Lecture 10-11 Flashcards

1
Q

What is the max number of diff. alleles for a single gene that one person can have?

A

2, one from each parent

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2
Q

What is the maximum number of alleles for a single gene that can be observed in a population?

A

Many
eg. socks (only two per pair, but the combinations are endless)

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3
Q

**Define haplosufficient.

A

when one wild type allele is sufficient to produce the wild-type phenotype
aka. similar result as complete dominance

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4
Q

**What is the difference between dominance/recessive and sufficiency?

A

Genes can be haplo(in)sufficient, but only mutant alleles can be dominant or recessive

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5
Q

**Define haploinsufficient.

A

When the wild-type allele is recessive

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6
Q

Define wild-type.

A

describes the trait/allele that is most common in a natural population

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7
Q

Define null/amorphic.

A

“zero” or “w/o form”
A loss of function mutation which produces no functional gene (abnormal products)
-often recessive and lethal in homozygous genotype

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8
Q

Define dominant negative.

A

a loss of function mutation and result of abnormal polypeptide interaction–> dominant

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9
Q

Define hypomorphic.

A

aka a leaky mutation
a loss of function mutation resulting in partial loss of gene function
-often recessive and homozygous is lethal

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10
Q

Define hypermorphic.

A

a gain of function mutation increased gene activity, “overdrive”
lethal in homozygotes

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11
Q

Define neomorphic.

A

a gain of function mutation where the gene gains activities not found in the w+

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12
Q

Define incomplete/partial dominance.

A

When a phenotype in a heterozygous organism is an intermediate between the homo. phenos., but more similar to one pheno, than the other

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13
Q

Define codominance.

A

The equal and detectable expression of both alleles in a heterozygous organism.

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14
Q

**Define allelic series.

A

A group of alleles of a genes that display a hierarchy of dominance relationship among them.

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15
Q

Define temperature-sensitive allele.

A

A mutation evident only at or above a certain temp, due to an abnormality of the protein product that affects stability.

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16
Q

How does a lethal allele affect phenotypic ratios?

A

One genotype is not present (failure to produce the affected category of progeny)
-Mendelian: 1:2:1
-Lethal allele: 2:1
–> the mutant allele is both dom and rec

17
Q

Why does Huntington Disease (HD) have delayed age of onset?

A

-symptoms are due to neuron death which usually takes place over several decades

18
Q

What is meant by “delayed age of onset”?

A

-“side steps natural selection” aka doesn’t appear until after affected organisms have been able to pass down the gene

19
Q

Define penetrance.

A

the expression of phenotype corresponding to a particular genotype
iow. if dominant trait is present, org. presents dominant pheno
eg. polydactyly

20
Q

Define expressivity.

A

the phenomenon where the same genotype produces varying degrees of phenos
eg. Waardenburg syndrome (HOH, heterochromia, white lock of hair, premature hair graying)

21
Q

Define gene-environment interactions.

A

describes the influences of environmental factors on genes and the phenos of organisms
eg. plant height based on soil/water/sunlight conditions

22
Q

Define pleiotropy.

A

a single gene mutation altering multiple seemingly unconnected features of an org., iow secondary effects due to an mutant allele
-often seen in developmental diseases
eg. sickle cell disease

23
Q

Define epistasis.

A

gene interactions that modify or prevent the expression or alleles of another gene

24
Q

Define genetic complementaiton.

A

An epistatic interaction where genes must act together to produce a phenotype
–>indicates that multiple genes are used to code for one phenotype
eg. sweet pea flower color
9:7 ratio

25
Q

Define complementation group.

A

a group of mutations that effect the same gene