Extensions Of Mendel’s Law Part 2 Flashcards

1
Q

In large populations , more than one wild-type allele ma y occur—a p henomenon known as

A

Genetic polymorphism

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2
Q

prevalent alleles in a natural population as

A

wild-t yp e alleles

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3
Q

random mutations occur in population and alter preexistig alleles.

A

Mutant alleles

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4
Q

Because random mutations are more likel y to disrupt gene function,____ are often defective in their abilit ability to express a functional p rotein. Such _____ tend to be rare in natural populations. They are typically, but not alwa y s, inherited in a recessive fashion

A

mutant alleles

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5
Q

Phenylketonuria

A

Phenylalanine hydroxylase

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6
Q

Albinism

A

Tyrosinase

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7
Q

Tay-Sachs disease

A

Hexosaminidase A

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8
Q

Sandhoff disease

A

Hexosaminidase B

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9
Q

Cystic fibrosis

A

Chloride transporter

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10
Q

Lesch-Nyhan syndrome

A

Hypoxanthine-guanine phosphoribosyl transferase

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11
Q

One of three mechanisms accounts for most dominant mutant alleles:

A

a gain-of-function mutation

a dominant-negative mutation

haploinsufficiency .

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12
Q

chan g e the g ene or the p rotein encoded by a gene so that it gains a new or abnormal function

A

Gain-of-function mutations

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13
Q

For exam p le, a mutant g ene ma y be overex p ressed, thereb y p roducin g too much of the encoded p rotein.

A

Gain-of-function mutations

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14
Q

change protein such that the mutant protein acts antagonistically to the normal protein. In a heterozygote, the mutant p rotein counteracts the effects of the normal protein, thereby altering the phenotype.

A

Dominant-negative mutations

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15
Q

, the dominant mutant allele is a lossof-function allele.

A

Haploinsufficiency

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16
Q

is used to describe p atterns of inheritance in which a heteroz yg ote ( with one functional allele and one inactive allele ) exhibits an abnormal or disease phenotype

A

Haploinsufficiency

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17
Q
A

Haploinsufficiency

18
Q

Another term used to describe the outcome of a trait is the degree to which the trait is expressed, or its______. In the case or polydactyly, the number or extra digits can vary. ror exam-ple, one mnaiviauar may nave an extra toe on only one root, wnereds a second individual may have extra digits on both the hands and feet.

A

expressivity

19
Q

the range of phenotvpes is often due to two factors.

The______ may affect the outcome of the phenotype
One or more _____may also affect the phenotype.

A

environment

modifier genes

20
Q

are those that are prevalent in a natural popu-lation.

A

Wild-type alleles

21
Q

When a gene exists in two or more wild-type alleles, this
is

A

Genetic polymorphism

22
Q

are often due to mutations that result in a reduction or loss of function of the encoded protein

A

Recessive alleles

23
Q

Dominant mutant alleles are most commonly caused by

A

gain-or-function mutations, dominant-negative mutations, or haploinsufficiency

24
Q

occurs when an allele that is expected to be expressed is not expressed

A

Incomplete penetrance

25
Q

are those that are prevalent in a natural popu-lation. When a gene exists in two or more wild-type alleles, this is genetic

A

Wild-type alleles

26
Q

A dramatic example of the relationship between environment and phenotype can be seen in the human genetic disease known as______

This autosomal recessive disease is caused by a defect in a gene that encodes the enzyme phenylalanine hydroxylase.

A

phenylketonuria (PKU)

27
Q

refers to the effects of environmental variation on a phenotype. Specifi-cally, it is the phenotypic range seen in individuals with a particular genotype.

A

norm of reaction

28
Q

Occurs When Two Alleles Produce an Intermediate Phenotype

A

Incomplete Dominance

29
Q

Occurs When Heterozygotes
Have Greater Reproductive Success

A

Overdominance

30
Q

Such heterozygotes may be more likely to survive and reproduce.
For example, a heterozygote may be larger, more disease-resistant, or better able to withstand harsh environmental conditions.

A

Overdominance

31
Q

Alleles of the ABO Blood Group Can Be

A

Dominant, Recessive, or Codominant

32
Q

. The i allele is recessive to both /^ and /”. A person who is homozygous ii has type___ blood and produces a relatively short oligosaccharide, which is called H antigen.

A

O

33
Q

two alleles are both expressed in the heterozygous individual is called____. In this case, the /^ and /” alleles are codominant to each other.

A

codominance

34
Q

The term _____refers to the phenomenon in which an allele is dominant in one sex but recessive in the opposite sex.

Therefore, sex _____ is a phenomenon of heterozygotes.

A

sex-influenced inheritance

35
Q

The genes that govern ____traits are auto-somal, not on the X or Y chromosome.

A

sex-influenced

36
Q

Some Traits Are Limited to One Sex

A

Sex-limited inheritance

37
Q

Sex-limited traits are responsible for______, in which members of the opposite sex have different morphological features. This phenomenon is common among many animal species and is often striking among various species of birds in which the male has more ornate plumage than the female.

A

sexual dimorphism

38
Q

• For___ traits such as scurs in cattle, heterozygous males and females have different phenotypes

A

sex-influenced

39
Q

• are expressed in only one sex, thereby resulting in sexual dimorphism

A

Sex-limited traits

40
Q

When the alleles of one gene mask the phenotypic effects of the alleles of another gene at a different locus, the phenomenon is called_____.

A

epistasis