MP PSC ASSISTANT PROFESSOR
Zoology : 2024
M.S.
BIOLOGY Genetics Online
classes
available
Lecture-1
Terms and terminology
Mahendra Sir
M.S. BIOLOGY App and online classes
(online classes and test series for MP PSC AP Zoology)
For online class- 8318917792
Terms and terminology used in genetics
▪ Clone • Genotype
▪ Variation • Phenotype
▪ Individual • Sister and non sister chromatids
▪ Offspring • Homologous and heterologous
chromosome
▪ Gamets
▪ Gene
▪ Alleles
▪ Monohybrid cross
▪ Dihybrid cross
▪ Dominant and recessive character
▪ Homozygous and heterozygous
▪ F1 generation and self cross Note: Try to define itself and prepare a short notes on
these terms with suitable representation.
Incomplete dominance – Codominance-
➢ Both parental gene show their effect
➢Fi show intermediate character of both
simultaneously in fi generation
parents ➢ Phenotype of hybrid resemble both the
➢Phenotypic and genotypic ratio are same parents
➢New phenotype is formed ➢ New phenotype is not formed
➢Ex.- red white colour flower in snapdragon ➢ Ex.- AB blood group of human
Variation in chromosome number –
➢ Euploidy- Complete set of chromosome of an organism
➢ Aneuploidy- abnormalities in chromosome number either in complete set or single
➢Generation of aneuploidy- due to non disjunction in meiosis I or II
➢Type of aneuploidy-
➢Nullisomy- (2N-2)
➢Monosomy- (2N-1)
➢Trisomy- (2N+1)
➢Tetrasomy- (2N+2) non disjunction
➢Patau syndrome (trisomy : chromosome 13)
Autosome
➢Edward syndrome (trisomy : chromosome 18) chromosome
➢Down syndrome (trisomy : chromosome 21)
➢Turner syndrome ( monosomy in X chromosome: XO genotype) in female.
➢Klinefelter syndrome ( trisomy/ tetrasomy in X chromosome : XXY/XXYY)
in male.
➢Variation in chromosomal structure-
➢Types-
➢Deletion- change in amount of DNA (decreases)
➢Duplication – change in amount of DNA (increases)
➢Inversion- change in orientation of segment of DNA at 180* angle
➢Translocation- change in location of segment of DNA
Non mendelian inheritance:- ➢ Can be separated by CsCl density gradient
centrifugation
➢ Size of genome-
➢ In animals - < 20kb
➢ In yeast – 80kb to 80000bp
➢ In plants- 100000 to 2 million bp
➢Origin of mitochondria and chloroplast-
➢Organisation of extranuclear genome-
➢Mitochondrial genome –
➢Circular double-stranded supercoiled
➢In some protozoans and fungi- linear genome
➢No histone proteins are associated with mt DNA
➢GC content differs from nuclear DNA
➢Genome replication-
➢Semiconservative, specific DNA polymerase
➢Mt DNA replication process occurs throughout cell cycle
➢Two strands of mt DNA have different density, they called as H and L
strand
Model for mt DNA replication-: ( D loop model)
➢Synthesis of H strand started at ori to form D loop
➢As new H strand extended about half , initiation of L strand at another ori
➢Both strands are completed by continous replication
➢Transcription of mt DNA -:
➢Mt DNA contains genes of –t RNA , rRNA, cytochrome oxidase, NADH
dehydrogenase and ATPase
➢Other components found in mitochondria are encoded by nuclear genome.
➢Mitochondrial protein coding genes are found on both strand
➢Mt DNA have no 5* cap
➢Poly A tail is added to 3* end of mRNA
➢CCA is added to 3* end of tRNA
Crossing over – given by Morgan 1910
➢Reciprocal exchange of segments between non sister chromatids of homologous
chromosome.
➢Non sister chromatids called cross over or recombinant
➢Unchanged combinations are called non cross over or parental type
➢Crossing over occur in pachytene stage of meiosis I
➢Synopsis , divalent and synaptonemal complex formation –in zygotene
➢Chiasmata formation – diplotene
Mechanism of crossing over
Coupling and repulsion theory ––( Bateson and Punnet (1906)
Chiasmata type theory- Morgan
Modern theory – breakage and reunion
Coupling and repulsion theory Chiasmata type theory Modern theory
➢Single crossing over-
➢When non sister chromatids of a
homologous pair exchange segment only
at one place.
➢Double crossing over -
➢Exchange of segments between two non
sister chromatids at two place.
➢Reciprocal crossing over –
➢Crossing over occurs at two places between the same non sister chromosome.
➢It produces two parental type and two double cross over type.
➢Complementary crossing over – in this crossing over three or all four chromatids
are involved in exchange of segment.
➢However each crossing over occurs between non sister chromatids.
➢In double crossing over , a parental type may be absent and all are cross over
➢May be one parental type, two single cross over and one double cross over.
➢Multiple crossing over – in this 3,4 or more points of exchange occurs amongst
the non sister chromatids of the same homologous chromosome.
Factors affecting crossing over-
➢Distance
➢Temperature
➢Chemicals
➢Age
➢X- rays
➢Location
➢Importance of crossing over –
• The exchange of chromosome material results in variation in the offspring.
• It plays a crucial function in the evolution process.
• The creation of genetic maps is aided by crossing over frequency.
• Crossing over is evidence of a chromosome's linear organization of connected
genes.
➢ Chromosomal theory of linkage- (Morgan and Castle 1911)
➢ Main features-
➢ Linked genes are stay together during transmission from one to another generation.
➢ Linked genes occur on the same chromosome.
➢ Linked genes are arranged in linear fashion over the chromosome.
➢ Each linked gene occupy specific place over the chromosome.
➢ Genes tends to maintain original parental combination.
➢ Crossing over occurs due to weakening of linkage
➢ Types of linkage –
➢ Complete linkage and incomplete linkage
➢ Complete linkage – linkage which is not altered and inherited as such without any crossing
over
➢ Complete linkage is rare but has been reported in Drosophila
➢ Phenotypic ratio of test cross is 1:1
➢ Incomplete linkage –phenomenon of occasional crossing over between two homologous
chromosome .
➢ One ore more alleles present is linkage group are replaced by other .
➢ Produces both parental and recombinant type
➢ % of parental type is more than 50% while recombinant is less than 50%
➢ Phenotypic ratio of test cross is 9:1:1:8
Test cross Ratio
Law of independent assortment 1:1:1:1
Complete linkage 1:1
Incomplete linkage 9:1:1:8
Arrangements of linked gene
➢ Cis and trans arrangement
A a A B
B b b a
Cis Trans
Genetical disorder
• Most common and prevalent genetic disorders are Haemophilia, Cystic
fibrosis, Sickle cell anaemia, Colour blindness, Phenylketonuria, Thalassemia,
etc.
• Colour Blindness:
• It is a sex-linked recessive disorder
• failure to discriminate between red and green colour
• Defect in either red or green cone of eye
Haemophilia:
• It is X linked recessive disease
• a single protein that is a part of the cascade of
proteins involved in the clotting of blood is
affected
• an affected individual a simple cut will result
in non-stop bleeding.
Sickle-cell anaemia
• This is an autosome linked recessive trait
• The disease is controlled by a single pair of allele, HbA and HbS
• Out of the three possible genotypes only homozygous individuals for HbS
(HbSHbS ) show the diseased phenotype
• The defect is caused by the substitution of Glutamic acid (Glu) by Valine (Val) at
the sixth position of the beta globin chain of the haemoglobin molecule
Phenylketonuria:
• It is an autosomal recessive trait
• The affected individual lacks an enzyme that converts the amino acid
phenylalanine into tyrosine
• As a result of this phenylalanine is accumulated and converted into
phenylpyruvic acid and other derivatives
• Accumulation of these in brain results in mental retardation
➢Chromosomal theory of inheritance : (Sutton and Boveri (1902)
➢Key points –
❖Mendelian factors are located on the chromosome which show
segregation and independent assortment at the time of transmission
from one generation to another.
❖Supporting points –
❖Gametes are the bridge between one generation to next.
❖Equal contribution of both gametes in genetic of offspring.
❖Out of sperm only nucleus passes into egg for fertilization.
❖Nucleus contain chromatin which organise to from chromosome.
❖There are two chromosome of each type in an individual.
❖Gamete contain only one chromosome out of two.
Population genetics: study of gene frequencies in population
• Population: group of individuals present in a geographical are which
share common gene pool
• Gene frequency : percentage of an allele in relation to the total
alleles of a gene present in an interbreeding population
• Gene pool: all the gene and their alleles found in an interbreeding
population
• Genetic equilibrium : criteria
• Population is stable throughout the year
• No immigration or emigration
• Size of the population is large
• Mutations are negligible
• Sex ratio is unity and mating is random
Hardy –Weinberg equilibrium :
The allelic frequencies in a non evolving populations are stable and remain
constant from generation to generation
p+q=1 or (p+q)2 = p 2 + q 2 + 2pq=1
Five basic process which change hardy –Weinberg equilibrium and bring about
variation at the genetic level
• Mutation
• Recombination
• Genetic drift
• Gene flow
• Natural selection
➢ Epistasis: Interaction between two or more gene to control a single phenotype
➢ Interaction involve one gene masking or modified the phenotypic expression of another gene
➢ No new type of phenotypes are produced by this interaction
➢ Epistatic, hypostatic
➢Cause of epistasis:
➢ By presence of homozygous recessive of one gene pair
➢ By presence of one dominant allele in a gene pair
➢Dominant epistasis :
➢ 12:3:1
➢Recessive epistasis/ supplementary gene:
➢ 9:3:4
➢Duplicate recessive interaction:
➢ 9:7
➢Duplicate dominant interaction:
➢ 15:1
chromosome mapping-
➢ A linear graphic representation of the sequence of gene present over a chromosome and the
relative distance between them.
➢ Basis for chromosome mapping-
➢ Crossing over or recombination is directly proportional to the physical distance.
➢ Genes present farther apart on a chromosome undergo crossing over more frequently.
➢ F= total no of recombinant /total no of progeny
➢ 1 cM (Centi Morgan)= 1% recombination or 0.01 recombination frequency.
➢ 1dM (deci Morgan)= 10% recombination or 0.1 recombination frequency.
➢ 1 M (Morgan)= 100% recombination or 1 recombination frequency.
➢ Importance of linkage map-
➢ Provide information about location of different gene on various chromosome.
➢ Chances of crossing over between two genes can be known.
➢ Drawbacks of chromosome map-
➢ Chromosome maps are not accurate map.
➢ One crossing over interferes and reduces the frequency of nearby crossing over .
➢Sex linkage- linked group of gene found along with sex controlling
genes as present on sex chromosome .
➢Sex link inheritance- inheritance of certain gene together along with
sex determining genes.
➢Sex linked gene-the additional gene present on sex chromosome along
with sex determining gene are called sex linked gene.
➢Autosome – determine morphological traits
➢Allosome/ sex chromosome- determine the sex of individual.
➢Homomorphic – two sex chromosome having similar shape-
➢Heteromorphic – morphologically different sex chromosome
➢Androsome –sex chromosome determine male sex
➢Gynosome –sex chromosome determine female sex
Characteristics feature of sex linked inheritance-
➢Sex linked inheritance is criss cross inheritance.
➢Diagynic inheritance-male passes sex linked traits to grandson through his
daughter
➢Female passes its X chromosome equally into son and daughter.
➢Most of the sex linked traits are recessive.
➢Female are less affected with sex linked disorder- carrier
➢Males are more affected –hemiygous
➢Importance-