Population genetics Flashcards

1
Q

Define polymorphism

A

When there are variants of an allele that occur in greater than 1% of a population

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2
Q

What is the allele that determines immune response?

A

HLA

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3
Q

What is an example of non-polymorphic genes? Why are these not polymorphic?

A

Histones

Because a mutation would have a very deleterious effect on the organism

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4
Q

What are the four assumptions made for the hardy-Weinberg model to hold true?

A

Large population size
Equal fitness of offspring
Random mating
No influx of new alleles by migration/mutation

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5
Q

What are the four factors that run counter to the four assumptions made by the Hardy-Weinberg model?

A

Genetic drift
Selection
Random mating
population bottlenecks and founder effects

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6
Q

What is genetic drift?

A

Normal statistical variations that can occur in small populations

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7
Q

What is selection?

A

When not all alleles bestow equal fitness to the organism

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8
Q

What is assortive mating?

A

Selection of sex partners based on similar traits (counter to the random mating)

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9
Q

What is the effect of assortiv mating?

A

An increase in the number of homozygous individuals, not the allele frequency

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10
Q

What are population bottlenecks and the founder effect?

A

Population bottle neck is when there is a significant loss of genetic variation due to the death of a large percent of the population.

Similarly, founder effect is when there is a common ancestor(s) of a population

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11
Q

What is linkage disequilibrium?

A

It describes the dissimilar percentage of alleles present is a population, after two alleles in very close proximity undergo recombination.

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12
Q

What is the disease common among the amish of pennsylvania? What principle of of population genetics does this demonstrate?

A

Ellis van Crevald syndrome (a type of skeletal dysplasia).

Caused by the founder effect

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13
Q

What is the disease that is common among Ashkenazi Jews?

A

tay-sachs disease

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14
Q

What is the disease that is common amongst french canadians?

A

Tyrosinemia

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15
Q

What is the reason for the prevalence of cystic fibrosis in Europeans?

A

CFTR transporter is less susceptible to typhoid fever.

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16
Q

What is the reason for hemachromatosis prevelance amongst Europeans?

A

Bubonic plague

17
Q

What is the reason for the prevalence of Beta-thallesemia among Mediterranean descent?

A

Malaria

18
Q

How is polymorphism linked to the Vit D transporter?

A

Some polymorphisms may cause changes in its uptake ability.