LECTURE 12 - Population Genetics Flashcards
(48 cards)
study of heredity and variation in a population?
population genetics
concerned with heredity in groups of individuals or population
Population Genetics
studies the genetic constitution of population
Population Genetics
all copies of every type of allele at every locus in all members of population?
gene pool
GENOTYPE FREQUENCIES
- definition?
- formula
- relative proportion of a specific genotype for a gene to all genotype for that gene in the population
EX:
f(AA) = (no. of AA individuals) / (total number of individuals)
GENE FREQUENCIES
- definition
- formulas (2)?
- relative proportion of an allele of a gene to all alleles of that gene in the population
1.) USING RAW DATA
f(A) = [(2 x no. of AA) + (no. of Aa)] / (2 x total no. of individuals)
f(a) = [(2 x no. of aa) + (no. of Aa)] / (2 x total no. of individuals)
2.) USING GENOTYPIC FREQUENCIES
f(A) = f(AA) + f(Aa) / 2
f(a) = f(aa) + f(Aa) / 2
Hardy-Weinberg Equilibrium
- states that?
- criteria (2)?
- all allele and genotype frequencies will remain constant from generation to generation
provided that the ff is working:
1. Mendelian Segregation
2. Recombination of Alleles
ASSUMPTIONS of Hardy-Weinberg Equilibrium
- The population is infinitely large.
- There is random mating.
- There is no mutation, selection, migration, and genetic drift.
3 IMPORTANT consequences of Hardy-Weinberg Equilibrium
a. Gene and genotypic frequencies remain constant.
b. Absence of genetic change in the population
c. Absence of evolution
Hardy-Weinberg Equilibrium
formulas (3) for f(genotype)?
formulas (2) for f(gene)?
f(A) = p
f(a) = q
1.) f(AA) = p^2
2.) f(aa) = q^2
3.) f(Aa) = 2pq
4.) f(A) = p
5.) f(a) = q
wherein p^2 + q^2 + 2pq = 1
and p + q = 1
CONDITIONS FOR Hardy-Weinberg Equilibrium
- No Mutations
- no new alleles are added - Random Mating
- no preference in mates - No Natural Selection
- all genotype have equal survival and reproduction - Extremely Large Population Size
- avoids genetic drift (for ex decrease of population due to accidents; if unti survivors mapipilitan mag mate with other species) - No gene flow
- no migration in or out of population
CASE 1: COMPLETE DOMINANCE
Consider phenylketonuria (PKU), a metabolic disorder that results from homozygosity for a recessive allele and occurs in about one out of every 10,000 babies born in the United States.
What is the frequency of carriers?
f(aa) = 0.0001 (1 out of 10000)
√(q^2) = √(0.0001)
q = 0.01
p = 1-q
p = 1-0.01
p = f(AA) = 0.99
f(Aa) = 2pq = 2(0.99)(0.01) = 0.0198
ANSWER: f(Aa) = 0.0198
CASE 2: CODOMINANCE
Codominance
Problem: In cattle, red coat and white coat are codominant traits. In heterozygotes, the two alleles are separately expressed resulting in roan coat. A cattle farm has 400 cattle with 256 having red coat.
What is the frequency of the cattle with white coats? with roan coat?
A - red
a - white
Aa - roan
n = 400
f(red cattle) = 256
f(AA) = p^2 = 256/400 = 0.64
√(p^2) = √(0.64)
p = 0.8
q = 1-p
q=1-0.8
q=0.2
f(aa) = q^2 = (0.2)^2 = 0.04
f(Aa) = 2pq = 2(0.8)(0.2) = 0.32
ANSWER:
f(white coat) = 0.04
f(roan coat) = 0.32
CASE 3: SEX-LINKED TRAITS
Colorblindness is an X-linked recessive trait in humans. A recent survey has shown that 1 in 12 males in the US have some degree of color blindness.
What is the estimated frequency of carriers in the US? What is the estimated frequency of normal vision females?
X^A - normal
x^a - colorblindness
f(X^a Y) = q = 1/12 = 0.08
p = 1 - q = 0.92
f(X^A X^a) = 2(0.08)(0.92) = 0.1472
f(normal vision females)
= f(X^A X^A) + f(X^A X^a)
= p^2 + 2pq = 0.9936
in sex-linked traits, which of the 2 (male vs female) can be carriers for X-linked traits?
how about for Y-linked?
X-linked = only females
Y-linked = none can be carriers
FORMULA FOR THE FREQUENCY OF THE FF:
- f(X^A X^A)
- f(X^A X^a)
- f(X^a X^a)
- f(X^A Y)
- f(X^a Y)
1.) p^2
2.) 2pq
3.) q^2
4.) p
5.) q
in multiple alleles (blood type), what is the formula for frequency of alleles A, B, and O?
f(A) = p
f(B) = q
f(O) = r
wherein p + q + r = 1
FORMULA FOR THE FREQUENCY OF THE FF:
- f(AA)
- f(AO)
- f(BB)
- f(BO)
- f(AB)
- f(OO)
1.) p^2
2.) 2pr
3.) q^2
4.) 2qr
5.) 2pq
6.) r^2
FACTORS that disrupt the Hardy Weinberg Equilibrium
- 2 categories of these factors?
- 4 factors in total?
SYSTEMATIC (predictable magnitude and direction)
- mutation
- selection
- migration
DISPERSIVE (predictable magnitude, but unpredictable direction)
- genetic drift
composed of individuals in the population that are involved in sexual reproduction
Effective population size
direct contributors to the gene pool for the next generation
Effective population size
mutation vs selection vs migration
▪ Mutation - transformation of an allele to another allele
▪ Selection – specific genotypes may have less or more survivability and reproductive capability
▪ Migration – alleles can be introduced into a population
4 types of mutation
+ notation for first 2
- Forward mutation: A->a (u)
- Backward mutation: a ->A (v)
- Recurrent mutation: occurs repeatedly in a population
- Nonrecurrent mutation: occurs only once in a population
MUTATION - ONE-DIRECTION
formula for p / f(A) for:
- first gen
- second gen
- n gen
1.) p1 = p0 - (u)(p0)
2.) p2 = p1 - (u)(p1)
3.) pn = [p0] [(1-u)^n]