Estimating Risk of Inherited Genetic Disease Flashcards

1
Q

What is meant by fitness?

A

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

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?

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 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

Increase mutant alleles
Increasing proportion of affected homozygotes

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10
Q

What is assortative mating

A

Partners with similar phenotype or genotype mate more frequently

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11
Q

What is Consanguinity

A

Marriage between close blood relatives.

Shown by double horizontal line

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12
Q

What is natural selection?

A

Gradual process where biological traits become more or less common in population

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13
Q

What is Negative selection?

A

Reduces reproductive fitness
- decreases 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 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

Reduction in genetic variation
Small subset of large population is used to establish new colony

18
Q

What is the bottleneck effect?

A

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

19
Q

What is anticipation

A

Disease presents earlier
Increasing severity in successive generations

20
Q

What is HNPCC

A

Autosomal dominant condition
Genetic mutation and impaired DNA MMR
Increases risk of cancers, including colon cancer

21
Q

Describe Huntington’s disease

A

Autosomal dominant disease
50% chance passing to child
Brain stops working properly overtime

22
Q

Describe sickle cell disease

A

Autosomal recessive disease
Affects RBC

23
Q

Describe X-linked recessive mutations

A

Men more likely affected
Only one X chromosome - only needs one mutated allele