Types of Mutation

Question 1

Describe how abnormalities in protein folding can cause diseases with gain-of-function, loss-of- function or dominant-negative mutational mechanisms. Give examples of diseases to illustrate the relevant principles.

Answer 1

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Question 2

Briefly explain the meaning haploinnsufficiency giving examples drawn from human molecular pathology.

Answer 2

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Question 3

Briefly explain the meaning of retrotransposition giving examples drawn from molecular pathology

Answer 3

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Question 4

Briefly explain the meaning of dominant-negative mutations of the following terms, giving examples drawn from human molecular pathology.

Answer 4

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Question 5

Briefly explain the meaning of position effect, giving examples drawn from human molecular pathology.

Answer 5

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Question 6

Briefly explain the meaning of inversion giving examples drawn from human molecular pathology.

Answer 6

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Question 7

Write short notes on Dominant negative mutations.

Answer 7

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Question 8

Describe how abnormalities in protein folding can cause diseases with gain-of-function, loss-of- function or dominant-negative mutational mechanisms. Give examples of diseases to illustrate the relevant principles.

Answer 8

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Question 9

Define gain-of-function, loss-of-function and dominant-negative mutations. Give examples and describe how you would devise experiments to test a new disease caused by autosomal dominant missense mutations to discriminate between these possibilities. Why is this important?

Answer 9

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Question 10

What types of phenotypes do loss of function changes lead to?

Answer 10

Recessive phenotypes. Dominant phenotypes can also result from loss of function if a 50% level of the normal gene product is not sufficient to produce a normal phenotype (haploinsufficiency), or if the protein product of the mutant allele interferes with the function of the normal product (dominant-negative effect)

Question 11

What types of phenotypes do gain of function changes lead to?

Answer 11

GOF changes usually lead to dominant phenotypes.

Question 12

What is haploinsufficiency

Answer 12

Where loss of function if a 50% level of the normal gene product is not sufficient to produce a normal phenotype, results in dominant phenotype.

Question 13

What is dominant-negative effect?

Answer 13

When the protein product of the mutant allele interferes with the function of the normal product