Contribution of genetic changes to human disease Flashcards

1
Q

What is a genetic transition

A

A substitution which conserves the base chemistry

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2
Q

What is a genetic transversion

A

A substitution which changes the base chemistry

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3
Q

How does inversion of an exon affect splicing

A

Prevents it

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4
Q

What is an amporph

A

A variant that causes complete loss of gene function

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5
Q

What is a hypomorph

A

A variant that causes partial loss of gene function

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6
Q

What is a hypermorph

A

A variant that causes an increase in normal gene function

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7
Q

What is an antimorph

A

Dominant alleles which act in opposition to normal gene activity

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8
Q

What is does neomorphic mean

A

variants that cause a dominant gain of gene function that is different from normal function

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