Chapter 4 Flashcards

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1
Q

Dominance of one allele over another is determined by the _______ of that allele

A

protein product

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2
Q

The overall phenotype is the consequence of the _______ of the protein products of the alleles of the gene

A

activities

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3
Q

_______: meaning that one copy of an allele is enough for normal function

A

Haplosufficient

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4
Q

_______: meaning that one copy of an allele is not enough for normal function

A

Haploinsufficient

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5
Q

A _______ phenotype is always produced when an organism has 2 copies of the wild type allele

A

wild-type

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6
Q

_______ mutation = when the gene product acquires a new function or shows an increased level of wild-type activity

A

gain-of-function

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7
Q

_______ mutation = when there is a significant decrease or complete loss of functional gene product

A

loss-of-function

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8
Q

loss-of-function mutations that produce no functional protein product is called _______ or _______; often these are lethal when homozygous

A

null mutation
amorphic mutation

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9
Q

loss-of-function mutations that result in a partial loss of function are called _______ or _______; the severity of the phenotype depends on the level of activity of the mutation

A

leaky mutation
hypomorphic mutation

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10
Q

Multimeric proteins, composed of 2 or more polypeptides that join together to form a functioning protein, are particularly subject to _______

A

dominant negative mutations

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11
Q

Dominant negative mutations are dominant due to the loss of function of the multimeric protein complex due to an _______ change in one subunit
- these are negative mutations due to their “_______” on the protein as a whole

A

amino acid
spoiler effect

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12
Q

Gain of function mutations can be _______ or ________

A

hypermorphic
neomorphic

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13
Q

_______ mutations produce more gene activity than the wild-type

A

hypermorphic

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14
Q

_______ mutations acquire novel gene activities not in the wild-type

A

neomorphic

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15
Q

_______ is when heterozygous individuals display intermediate phenotypes between either homozygous type

A

incomplete dominance

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16
Q

_______ produces heterozygotes with a phenotype different than that of either homozygote

A

Codominance

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17
Q

_______: RBC’s display A antigen on surface
_______: RBC’s display B antigen on surface
_______: RBC’s display A and B antigen on surface
_______: RBC’s display neither A or B antigen on surface

A

1) Type A blood
2) Type B blood
3) Type AB blood
4)Type O blood

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18
Q

Blood group antigens are _______ with the lipid portion anchored in the RBC membrane

A

glycolipids

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19
Q

What turns the H antigen into A antigen? B antigen?

A

A: A transferase
-adds N-acetylgalactosamine to 5 sugar molecule
B: B transferase
-adds galactose to 5 sugar molecule

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20
Q

The __-gene is responsible for coat color in mammals, and it produces an allelic series

A

C

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21
Q

What are the four forms of the C gene in mammal coat color? What color do they correspond with?

A

1) C: full
2) C^ch: chinchilla
3) C^h: himalayan
4) c: albino

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22
Q

The C allele produces a _______ enzyme that is 100% active making it _______

A

tyrosine
haplosufficient

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23
Q

the c^ch allele produces an enzyme that is less than 20% active making it _______

A

hypomorphic

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24
Q

the c^h allele produces an enzyme that is _______, it is also _______

A

temperature-sensitive
Hypomorphic

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25
Q

the c allele produces no functional enzyme making it _______

A

amorphic

26
Q

_______: single-gene mutations that are so detrimental that they cause death in the organism

A

lethal mutation

27
Q

the phenotype ratio for a organisms with a lethal allele is _______

A

1/3 homozygous
2/3 heterozygous

28
Q

_______ produces a protein essential for mouse development

A

Raly

29
Q

Dominant lethal alleles can sidestep natural selection if they have a _______

A

delayed age of onset

30
Q

A prominent example of delayed age of onset is _______

A

Huntington’s disease

31
Q

_______: where both sexes carry the genes for traits, but they are expressed in only one sex
- Genotype doesn’t really matter

A

sex-limited traits

32
Q

_______ are those in which the phenotype corresponding to a particular genotype differs depending on the sex of the organism

A

sex-influenced traits

33
Q

_______ = observed phenotype is consistent with the genotype

A

penetrance

34
Q

_______ = the phenotype associated with the genotype is not visible

A

non-penetrance

35
Q

_______ = when the expected phenotype is always expressed from a particular genotype

A

fully penetrant

36
Q

_______ = traits/genotypes that are nonpenetrant in a portion of the population

A

incomplete (variable) penetrance

37
Q

_______ is an autosomal dominant condition in which affected individuals have more than 5 fingers and toes. The dominant allele is _______

A

polydactyly
non-penetrant

38
Q

_______ is seen in individuals who show a phenotype but to a varying degree of severity

A

variable expressivity

39
Q

The human autosomal recessive condition, PKU, is an example of _______

A

environmental modification

40
Q

_______ is the alteration of multiple distinct traits by a mutation in a single gene

A

pleiotropy

41
Q

the collaboration of multiple genes in the production of a single phenotypic characteristic or group of related characteristics is termed _______

A

gene interactions

42
Q

_______ involve biosynthesis of complex compounds

A

anabolic pathways

43
Q

_______ involve degradation of complex compounds

A

catabolic pathways

44
Q

_______: the alleles of one gene modify or prevent the expression of alleles of another gene

A

Epistasis

45
Q

No gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

9:3:3:1

46
Q

_______: when 2 genes work together to produce a single gene product

A

complementary gene interaction

47
Q

Complementary gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

9:7

48
Q

_______: when two genes duplicate each others activity, in which a dominant allele at either locus gives rise to the wild type phenotype

A

duplicate gene action

49
Q

Duplicate gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

15:1

50
Q

Dominant gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

9:6:1

51
Q

In _______, homozygosity for the recessive alleles at one locus mask the phenotypic expression of the alleles at a second locus

A

recessive epistasis

52
Q

A recessive epistasis gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

9:3:4

53
Q

In _______, a dominant allele at one locus will mask the phenotypic expression of the alleles at a second locus

A

dominant epistasis

54
Q

A dominant epistasis gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

12:3:1

55
Q

In _______, a dominant allele at one locus completely suppresses the phenotypic expression of the alleles at a second locus

A

dominant suppression

56
Q

A dominant suppression gene interaction from crossing the F1 generation will lead to a phenotype ratio of _______

A

13:3

57
Q

Genetic _______ analysis is performed by mating two pure-breeding mutants for similar mutant phenotypes and observing the F1 generation.
- IF phenotypically wild type are obtained: mutations are on ______ genes
- IF phenotypically mutants are obtained: mutations are on ______ genes

A

complementation
different
same

58
Q

_______ described conditions when mutations in different genes can produce the same or very similar mutant phenotypes

A

genetic heterogeneity

59
Q

Using terminology from the chapter, characterize the 12 colonies that grow on minimal media (_______) and the 3 colonies that do not (_______)

A

prototrophs
auxotrophs

60
Q

Three colonies that do not grow on the minimal medium and are replica-plated to minimal medium plus serine, then all 3 colonies grow. Characterize these 3 colonies.

A

serine requiring (dependant) auxotrophs