Chapter 4 Flashcards

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1
Q

Wild-Type

A

allele that occurs more frequently in population

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2
Q

Mutations

A

mutant allele contains modified genetic information and often specifies an altered gene product

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3
Q

Loss-of-function Mutations

A

mutation in gene causes change in conformation enzyme

if complete, results in null allele

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4
Q

Gain-of-function Mutations

A

some mutations enhance function of wild-type allelic function

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5
Q

Neutral Mutation

A

the gene product presents no change to phenotype

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6
Q

Intermediate phenotype

A

results from cross between parents with contrasting traits

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7
Q

Incomplete/partial dominance

A

neither allele is dominant

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8
Q

Codominance

A

two alleles of a single gene produce two gene products

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9
Q

Multiple Alleles

A

three or more alleles of the same gene

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10
Q

Lethal Alleles

A

genes required for organism’s survival, if recessive, heterozygotes live

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11
Q

Epistasis

A

expression of one gene or gene pair masks/modifies effect of another gene pair

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12
Q

Dominant Epistasis

A

dominant allele at one loci masks an allele at second loci

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13
Q

Complementation Analysis

A

determines if two mutations are in the same gene

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14
Q

Pleiotropy

A

expression of a single gene has multiple phenotypic effects (ex Marfan)

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15
Q

X-Linkage

A

genes present on X chromosome

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16
Q

Lethal X-linked recessive Disorders

A

observed only in males, females are heterozygotes (ex Duchenne)

17
Q

Sex-Limited Inheritance

A

patterns of gene expression affected by gender

18
Q

Penetrance

A

percentage of expression of mutant genotype in population

19
Q

Expressivity

A

range of expression of mutant phenotype

20
Q

Translocation/Inversion

A

location of gene may modify its expression

21
Q

Genetic Anticipation

A

genetic disease has earlier onset and increased severity with each succeeding generation

22
Q

Extranuclear Inheritance

A

inheritance patterns which vary from traditional biparental inheritance of nuclear genes

23
Q

Organelle Heredity

A

organisms phenotype determined by genetic information expressed in maternal gamete

24
Q

Maternal Effect

A

organisms phenotype determined by genetic information expressed in maternal gamete

25
Q

Heteroplasmy

A

cell may or may not have mutant genes in organelles