CELS 191 Lecture 24 Flashcards

(13 cards)

1
Q

what are mutations

A

permanent change to the DNA sequence - these can be inherited or acquired

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2
Q

what are germline mutations

A

mutations that inherited and are passed on via the gametes

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3
Q

what are somatic mutations

A

mutations acquired by somatic cells if DNA gets damaged or is copied incorrectly - these mutation are not passed on to the next generation

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4
Q

a mutation can be either…

A

heterozygous or homozygous

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5
Q

what is a loss of function mutation

A

when the mutation breaks the gene and causes it not work as well as normal, or to not work at all

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6
Q

are loss of function mutations dominant or recessive

A

recessive

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7
Q

what are gain of function mutations

A

mutations that cause a gene to work too well, or to do something unexpected

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8
Q

are gain of functions usually dominant or recessive

A

dominant

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9
Q

by examining the inheritance pattern of an allele we can determine…

A

if its dominant or recessive and if it is Y-linked, X-linked or autosomal

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10
Q

what are polygenic disorders

A

disorders that involve several genes acting together or environmental factors interacting with genes - these do not follow straightforward inheritance patterns

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11
Q

does having a disease related variant mean you will get the disease

A

no - such diseases come about through a combination of variants and the environment - different sufferers may have different disease mechanisms - most genetic disorders are probabilistic not deterministic

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12
Q

can fathers pass of x linked traits to their sons

A

no - there is no male-male transmission

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13
Q

who do X linked recessive traits most often affect

A

males

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