Classification of mutations by their effects in function Flashcards

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1
Q

Mutations may usefully be classified by their
effects on protein function into _____, ______, and _____.

A

loss - of - function; gain - of - function; dominant - negative mutations

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2
Q

_____ mutations cause a reduction in the activity or amount of the encoded protein and include most mutations.

A

Loss - of - function

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3
Q

Loss - of - function mutations can underlie ______, e.g. if the resulting 50% of protein activity in a carrier of such a mutation is sufficient for normal cellular function.

A

recessive inheritance

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4
Q

If the 50% level of activity is insufficient, then the loss-of-function mutation is said to result in _____ and dominant inheritance results.

A

haploinsufficiency

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5
Q

If the 50% level of activity is insufficient, then the loss-of-function mutation is said to result in haploinsufficiency and _____ results.

A

dominant inheritance

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6
Q

Mutations affecting the _____ gene, results in haploinsufficiency causing Léri – Weill dyschondrosteosis.

A

SHOX

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7
Q

Mutations affecting the SHOX gene, results in haploinsufficiency causing ______.

A

Léri – Weill dyschondrosteosis

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8
Q

______ mutations, w/c are less common than loss of function mutation, result in a greater level of activity, a greater amount of protein or, more rarely, acquisition of a new function.

A

Gain - of - function

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9
Q

RET mutations are a gain-of-function mutation that results in greater level of gene activity. This causes what disease?

A

Multiple endocrine neoplasia type 2

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10
Q

Example of a gain-of-function mutation that results in the acquisition of a new function.

A

BCR-ABL chimeric gene after chromosomal translocation

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11
Q

_____ are those that generally impair the function of the protein encoded by the mutant gene copy and also, as a result of protein – protein interactions reduce the function of the protein encoded by the normal copy of the gene.

A

Dominant - negative mutations

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12
Q

Dominant - negative mutations include some mutations in _____, the gene that encodes fibrillin and is associated with Marfan syndrome.

A

FBN1

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13
Q

Dominant - negative mutations include some mutations in FBN1, the gene that encodes ____ and is associated with Marfan syndrome.

A

fibrillin

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14
Q

Dominant - negative mutations include some mutations in FBN1, the gene that encodes fibrillin and is associated with _____.

A

Marfan syndrome

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