Human Population Genetics (24,25) Flashcards

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1
Q

What explains why humans have a low genetic diversity?

a. Hardy Weinberg equilibrium
b. Ancient origin
c. Numerous bottlenecks
d. High rates of inbreeding

A

c. Numerous bottlenecks

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2
Q

What is not an underlying hypotheses in the Hardy Weinberg equilibrium?

a. Non-random mating
b. No migration
c. No drift
d. No selection

A

a. Non-random mating

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3
Q

Which doesn’t increase the fixation index (Fst)?

a. Inbreeding
b. Drift
c. Migration
d. Selection

A

c. Migration

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4
Q

What is not measure by the fixation index (Fst)?

a. Deficit in heterozygosity within a subpopulation
b. Probability of identity by descent of two alleles or inbreeding
c. The relative contribution of each force
d. Level of differentiation from total population

A

c. The relative contribution of each force

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5
Q

• The level of heterozygosity describes the distribution of genetic diversity within and across populations.

A

T

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6
Q

• Most alleles segregate within a population.

A

T

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7
Q

• The sea is better at diving human populations than mountains.

A

F

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8
Q

• The Wright fisher model for neutral evolution states that after enough time, any allele is resistant to fixation or loss.

A

F

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9
Q

• Different positions of mutations in the genome have different selective value.

A

T

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10
Q

• Hard sweeps relate to selection relying on standing genetic variation and soft sweeps relate to strong positive selection on single alleles.

A

F

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11
Q

What is a feature of a Mendelian disorder?

a. Multiple loci are involved
b. It occurs at a low frequency in the population
c. It has low penetrance
d. It cannot be mapped to a pedigree

A

b. It occurs at a low frequency in the population

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12
Q

What is a feature of a complex disorder?

a. It has low penetrance and each locus contributes a certain risk factor
b. It occurs at a low frequency in populations
c. A single locus is involved
d. It can be easily mapped on a pedigree

A

a. It has low penetrance and each locus contributes a certain risk factor

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13
Q

Which statement about evidence for specific gene selection in human populations is correct?

a. Hard sweeps correspond with polygenic inheritance and/or transient selection
b. The Selection coefficient of any mutation can be described by distribution of fitness effects (DFE)
c. Soft sweeps correspond with major genes and/or strong selection
d. Selective sweeps and the signature of selection cannot interact

A

b. The Selection coefficient of any mutation can be described by distribution of fitness effects (DFE)

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14
Q

What is an example of adaptive selection in a human population?

a. Europeans have an increase in eccrine sweat glands due to EDAR-370A (SE Asia)
b. Africans have LCTY which increases lactase persistence (Europeans)
c. South East Asian populations have less sweat glands due to a common EDAR mutation
d. FOXP2 and N325S are associated with language deficiency and have diverged from chimps

A

d. FOXP2 and N325S are associated with language deficiency and have diverged from chimps

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15
Q

What is significant about the ALDH2 504lys mutation?

a. It is present in 90% of the South East Asian population
b. It used to be present at 23% in Tokyo’s alcoholics and is now present at 2%
c. It can correlate to a dramatic increase in oesophageal cancer
d. It is a mutation that is consistent across all populations

A

c. It can correlate to a dramatic increase in oesophageal cancer

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16
Q

• Genetic variation across human populations is best described with admixture models and an amount of isolation by distance.

A

T

17
Q

• Selection affects the entire genome and demography targets specific loci.

A

F

18
Q

• Hypoxia profiles between Tibetans and Ethiopians are very similar.

A

F

19
Q

• It is difficult to disentangle genetic risk factors from demographic variation.

A

T

20
Q

• The allele effect (B) inversely correlates to frequency so the greater the effect, the lower the frequency.

A

T

21
Q

• Susceptibility alleles for complex diseases generally found at high frequency.

A

F (intermediate)

22
Q

• Predictions of disease associated risk factors are usually transferable across populations.

A

F