GENETICS

By :Dr.Drona pokhrel
• Genetics is the science of study of heredity and and variations .

• Heredity (like begets like ):deals with transmission of characters from

parents to offsprings .

• Inheritance :process by which characters or traits pass from one

generation to another .

• Character :feature of individual eg :stem height

• Traits :an inherited character and its detectable variant eg : tall or dwarf.
Variations
• Variations :Degree of differences in the progeny and between progeny and
the parents .
• Germinal variations : heritable variations due to change in germinal cells
.occurs due to mutations and crossing over .
• Somatic variations :non heritable variations due to change in somatic cells
.
• Continuous variations :minor variations in offspring's ,which are expressed
in generations to generations .

• Discontinous variations :sudden heritable changes ,expressed several

generations .
• Father of genetics :Gregor Mendal
• Father of modern genetics /father of animal
genetics : William bateson

• Father of experimental genetics /drosophila

Genetics : T.H morgan
• Father of Actinobiology(radiation is used to create mutation) :H.J
muller
• Best study material for principle of genetics : Drosophila
• Dorsophila of plant kingdom :Neurospora

• Johannson coined the term:

Some
terminology in
genetics
• Gene :segments of DNA
which can produce certain
character .

• Cistron (synonym for

gene):functional unit of
DNA,which is capable of
synthesizing a
polypepetide chain
• Genome :complete set of
chromosomes or genes in haploid
.single genome is present in
haploid and two genomes are
present in diploid .
• Allelles /allelomorphs: alternate
forms of gene,present on identical
locus of chromososmes .usually
one gene has two locus
(biallelesim)
• Genotype : Genetic constitution of an individual with regard to one or more
characters irrespective of whether genes are expressed or not.

• Phenotype :The observable characteristics of an individual.

• Gene pool :The total variety of genes or alleles present in sexually reproducing
populations .

• Gene frequency :the proportion of different alleles of gene in population.

• Gene locus :the region of the chromosome representing a single gene position.
• Heterozygous :contains two contrasting character on its homologous chromosomes

• Homozygous :having two similar alleles.

• Hemizygous :organism having half of alleles .

• Eugenics :improvement of human race by application of genetics or change
in composition or organisms.

• Euphenics :the improvement of human race/phenotypic improvement by

application of symptomatic treatment of genetic disease by genetic
engineering .

• Euthenics :improvement of human race by providing better environmental

conditions like better nutrition ,better climatic conditions .
Central dogma
Mendal law of inheritance
• Johann mendal was born in silisian village in Austria .

• Mendal selected Pisum sativum ( garden pea ,edible pea ) having

7pairs contrasting traits for experiment of hybridizations .

• Pisum sativum (2n =14): it took 8 years to complete the experiment

on it .
Rediscovery of Mendal’s work
• Hugo de vries

• Carls correns

• Tschermark :

• His work are republished in “flora”

 Reasons for choosing
pea plant
• Pure varieties of pea are available .
• Plant is self pollinated but can be crossed manually .
• Annual plant with short life span gives result in 3
months .
• Shows no of easily detectable contrasting characters .
• Produce large amount of seed and grown easily
• F1 and f2 hybrids are fertile .
7 pairs of
contrasting
characters
7 traits are in 4 different chromosome
• Chromosomes :
1: FirSt C:flower and seed
colour
4: max
characters
5 :pod colour

7: seed
shape
Reasons for
Mendal’s success
• Only select pure breeding
varieties
• Characters he considered were
present on different
chromosome so there is no
linkage .
• He took one or two traits at one
time for his breeding .
• He used statistical method and
law of probability .
Punnet square
• It is checker board used to show the results of cross between two
organism.
• Shows both genotypes and phenotypes of the progeny .
• Horizontal row :male gamete
• Vertical column:female gamete
Monohybrid
cross
Law of dominance
• In heterozygous individual or hybrids ,character is represented by two
contrasting factor called alleles.
• Out of two only one express its effect in the individual ,called
:dominant allele /factor
• Other allele doe snot express its effect in heterozygous individual
:recessive factor/allele.
• Its is conclusion of monohybrid cross .
• Incomplete dominance ,codominace are exception to this law.
• Phenomenon cannot be studied in haploid like
algae,fungi,bryophytes.
Law of segregation /law of purity of gametes
Mendal’s first law /universal law /law of non
mixing of gametes.
• Two factors of characters which stay together in F1 generation keep
their identity distinct, do not mix or blend but gets separated from
each other during gamete formation .
• Gametes can be paired in different offspring's as per the probability .
• Segregation occurs during anaphase I of meiosis I.
• Also conclusion of monohybrid cross .
• This law justifies that gametes never become hybrid.
Dihybrid cross
• Cross involving two pairs of contrasting characters simultaneously .
• The crossing of pure breeding plants with yellow Round (YYRR) and
Green Wrinkled seed (yyrr).
• F1 generation have :all Yellow rounded seed(YyRr).
• After selfing in F1 generation : 4 different phenotypes are produced .
• Phenotypic ratio : 9:3:3:1
• No of genotypes :9
• Genotypic ratio : 1:2:2:4:1:2:1:2:1(1:2:1:2:4:2:1:2:1)
Genotype ratio:
1:2:2:4:1:2:1:2:1
1:2:1:2:4:2:1:2:1
Results of dihybrid cross
• Ratio of recombinant to non recombinant :6:10/3:5
• No of offspring's with both traits dominant:9
• Genotypic ratio of both traits dominant : 1:2:2:4
• No of off springs having genotype as their parents :2
• Ratio of homozygous round yellow :1/16
• Ratio of homozygous green wrinkled :1/16
Law of independent assortment (2nd law)
• Two factors of each characters assort or separate independent of the
factors of other characters at the time of gamete formation and get
randomly re arranged in the offspring's producing both parental and
new combinations of traits .
• Can be studied by dihybrid cross .
• Exception to this law is linkage
• Recombination in dihybrid cross of Mendal is:Independent
assortment
• Recombination produced in linkage are due to : crossing over
Back cross
• Performed between :F1 generation with any of their parents .

• Done to increase the traits of parent .

Test cross

• Back cross of hybrid with recessive

parent .
• It is done to know whether the
individual is homozygous or
heterozygous for dominant
characters.
• Phenotypic ratio= genotypic ratio in test cross
• In monohybrid cross : 1: 1
• In dihybrid cross :1:1:1:1

Out cross :
• Cross between F1 hybrids and dominant parent .
• Used by animal breeders for production of pure line .
Reciprocal
cross

• Cross involving two types of

individual where male of one
type is crossed with female
of second type and vice
versa .
• Reciprocal cross are helpful
in studying sex linked
characters.
• Does not same ratio in
case of sex linked
inheritance ,cytoplasmic
and maternal inheritance
Q) Cross between hybrid tall with dwarf pea plant is
a)back cross b) self cross
c)test cross d) out cross .
Q) If Tall (T) is dominat over dwarf (t) and round seed R is dominant
over Wrinkled seeds(r),the genotype of true breeding tall plant with
wrinkled seeds would be
a)ttRr b)TTRR
c)TTrr d)tTRr
Calculations of genotype and phenotype
• Types of gamete produced from homozygous genotype :always one

• Types of gametes produced from heterozygous genotype :2*n(n=no of

heterozygous allele)

• No of zygotic combinations :4*n (n=no of heterozygous alleles )

• No of offspring's in F2 generations :4*n (n=no of heterozygous alleles
)

• Phenotypic ration in F2 generations :(3:1)*n(n=no of contrasting

allele)

• No of genotypes :3*n(n=no of contrasting allele)

Post Mendalian discoveries( blending
inheritance)
Bateson factors (Gene interactions) :

• Influence of alleles and nonalleles on the normal phenotypic

expression of gene.
• May be two types : intragenic(allelic) and intergenic( non allelic)
• Allelic : interaction between same alleles,alters the ratio 3:1
(monohybrid cross)
• Non allelic:interaction between two different allles .alters the ratio
9:3:3:1(dihybrid cross)
Allelic gene interaction
Incomplete dominance :
• Discovered by Carl correns in the flower of :Mirabilis jalapa(4 o clock
plant) and Antirrhinum majus(snap dragon or dog flower)
• In animal : eg:feather colour of Andalusian fowl.
• Incomplete ( partial or mosaic ) dominance is phenomenon where
none of two contrasting alleles or factors is dominant .
• Expression of character in F1 hybrid is intermediate or fine mixture of
the expression of two factors .
• In F2 generation : phenotype ratio and genotype ratio is similar: 1:2:1
Snapdragon
Q) Genotypic and phenotypic ratio are same in
a) Test cross b) incomplete dominance
c)co- dominance d) all of the above
Q)How many gametes are possible with genotype 0f AaBB?
a)AB and aB b)Aa and BB
c)A,a,B and B d)AB,Aa ,and ab
Co-Dominance
• Discovered by carls correns .
• Expression of both alleles in hybrid /heterozygote .
• Alleles do not show dominance –recessive relationship and are able
to express themselves independently when present together .
• Phenotype is different from either of homozygous genotypes.

• Eg :AB blood group

• Roan coat colour cattle
• Sickle cell Anemia
Lethal genes
• Genes which produce drastic phenotype sufficient to kill the bearer.
• Lethalism always expressed in homozygous condition either
dominant or recessive .
• Cuenot discovered lethal gene in animal :i.e mice coat colour .
• E.baurr discovered lethal gene in plant :Antirrhinum majaus
• phenotypic ratio =genotypic ratio and its modified to : 2:1 or 1:2.
• Common human lethal genes : retinoblastoma ,huntingtons
disease,sickle cell anemia ,tay sachs syndrome .
Dominant lethal gene
• Eg : mice coat colour :
• Homozyogous yellow dominat
Will die .
• Heterozyous will survive .
Recessive lethal gene
Sickle cell anemia :
• Gene mutation discovered by Neel &Beats.
• Glutamic acid is replaced by valine in
Position 6.
-HbA codes normal hemoglobin.
-HbS codes defective Hb
Multiple allelism
• Presence of more than two alleles of a gene .
• Multiple alleles are produced due to repeated mutation of the same
gene in different directions .
• All the multiple alleles occurs on the same gene locus of the same
chromosome .
• Multiple alleles express different alternatives of same characters .
• They may show co dominance ,dominance recessiveness ,or
intermediate dominance .
• Eg:ABO blood group in human ,coat colour of rabbit ,self
incompability in tobacco ,eye colour in drosophila .
ABO blood grouping in human
• ABO blood group is controlled by 3 alleles.

• I and I are dominant over I but shows codominace between them

,while I is recessive .
• Best donor is :O-ve and best recipient :AB+ve
• No of genotypes :6
• No of phenotype : 4
PLEOTROPISM OR PLEOTROPY
• Eg :sickle cell anemia : cause anemia ,provides immunity against
malaria ,change the shape of RBC

• Eye colour drosophila :

• In garden pea gene which control the flower colour also controls the
see coat colour .
Non Allelic Genetic Interactions
• Genetic interactions in between different alleles.
• Alters the dihybrid cross ratio (9:3:3:1).

• Interactions produce distinct phenotype different from normal .

• Interacting genes assort independently .

• Eg :epistasis ,supplementary genes,complementary genes,polygeneic
inheritance etc,
EPISTASIS
• Masking or suppression of the expression of one gene by another non
allelic gene.
• Epistatic gene : gene which supress the expression of non allelic gene
.
• Hypostatic gene :the gene which is supressed by the presence of non
allelic gene.
Dominant epistasis
• Dominant gene at one locus supressed the expression of another
gene at different locus regardless of its allelic conditions (dominant or
recessive .

• Modified dihybrid ratio: 12:3:1,with 3 phenotypes .

Eg : fruit colour of summer squash .
Recessive Epistasis
• Recessive homozygous genotype at one locus supress the expression
of non alleleic at another locus .

• Modified ratio will be : 9:3:4

• Eg : coat colour of mice

Supplementary genes
• Pair of non allelic genes one of which produce its effect
independently in the dominant state ,while dominant allele of second
gene is without any independent effect but able to modify former to
produce new trait .

• Modified ratio : 9:3:4

• Eg : seed coat colour of lablab
Complementary genes
• Non allelic genes which independently show similar effect but
produce new trait when present together in dominant form .
• Modified ratio :9:7
• Eg :flower colour of sweet pea (lytharus odoratus).
Qantitative and Qualitative inheritance
Qualiatative (monogenic inheritance):
• Single dominant gene influence a complete trait.

• Qantitative inheritance (polygenic inheritance ):

=Type of inheritance controlled by one or more gene in which
dominant alleles have cumulative effect with each other dominant
allele expressing a part or unit ,full trait being shown only when all
dominant alleles are present .
Polygenic inheritance
• Inheritance of character in which one character is controlled by many
genes and intensity of character depends upon the no of dominant
allele .
• Nilsson_Ehle reported polygenic inheritance in the kernel colour of
wheat .
• Kernel colour of wheat is controlled by two polygenes .
Skin colour of human (polygenic inheritance)
• Devenport found skin colour is controlled by three polygenes .
• Polygenes :Aa,Bb and Cc
• Each dominant gene gives unit dose of pigmentation .

• Maximum pigmentation :AABBCC (Negro)

• Minimum pigmentation :aabbcc( white)

• Albinism :absence of melanin pigment ,lack of tyrosinase enzyme .

• Possibility of albino is :0.25 (AA normal skin ,Aa normal skin ,aa albino)
Linkage
• Certain genes staying together during inheritance through generation
without change or separate as they are present on same
chromosome .
• Seen by Bateson and punnet in lytharus odoratus .
• Proposed the coupling and repulsion theory .
• Strength of linkage is determined by distance between two genes.
• Genes involved in linkage are called linked genes.
• No of linkage group is equal to haploid no of chromosome .
• A pair of genes said to be linked if their recombination frequency in
test cross is lower than expected value of 50%.
• Exception to linkage : independent assortment
• ex:
• Pisum sativum : 2n =14 ,no of linkage group is :7
• In drosophila :2n =8,no of linkage group is :4
• In human beings : male : 22+XY=22 pair +1+1, no of linkage group =24
• In female human :22+xx=22+1 pair ,no of linkage group =23
Linkage
Types of linkage
Complete linkage
• linkage in which gene always show parental combination .
• It never shows new combination ,genes are very close on
chromosome .
Incomplete linkage
• New combination appear along with the parental combination .
• New combination due to crossing over .
Sex linked inheritance(x linked inheritance)
• Is the transmission of characters and their determining genes along
with sex determining genes which are borne on sex chromosomes .
• T.H morgan discovered sex linked inheritance in eye colour of
drosophila melanogaster ( fruit fly)
• X chromosomes which is common on male and female carries
number of genes .
• Common human x linked disorders are : hemophilia and colour
blindness .
Characteristics of sex linked inheritance
• It is a Criss cross inheritance .(father pass traits to grand son through
his daughter and mother transfer traits to her grand daughter
through her son )

• Mother passes the alleles of sex linked traits to both son and
daughter.
• Majority of sex linked traits are recessive .
• Sex linked traits are more apparent in males then females.
• Female generally function as carriers because recessive genes can
express themselves only in homozygous state .
Haemophilia
• Also known as bleeders disease /Royal disease .
• Genetic disorder in which there is increased in clotting time.
• Haemophillia A: deficiency of clotting factor VIII.
• Haemophillia B :deficiency of clotting factor :IX /also known as
Christmas disease .
• Sex/X linked inheritance .
• Homozygous recessive female is haemophilic and heterozygous
female is carriers. Male are sufferers .
• Normal women and haemophillic man: all daughters become carrier
and sons become normal

• Carrier women and normal man :

• Carrier women and haemophilic man :
Colour blindness
• Genetic disorder in which man cannot differentiate between red and
green colour and appears grey.
• Most common x linked inheritance .
• Red colour blindness : protanopia
• Green colour blindness : deuteranopia
• Normal women and colour blind man :

• Carrier women and normal man :

• Carrier women and colour blind man :
• Colour blind women and normal man :

• Colour blind women and colourblind man :

Y linked inheritance
• Y chromosomes also contain few genes which express themselves
phenotypically .
• Genes present on the non homologous section of Y chromosomes
pass directly from male to male ( father to son ): Holandaric genes .

• Eg hypertrichosis
XY linked inheritance
• Transfer of characters from sex linked genes present on homologus
region of both X and Y chromosomes is XY linked inheritance
• Ex:xeroderma pigmentosa.
• Diagynic : male to male through female (father –daughter-grandson)

• Diaandric :mother to granddaughter through son .(female to female

through male )

• Holoandric :male to male (father to son directly )

Mutations
• Sudden /drastic changes in phenotype due to changes in composition
of structure and number of genetic makeup .
• Hugo de vries : discovered mutation in :Oenothera lamarckiana
:gave chromosomal theory of mutation .
:Term mutation
• Scientifically study : by T.H Morgan on Drosophilla

• Mutation by using x ray :H.J Muller

• Mutations can occurs in : Gametic ,somatic haploid ,diploid ,polyploid cells

• Mutations are generally : recessive and lethal or harmfull(99%) .expressed in

homozygous recessive .
• Some are useful as well ,helps in improvement of crops variety.

• In haploids both recessive and dominant mutations can be expressed .

• Mutation can cause allelic variations .

• Ultimate (root) source of variation : mutations

• Major source of variations is : crossing over (sexual reproduction)

Frequency of mutations : very low 1*10
• Forward mutations :if wild type change to new

• Backward mutations :if mutated type changes wild

• Mutations may be : natural or artificial

spontaneous(without known cause ) or induced

(with known cause ,using certain mutagens)
Mutagens :that cause mutagens
Physical :
• Temperature :
• Radiations : ionizing radiations

Non ionizing
radiations
Chemical mutagens
Base analogues:
structurally similar to the nitrogen bases,and miss pair with them .
:ex;5 BU(5 bromo uracil analogue with thymine)
: 2 AP(2 amino purine analogue with purine base)

Alkylating agents :
Ex:Methyl and Ethyl methane sulphonate (MMS &EMS)
• Maleic hydrazide .
Nitrous acid :
Acridines dye
Types of mutations
• Based on the involvement of genetic segments mutations are : gene
or point mutations and chromosomal mutations
GENE MUTATIONS /POINT MUTATIONS .
• Change in the level of nucleotides .
• Muton :unit of mutation
Types of gene mutations
• Frameshift mutations and substitution mutations .
Frame shift mutations :
• When maximum or all codons of gene are changed .
• Occurs due to either addition ( insertion) and deletion of one or more
nitrogen bases.
• Most dangerous type of mutations since it causes changes in
successive polypeptide chain
Frameshift mutations
Substitution mutations
• Substitution of nitrogen base by another base .
• Transition : purine by purine or pyrimidine by pyrimidine
• Transversion :purine by pyrimidine
and vice versa
Chromosomal mutations /aberration
• Due to change in structure of chromosome
1. Deficiency :deletion of terminal segment.

2. Deletion :loss of intercalary segment

of chromosome

• Inversions :breaking at certain points

And rotated by 180degree and rearranged
• Duplications :repetition of same segment more than once .

• Translocation :separation of chromosome segment and reunion with

the non sister chromatids (non homologous chromosome )

• Reciprocal translocations: translocation in which both chromosomal

segments are translocated (interchnegd ) each other .its commonly
studied translocation .its is also known as illegitimate crossing over.
Genomatic mutations (numerical change )
Autopolyploidy
• Multiplication of the homologous chromosomes.
• Autotriploid :AAA
• Ex :banana ,grapes

• Autotetraploid :AAAA
Allopolyploids
• Multiplications of non homologous chromosomes .
• Eg Triticale ,Raphanobrassica.
• Triticale is first man made cereal produced from cross
between(wheat)Triticum aestivum and rye (Secale cereale)
• Rhaphanobrassica :
Aneuploidy
• Change in individual no of chromososme .
Some Genetic diseases .
Sex chromosomal abnormalities

• Klinefelter's syndrome :44+XXY ,

47 chromosomes

• Superfemale (47-XXX): abnormal sexual development ,mental retardation.

• Supermale (47-XYY):abnormal height ,antisocial activities,mental

retardation .
• Turner syndrome:
Autosomal chromosomal abnormalities
• Down syndrome :due to trisomy of 21st chromosomes.
• Due to nondisjunction
• Cri du chat syndrome : deletion of short arm of chromo
Some no 5 .
• Patau syndrome : due to trisomy of chromosome 13
• Edward syndrome :due to trisomy of chromosome 18
• Albinism :autosomal recessive mutation .lack of tyrosinase enzyme
,lack of melanin pigment

• Alkaptonuria :autosomal recessive mutation in gene, deficiency of

enzyme homoginistic acid oxidase,patient produce large amount of
homogenistic acid in urine which turns urine black when exposed to
light
• Phenylketonuria :autosomal recessive mutation. Deficiency of
enzyme phenylalanine hydroxylase that converts phenylalanne into
tyrosine .child unable to walk ,mental retardation.