LECTURE 12 - Population Genetics Flashcards

(48 cards)

1
Q

study of heredity and variation in a population?

A

population genetics

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2
Q

concerned with heredity in groups of individuals or population

A

Population Genetics

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3
Q

studies the genetic constitution of population

A

Population Genetics

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4
Q

all copies of every type of allele at every locus in all members of population?

A

gene pool

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5
Q

GENOTYPE FREQUENCIES

  • definition?
  • formula
A
  • 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)

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6
Q

GENE FREQUENCIES
- definition
- formulas (2)?

A
  • 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

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7
Q

Hardy-Weinberg Equilibrium

  • states that?
  • criteria (2)?
A
  • 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

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8
Q

ASSUMPTIONS of Hardy-Weinberg Equilibrium

A
  1. The population is infinitely large.
  2. There is random mating.
  3. There is no mutation, selection, migration, and genetic drift.
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9
Q

3 IMPORTANT consequences of Hardy-Weinberg Equilibrium

A

a. Gene and genotypic frequencies remain constant.

b. Absence of genetic change in the population

c. Absence of evolution

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10
Q

Hardy-Weinberg Equilibrium

formulas (3) for f(genotype)?

formulas (2) for f(gene)?

A

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

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11
Q

CONDITIONS FOR Hardy-Weinberg Equilibrium

A
  1. No Mutations
    - no new alleles are added
  2. Random Mating
    - no preference in mates
  3. No Natural Selection
    - all genotype have equal survival and reproduction
  4. Extremely Large Population Size
    - avoids genetic drift (for ex decrease of population due to accidents; if unti survivors mapipilitan mag mate with other species)
  5. No gene flow
    - no migration in or out of population
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12
Q

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?

A

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

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13
Q

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

A

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

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14
Q

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

A

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

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15
Q

in sex-linked traits, which of the 2 (male vs female) can be carriers for X-linked traits?

how about for Y-linked?

A

X-linked = only females

Y-linked = none can be carriers

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16
Q

FORMULA FOR THE FREQUENCY OF THE FF:

  1. f(X^A X^A)
  2. f(X^A X^a)
  3. f(X^a X^a)
  4. f(X^A Y)
  5. f(X^a Y)
A

1.) p^2
2.) 2pq
3.) q^2

4.) p
5.) q

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17
Q

in multiple alleles (blood type), what is the formula for frequency of alleles A, B, and O?

A

f(A) = p
f(B) = q
f(O) = r

wherein p + q + r = 1

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18
Q

FORMULA FOR THE FREQUENCY OF THE FF:

  1. f(AA)
  2. f(AO)
  3. f(BB)
  4. f(BO)
  5. f(AB)
  6. f(OO)
A

1.) p^2
2.) 2pr
3.) q^2
4.) 2qr
5.) 2pq
6.) r^2

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19
Q

FACTORS that disrupt the Hardy Weinberg Equilibrium

  • 2 categories of these factors?
  • 4 factors in total?
A

SYSTEMATIC (predictable magnitude and direction)
- mutation
- selection
- migration

DISPERSIVE (predictable magnitude, but unpredictable direction)
- genetic drift

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20
Q

composed of individuals in the population that are involved in sexual reproduction

A

Effective population size

21
Q

direct contributors to the gene pool for the next generation

A

Effective population size

22
Q

mutation vs selection vs migration

A

▪ 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

23
Q

4 types of mutation

+ notation for first 2

A
  1. Forward mutation: A->a (u)
  2. Backward mutation: a ->A (v)
  3. Recurrent mutation: occurs repeatedly in a population
  4. Nonrecurrent mutation: occurs only once in a population
24
Q

MUTATION - ONE-DIRECTION

formula for p / f(A) for:

  1. first gen
  2. second gen
  3. n gen
A

1.) p1 = p0 - (u)(p0)

2.) p2 = p1 - (u)(p1)

3.) pn = [p0] [(1-u)^n]

25
MUTATION - TWO-DIRECTION 1. formula for p / f(A) 2. formula for q / f(a) 3. formula for 1st gen p 4. formula for n gen p
p = (v) / (u+v) q = (u) / (u+v) p1 = p0 + (vq0 - up0) pn = pn-1 + (vq0 - up0) **pn-1 = p subscript (n-1)
26
when does bidirectional mutation occur?
when there is constant tug-of-war between u and v
27
what is selection pressure (s)? interpret: s=0
force preventing the survivability and reproductive capability s = 0 ; no disadvantage s = 1 ; lethal
28
3 types of SELECTION in terms of reproductive ability of genotype?
1.Directional – either one of the homozygotes is favored 2.Disruptive – both of the homozygotes are favored 3.Stabilizing – the heterozygotes are favored
29
what is fitness value (w)? formula?
individual's capability to reproduce w = 1-s
30
2 general types of SELECTION + which acts before fertilization? + which acts after fertilization?
1. Gametic selection – environment prevents participation of gametes carrying a specific allele in fertilization (BEFORE FERTILIZATION) 2. Zygotic selection – environment prevents participation of individuals with a specific genotype in mating (AFTER FERTILIZATION)
31
memorize selection table formulas
32
MIGRATION formula
(1-m)^n = (qn - Q) / (q0 - Q) wherein n = number of generations with migration q0 = frequency of the allele in the recipient population Q = frequency of the allele in the migrant population qn = frequency of the allele in the mixed population m = (Nmigrants) / (Nmigrants + Nrecipients)
33
Dispersive factors are due to?
sampling errors in the population
34
2 types of GENETIC DRIFT
a. Bottleneck effect – the effect when an original population is drastically reduced in size (a bottlenecking event) b. Founder effect – the effect when a few individuals become isolated from a large population and establish a new population with a different gene pool
35
"____ proposes while ____ disposes"
mutation selection
36
- for small population, drift is _____ - for large population, drift is _____
- significant - negligible
36
3 IMPORTANT FACTORS to recipient population in MIGRATION
1. difference in gene frequencies of recipient population and migrant group 2. proportion of migrant genes 3. number of generations of migration
37
random genetic drift causes (2)?
1. homozygosity 2. loss of genetic diversity
38
AUTHOR Founder Effect: If small number of individuals migrate into a new location, they become founder of a new population.
Mayr
39
WHAT is the - mating between individuals with common ancestry? + example group who did this?
INBREEDING - practiced by "dunkers" (small religous group from german that settled in pennsylvania)
40
4 consequences of inbreeding?
1. genetic uniformity 2. reduced vigor 3. reduced viability 4. reduced fertility
41
inbreeding depression VS inbreeding coefficient?
INBREEDING DEPRESSION - appearance of deleterious phenotypes INBREEDING COEFFICIENT - probability that any two alleles at a locus are alike by descent
42
divergence within a population occurs due to (5)?
1. appearance of new unfilled ecological niches 2. mutation 3. selection pressure 4. migration 5. genetic drift
43
WHAT refers to a genetically distinct population of the same species that differ in the relative frequency of some genes .... it is a consequence of (3)?
RACE 1. geographic isolation 2. genetic drift 3. adaptation to local conditions
44
is race formation a reversible process?
yes
45
race can lead to??
species formation
46
Speciation can occur if there is (3)?
1. permanent geographical barriers 2. acquisition of new genes through mutation 3. sexual isolation
47
2 types of speciation?
1. Allopatric speciation - species that inhabit separate geographic region 2. Sympatric speciation - species that inhabit at least in part the same geographic region