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chapter 5 Flashcards

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Biology 101 flashcards
1
Q

SNPs (single nucleotide polymorphism)

A

single base change anywhere in genome

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2
Q

RFLPs (restriction fragment length polymorphism)

A

SNP that alters sequence recognized by enzyme

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3
Q

Snip SNPs

A

restriction site polymorphism

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4
Q

microsatilite markers

A

repeats of sequences

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5
Q

FISH (floresenct insitu hybridization)

A

reveals sites and position of single genes on condensed chromosome

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6
Q

genetic maps show us

A
  • determines if trait/disease is caused by varience of single gene
  • liklihood of trait inheritence
  • recombo
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7
Q

does dominance alter how genes are inheritted

A

No

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8
Q

dominance is interaction of…

A

products of genes

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9
Q

phenotype depends on

A

allele combination

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10
Q

amorph/null allele

A

complete loss of gene function

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11
Q

hypomorph

A

partial loss of gene function (reduction in expression or activitiy)

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12
Q

haplosuffient vs haploinsufficient

A

haplo - recessive
haploin - dominant

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13
Q

loss of function mutations are usually…

A

recessive

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14
Q

gain of function mutations are usually…

A

dominant

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15
Q

hypermorph

A

increase in normal gene function, dominant

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16
Q

antimorph/dominant negative

A

dominant and oppose normal gene function

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17
Q

neomorph

A

dominant gain of gene function

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18
Q

dominant negative

A

interferes with function of wild type gene function

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19
Q

phenocopy

A

loss of gene function

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20
Q

complete dominance

A

phenotype of homo and hetero are the same

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21
Q

incomplete dominace

A

heterozygous is it’s own phenotype (1:2:1 ratio)

22
Q

codominance

A

each allele has distinct gene product, both alleles detected in heterozygote

23
Q

codominance example

A

blood type

24
Q

lethal alleles

A

cause premature death

25
Q

recessive lethel

A

if both parents are carriers, 1/4 chance of death and 2:1 ratio

26
Q

conditional mutants

A

lethals isolated and can be manipulation

27
Q

permissable

A

viable

28
Q

restrictive

A

dead

29
Q

sublethal

A

incompletely expressed

30
Q

reasons for an unclear genotype…

A

-varying degrees of dominance
- multiple alleles at each locus
- lethal allele

31
Q

penetrance

A

all individuals have same mutant genotype but not all are phenotypically mutant

32
Q

expressivity

A

degree that genotype is expressed

33
Q

complimentation test

A

mate 2 mutants, if the progeny are homo recessive they are on the same gene

34
Q

double mutants

A

combine mutants in pairs and see if genes interact

35
Q

infer gene interaction based on…

A

mendalian ratios (2 indepenent is 9:3:3:1)

36
Q

epistasis

A

effect one gene pair (masks or modifies) on another gene pair

37
Q

linear pathway

A

genes are linearly converted to product

38
Q

parallel pathway

A

genes are converted to other genes that combine to end product

39
Q

prototroph

A

can grow on minimal mediaa

40
Q

auxotroph

A

needs nutritional substance and minimal media for growth

41
Q

recessive mutations in same path have a … ratio

A

9:7 ratio

42
Q

Recessive epistasis ratio

A

9:3:4

43
Q

epistasis in biosynthetic path

A

mutation in upstream gene is epistatic to downstream gene

44
Q

epistasis in regulatory development path

A

mutation in downstream is epistatic to upstream gene

45
Q

dominant episasis ratio

A

12:3:1

46
Q

modifiers

A

mutations that supress or enhance phenotype of other mutants

47
Q

supressor mutant

A

second site mutation that reverses affect of another mutant

48
Q

enhancer mutant

A

second side mutant that increases affect of another mutation

49
Q

recessive supressors segregate in a __ ratio

A

13:3

50
Q
A

genetics (8 decks)

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