Topic 8-2 Flashcards

1
Q

different forms of a gene that exist in a locus

A

allele

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2
Q

the most common allele in the population is considered to be the:

A

wildtype allele

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3
Q

if identical alleles are present on both homologous chr, the organism/cell is said to be ________ for that allele

A

homozygous

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4
Q

if one allele is wildtype and the other allele is not, the organism/cell is said to be ________ for that allele

A

heterozygous

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5
Q

the known mutant alleles for a given gene plus its wild type allele are referred to as:

A

an ‘allelic series’ or ‘multiple alleles’

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6
Q

a situation where a cell/organism has only one copy of a gene. ex: a deletion or the gene occurs naturally in one copy of a homologous chr but not the other (X and Y)

A

hemizygous

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7
Q

dominant and recessive describe the relationships between:

A

two alleles of the same gene

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8
Q

what if an individual has two mutant alleles that are different from each other?

A

this is referred to as ‘heteroallelic’

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9
Q

alleles of genes do not always exhibit simple dminance/recessive relationships. sometimes there is an intermediate/blended phenotype in the heterozygote. this is known as:

A

incomplete dominance or semi-dominance

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10
Q

a situation where heterozygotes simulteneously express the penotypes of both alleles (ex: blood type)

A

codominant
AB blood is codominant

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11
Q

who designated five mutants classes as “morphs”?

A

HJ Muller

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12
Q

what are amorphs?

A

refers to the complete loss of a gene (null mutation). ex: deletion of a gene, missense point mutation, nonsense point mutations.

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13
Q

what are hypomorphs?

A

a mutation where the allele is still partially functional, but not at the level of the wild type gene (partial loss of function or leaky)

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14
Q

what are hypermorphs?

A

a mutation where the gene is active at a level higher than the wildtype gene (gain of function)

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15
Q

a repressor of muscle growth

A

myostatin

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16
Q

loss of myostatin function _______ muscle production

A

upregulates

17
Q

what are neomorphs?

A

a mutation where the allele is active, but has acquired a function that the wild type gene does not have. also a “gain of function” mutation

18
Q

neomorphic alleles of “cancer genes”

A

oncogenes

19
Q

the relocation of an oncogene next to a novel regulatory element

A

Burkitt lymphoma

20
Q

what are antimorphs?

A

a mutation where the allele is not only active, but can overide the function of the wildtype allele in a heterozygous setting. aka a “dominant negative” mutation

21
Q
A