Estimating Risk of Inherited Genetic Disease Flashcards

1
Q

What is meant by fitness?

A

The relative ability of organisms to survive and pass on genes

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2
Q

What is an allele that increases fitness?

A

Advantageous allele

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3
Q

What is a neutral allele?

A

Doesn’t effect fitness

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4
Q

What is a deleterios allele?

A

A decrease in fitness

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5
Q

What affects the health of the population?

A

The frequency of alleles

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6
Q

Do dominant alleles become more common from generation to generation?

A

No, relative frequencies remain constant

genotype frequencies also remain constant

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7
Q

What are the assumptions underlying the HWE? “Hardy Weinberg equilibrium”

A
  • Mutation can be ignored
    • Migration is negligible (No gene flow)
    • Mating is random
    • No selective pressure
    • Population size is large
    • Allele frequencies are equal in the sexes
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8
Q

What does the introduction of new alleles as a result of migration or intermarriage leads to?

A

New gene frequency in hybrid population.

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9
Q

What is the result of non-random mating?

A

Leads to increase mutant alleles, thereby increasing proportion of affected homozygotes

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10
Q

What is the choosing of partners due to shared characteristics?

A

Assortative Mating

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11
Q

What is Consanguinity

A

Marriage between close blood relatives.

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12
Q

What is natural selection?

A

A gradual process by which biological traits become either more or less common in a population.

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13
Q

What is Negative selection?

A

Reduces reproductive fitness.
- decreases the prevalence of traits.
- leads to gradual reduction of mutant allele

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14
Q

What is positive selection?

A

Increases reproductive fitness.
- Increases the prevalence of adaptive traits.
- Heterozygote advantage.

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15
Q

What is the effect of small population?

A

Can exhibit “genetic drift” and cause “founder effect”.

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16
Q

What is meant by genetic drift?

A

Random fluctuation of one allele transmitted to high proportion of offspring by chance.

17
Q

What is the founder effect?

A

The reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.

18
Q

What is the bottleneck effect?

A

Catastrophe results in a population with a high expression of a certain phenotype, regardless of wether or not it is advantageous to the population