Unit Iii Population Genetics

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POPULATION and

HARDY WEINBERG LAW


BIOLOGY 230
DEPARTMENT OF BIOLOGY
COLLEGE OF ARTS AND SCIENCES
CENTRAL MINDANAO UNIVERSITY
POPULATION
A group of interbreeding or
potentially interbreeding individuals
sharing a common gene pool

 Gene pool – the sum total of all genes


in the gametes of the population.
 Gene frequencies or allele
frequencies – the proportion of the
different alleles of a gene in a
population.

Gene No. of copies of a specific


frequency = allele in a population
Total no. of all alleles for
that gene in a population
Individual vs. Population
Characteristics Individual Population

Lifespan One generation Many generations

Spatial Continuity Limited Extensive

Genetic Genotype Gene frequencies


characteristics
Genetic variability None Considerable

Evolutionary No changes, Can change in


characteristics individual has only gene frequency,
one genotype and since evolution
limited to only a occurs between
Proponents of Hardy-Weinberg law
 W.E. Castle
 Godfrey Hardy
 Wilhelm Weinberg

 Extensions of Mendel’s Law of Inheritance


HARDY-WEINBERG LAW (Equilibrium)
 With random mating, a large population
with frequencies p and q for two alleles at a
locus, e.g. A and a, will attain in one
generation the frequencies p2, 2pq, and q2
for the three genotypes formed, i.e. AA, Aa
and aa, respectively, regardless of its initial
genotypic array and will remain in these
proportions from generation to generation
as long as gene frequencies are not
changed either (in the absence of forces
that change gene frequencies).
Example: flower color in four o’clock plant
Phenotypes Red Pink White

Genotypes RR Rr rr

No. of plants 320 160 20

Genotype 320 = 0.64 160 = 0.32 20 = 0.04


frequencies 500 500 500
No. of alleles in 640R 160R +160r 40r
gene pool
Allele frequency 800 = 0.8R 200 = 0.2R
1000 1000
Assumptions of HW law
 Large population (300-400)
 Random mating
 No evolutionary forces affecting the

population – no mutation, no selection


and no migration
 Genes segregate normally in

gametogenesis
 Gene frequencies are the same in

males and females


HW Equilibrium: illustration
 Generation 0 : dAA +hAa + raa
P (A): p =d +½h
P (a) : q = r +½h
 Generation 1: p2 AA + 2pq Aa + q2aa

Random mating
No evolutionary forces

 Generation t: p2 AA + 2pq Aa + q2aa


HW Equilibrium: numerical illustration
 Generation 0 : 0.50AA +0.20Aa + 0.30aa
P (A): p =0.50 +0.10 = 0.60
P (a) : q = 0.40
 Generation 1: 0.36 AA + 0.48 Aa + 0.16 aa

Random mating
No evolutionary forces

 Generation t: 0.36 AA + 0.48 Aa + 0.16 aa


Chi Square test to determine HW
Equilibrium at a locus
 PROBLEM: Test each of the following
populations of Rattus argentiventer for HW
equilibrium with respect to the Hb locus,
assuming there are only to alleles (A and C) at
a locus:
 1. 60 Hb CC + 12 Hb AC
 2. 70 Hb CC + 42 Hb AC + 8 Hb AA
Two general types of mating
 1. Random mating
 2. Nanrandom mating

a. inbreeding = mating of related


individuals with at least a common
ancestor
b. assortative mating
Positive assortative mating = like with like
Negative assortative mating = like with
unlike
Effect of Inbreeding
 Inbreeding reduces the frequency of
heterozygotes proportional to the inbreeding
coefficient(F) and consequently increases the
frequency of homozygotes.
E.g.
 before inbreeding: P(Aa) = h

 after inbreeding: P (Aa) = h-Fh

 0<F<1
 F= 0 (no inbreeding);
F= 1 (complete inbreeding)
HW Equilibrium + inbreeding
 Generation 0 : dAA +hAa + raa

 Generation 1: (d +½Fh)AA + (h-Fh)Aa + (r +½Fh)aa


Effect of inbreeding on HW
Equilibrium: numerical illustration
 Generation 0 : 0.50AA +0.20Aa + 0.30aa
P (A): p =0.50 +0.10 = 0.60
P (a) : q = 0.40 F= 1/4
 Generation 1: 0.525 AA + 0.15 Aa + 0.325 aa

P (A): p1 =0.60
P (a) : q1 = 0.40 F =1
 Generation t: 0.6 AA + 0 Aa + 0.4 aa

When F= 1, pAA + qaa …Inbreeding changes genetic


structure or genotypic frequency while gene frequency
does not change.
FORCES THAT CHANGE GENETIC
STRUCTURE OF NATURAL POPULATIONS
 Genetic Structure:
distribution of genotypes of a population
with respect to a gene or locus of interest;
kinds of genotypes and their frequencies.
FORCES THAT CHANGE GENETIC
STRUCTURE OF NATURAL POPULATIONS
 Type of change
1. Systematic processes : cause changes in the
genetic structure/gene frequencies that are
predictable in amount and direction.
Ex. Migration, selection mutation

2. Dispersive processes : causes changes in


gene frequencies predictable in amount but
not in direction. Ex. Random genetic drift
Mutation
Nonrecurrent mutation:

 one-shot event;
 occurs rarely( e.g. once during the life of a

population)
 Produces no permanent change in a very

large population because the product has a


small chance of surviving and is lost in the
population
Mutation
Recurrent mutation:

 Continuous
 Occurs regularly (e.g. every generation)
 Types:

1. One-way mutation: one directional


 A a forward or recessive mutation
 aA backward or dominant mutation
Formula for recurrent mutaton
µ = mutation rate
po = initial frequency of A
qo = initial frequency of a

µ Because of its low


spontaneous rate (µ
A  a
= 1 x 10-8 to 1x 10-
p o qo 4
), mutation as an
Δq = µpo evolutionary force
Δp = µqo produces an
insignificant change
in gene frequency
Two-way mutation

µ
A ⇄ a
u = forward
po v q o mutation rate
v= backward
Δq = gain in q – loss in q mutation rate
= µpo - vqo
 Note: One- way mutation cannot lead to
equilibrium while 2-way mutation can lead to
population equilibrium
 Gene frequencies at equilibrium under

mutation
^
q = u At equilibrium,
u+v
^ Δq = 0
p = v µpo = vqo
u+v
Gain = loss
MIGRATION
 Movement of individuals from population to another
 Also called gene flow
 Types;
◦ Emigration
◦ Immigration
Let
m = proportion of immigrants
1-m = proportion of natives
q0 = gene frequency among the natives before
immigration
qm = gene frequency among the immigrants before
immigration
MIGRATION
 Change in q= Δq = m(qm-qo)

 Δq = q1 –q0
SELECTION
 Differential survival of the different
genotypes and phenotypes
 Natural or artificial

nonsurvival of some individuals to reproductive age or


if some individuals survive without becoming parents

Disproportionate genetic contribution of genotypes

Change in genetic structure and gene frequencies
(selection)
SELECTION
 Fitness or adaptive value (ω) = reproductive
ability; contribution of offspring to the next generation
 The most favored phenotype = highest reproductive

ability (‘most fit’)

 Natural selection
2 levels
1. gametic = against A or a
2. zygotic = against AA, Aa or aa
Selection coefficient (s)
 Selective force acting to reduce the adaptive
value
 Strength of selection

 s=0 (no selection)


 0<s<1 (partial selection)
 s = 1 (complete selection)
Fitness and selection coefficient
 ω = 1-s
 If s is absent, fitness is always equal to 1.
 Actually acts on the phenotype, not on the genotype.
Selection against recessive allele
Genotypes AA Aa aa

Relative fitness 1 1 1-s


(ω)
Genotype p2 2pq q2
frequency before
selection
Genotype p2 2pq q2 (1-s)
frequency after
selection
P2 2pq q2 (1-s)
(1-sq2) (1-sq2) (1-sq2)
Selection against recessive
allele(p=0.4;s=0.2)
Genotypes AA Aa aa

Relative fitness 1 1 1-0.2=0.8


(ω)
Genotype 0.16
0.48 0.36
frequency before
selection
Genotype p2 2pq 0.36 (0.8)
frequency after
selection
0.16 0.48 0.288
(1-(0.2)(0.36)) (0.928) (0.928)
Types of selection
 Directional selection
 Desirable traits often representing phenotypic extremes
are selected
 Important in plant and animal breeding
 Stabilizing selection
 Favor intermediate phenotypes, with both extreme
phenotypes being selected against
 Disruptive or diversifying selection
 Selection againsts intermediates and both extreme
phenotypic extremes
Genetic drift (bottleneck effect)
 Leads to an increase in homozygosity and
therefore decreases heterozygosity
◦ Uniformity or loss of genetic variation
◦ Fixation of genotype
 Examples:
 Only a few parents are chosen to begin a new

generation only a small sample of genes may


deviate widely from the gene frequencies of the
previous generation
 Dunkers – small, isolated religious community (

marriage within a group).


Other forces
 Meiotic drive – unequal or preferential segregation
of gametes; problem in meiosis
◦ Similar to the effect of gametic selection
 Gene conversion –when in a heterozygote, one of
the alleles is changed to the other to its own form
through a chemical conversion.
◦ Causes deviation from 1:1 or 2:2 segregation of alleles in
meiosis and therefore changes gene frequency in
populations
◦ Maximum frequency is obtained when heterozygotes are
at their highest frequency in the population ( when alleles
are equally frequent in random mating population)

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