Estimating Risk of Inherited Disease Flashcards

1
Q

The frequency of alleles in the whole population affects the health of the population.

A

population genetics

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2
Q

relative ability of organisms to survive and pass on genes.

A

“Fitness”

Alleles can affect fitness

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3
Q

Do not affect fitness in most cases

A

Neutral Allele

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4
Q

Allele that decrease fitness (sometimes)

A

deleterious allele

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5
Q

Allele that increase fitness (rarely)

A

advantageous allele

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6
Q

Relative frequencies remain ….

A

constant

Dominant conditions (alleles) do not become more common at the expense of recessive ones!

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7
Q

Hardy-Weinberg equilibrium (HWE)

A

Allele frequencies remain constant generation to generation.

Relative proportion of genotype frequencies remain constant generation to generation.

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8
Q

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

A

Assumptions underlying HWE

Ideal Population

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9
Q

Mutations …… the proportion of new alleles.

A

increase

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10
Q

Introduction of new alleles as a result of …. or ……….. leads to new gene frequency in hybrid population.

A

migration

intermarriage

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11
Q

…. increase mutant alleles, thereby increasing proportion of affected homozygotes.

A

Non-random mating

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12
Q

Choosing of partners due to shared characteristics.

A

Assortative mating -

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13
Q

Marriage between close blood relatives

A

Consanguinity

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14
Q

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

A

Natural selection

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15
Q

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

A

Negative selection

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16
Q

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

A

Positive selection

17
Q

Sickle Cell Anaemia, Thalassaemia and G6PD def have a ….. advantage and are resistant to..

A

Heterozygote advantage

Malaria

18
Q

Cystis Fibrosis have a … advantage and is resistant to …..

A

Cholera/Typhoid

19
Q

Large populations can balance out ….. , but small populations can exhibit “” and cause “”.

A

fluctuations
genetic drift
founder effect

20
Q

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

A

Genetic drift

bottleneck effect

Mutations (alleles) are widespread and neutral.

Statistical drift of gene frequencies due to chance or random events rather than natural selection in the formation of successive generations.

21
Q

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

A

founder effect

22
Q

Ellis-van Creveld syndrome

Assortative mating

A

The syndrome is more concentrated among the Amish because they marry within their own community.

Amish of Pennsylvania (a small number of German immigrants)

Polydactyly - extra fingers

23
Q

Application of HWE

A

calculating risk in genetic counselling

planning population based carrier screening programmes