II.

Homologous organs are those which have a similar structure but different
function.

 Wings of birds and forelimbs of mammals: have similar structures but are modified to suit
different functions
 A tendril of pea plant and spine of barberry plant: both are modified leaves, but perform
different functions.
Analogous organs are those which have a similar function but a different
structure and origin too.

 Wings of bats, birds and wings of insects: both are used for flying, but structurally are very
different
 Leaves of opuntia and peepal: both perform photosynthesis, but leaves of Opuntia are
modified stems whereas peepal leaves are normal leaves.