Altered Mutation Rate for Single-gene disorders Flashcards

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1
Q

The ____ is usually expressed as an incidence giving the number of mutations at a locus per million gametes produced per generation.

A

mutation rate ( μ )

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2
Q

The _____ reflects the balance between the introduction of new mutant genes to the population & the loss of mutant genes from the population when an affected individual fails to reproduce.

A

mutant gene frequency

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3
Q

If there is no impairment of reproductive capacity, then the ____ is normal (1 or 100%), whereas if reproduction is impossible, the ____ is zero.

A

biological fitness ( f )

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4
Q

T/F. The impact of changes in the mutation rate on the frequency of a single - gene disorder depends upon the mode of inheritance

A

True.

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5
Q

If the condition precludes reproduction (f = 0), then the birth frequencies for autosomal dominant, autosomal recessive and X - linked recessive conditions can be calculated to be ____, ____, and ____, respectively.

A

2μ; μ; 3 μ .

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6
Q

Any change in the mutation rate will have most effect on an _____ & least on an _____.

A

X - linked recessive trait; autosomal recessive trait.

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7
Q

Mutation rates are difficult to determine & most information relates to autosomal dominant traits & X – linked recessive traits w/ estimates of ____ mutations per million gametes per generation for different loci.

A

1 – 100 (average 10 – 20)

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