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MCB1 Block 4 > Population Genetics > Flashcards

Population Genetics Flashcards

1
Q

what is population geneitcs

A

study of distrubituion and change in frequence of alleles within populations

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2
Q

what are different factors that could cause change in frequencies of disease or keep constant

A

genetic - mutation, reproduction, selection
societal - migration, mate selection
enviornmental - geography

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3
Q

Hypotonia, cherry red spot at fovea centralis, earlky age of onset, neural degeneration, death at 5 years is what disease

A

Tay-sachs disease

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4
Q

what is tay-sachs disease caused by

A

defecieicny of HexA enzyme

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5
Q

what population of people is incidence rate highest in tay-sachs disease

A

in ashkenazi jews, french canadians, cajuns

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6
Q

what gene is mutated in tay0sachs disease

A

HEXA

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7
Q

what enzyme is deficient in tay-sachs disease

A

Hexosiminidase A (HexA)

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8
Q

What does HexA stand for

A

Hexosiminidase A, an enzyme

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9
Q

what accumulates in tay-sachs

A

GM2 gangliosides

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10
Q

what organelle is issues in tay sachs

A

lysosome

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11
Q

GM2 gangliosides accumulate in what

A

ganglion cells

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12
Q

what happens to fovea in tay sachs

A

stays the same color, its red b/c of the vascular choroid layer under it

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13
Q

what happens to macula in tay sachs

A

it gets lighter, milky or pale gray

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14
Q

when else would you have a cherry red spot besides tay sachs

A

other lysosomal storage diseases like gaucher

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15
Q

what does HEXA encode

A

alpha subunit of HexA

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16
Q

what subunits does HEX A have

A

alpha and beta

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17
Q

what 3 genes are important for the enzyme hexa

A

HEXA
HEXB
GM2A

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18
Q

If HEXB subunit is mutated what disease

A

Sandhoff

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19
Q

If GM2A is mutated what is the diseasea

A

activator deficiency

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20
Q

What is GM2 Gangliosidosis Type 1

A

tay sachs

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21
Q

what is GM2Gangliosidosis Type 2

A

Sandhoff

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22
Q

what is GM2Gangliosidosis AB variant

A

activator deficiency

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23
Q

two alpha subunits from HEXA gene that come together is what enzyme

A

Hex S

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24
Q

two beta subunits that come together from HEXB gene is what

A

Hex B

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25
Q

alpha and beta subunit that comes together from HEXA & HEXB is what

A

Hex A

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26
Q

what is the most common mutation that causes tay-sachs in jewish population

A

4 bp insertion that results in frameshift

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27
Q

what does the 4 bp insertion result in to cause tay-sachs

A

frameshift

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28
Q

what does the 4 bp insertion result in to cause tay-sachs

A

frameshift

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29
Q

what organelle is affected in gaucher disease

A

lysosome

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30
Q

what population is found at high frequency for gaucher disease

A

ashkenazi jews

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31
Q

what is MOI for gaucher disease

A

AR

32
Q

what gene has mutation in gaucher

A

GBA

33
Q

what enzyme does GBA encode

A

beta glucocerebrosidase

34
Q

what accumulates in gaucher disease

A

glucoerebroside

35
Q

what become lipid filled and enlarged in gaucher disease

A

macrophages

36
Q

the total number of allels in a population is ____ the number of indiivduals in a population

A

twice

37
Q

what is genotype frequency equation

A

number of individuals with a defined genotype/total number of individuals in the population

38
Q

what is allele frequency equation

A

number of copies of an allele in pop/total number of allels in pop

39
Q

frequency of allele =

A

2x homozygote number + 1x heterozygote number/ 2xpopulation

40
Q

you can only use counting formular when you have what

A

the genes, you need ro have the alleles to calculate it

41
Q

what does hardy-weinberg law describe

A

relationshionship b/w allele and genotype frequencies

42
Q

p + q = ?

A

1

43
Q

homozygous normal AA = ?

A

p^2

44
Q

homozygous mutant aa = ?

A

q^2

45
Q

heterozygous Aa = ?

A

2pq

46
Q

what is the hardy-weinberg formular

A

P^2 + 2pg + q^2 = 1

47
Q

What are the 3 assumptions of hardy-weinberg law

A

large population
random mating
constant gene frequency

48
Q

if hardy weinberg is true what happens to allele frequencies

A

they stay constant

49
Q

is allele frequencies stay constant it is what

A

at hardy weinberg equilibrium

50
Q

if you are talking about the incidence rate of a disease being 1 in like 300,000 what is the incidence rate?

A

q^2

51
Q

are populations pretty close to being at hardy weinberg equilibrium?

A

yes pretty close

52
Q

what is in incidence rate of the disease?

A

q^2

53
Q

what is stratified mating

A

within bigger population are subgroups - can e racial, religious, or cultural - people in the subgroups mate more often than in the larger population

54
Q

what is affect of stratified mating

A

if there are mutatnt allele in subpopulation they will stay at higher frequency in subpopulation than they are at in the larger population

55
Q

what is assortive mating

A

mate chosen because of a particular trait, like language, intelligence, stature, skin color, athletic ability

56
Q

what is positive assorative mating

A

mates chosen b/c they share similar characteristics

57
Q

what is negative assoritve mating

A

mates are chosen b/c they have dissimilar characteristics

58
Q

is positive or negative assoritve mating more common

A

positive

59
Q

what are the exceptions to random mating

A

stratified mating
assortive mating
consanguineous mating

60
Q

what example is assortative mating resulting in increased genetic diseases

A

homozygous achondroplasia
genetic deafness
genetic blindness

61
Q

what is consanguineous mating affect

A

rare recessive alleles much more likely to become homozygous than expected by random chance

62
Q

methemoglobinemia does what

A

hemoglobin doesn’t properly deliver oxygen - blue people!

63
Q

what is an example of consanguineous mating

A

blue people of kentucky

64
Q

what is genetic drift

A

seen in small populations, allele frequencies fluctuate b/c when people with rare genotypes mate with eachother it will have more signifi ant impact on allele frequency (b/c there are less alleles)

65
Q

what are exceptions to large population

A

genetic drift

founder effect

66
Q

what is the founder effect

A

start off with big population and some people move somewhere else, over time as the population increases the larger population has same allele frequency as the founding population, and if the founders carried mutant allele its shown greater frequency in the new population

67
Q

what are examples of founder effect

A

tay sachs, gaucher: ashkenazics jews
maple syrup urin disease: pennsylvania mennonites
huntington disease: maracaibo venezuela (sailor that had a lot of kids when he visited and he passed on huntington disease)

68
Q

what is exception to constant allele frequency

A 
gene flow (migration)
heterozygote advantage
selection against mutant alleles due to loss of fitness
69
Q

what is gene flow

A

when a mutation arises it will spread slowly - radially - across its site of origin

70
Q

what is heterozygote advtange

A

carriers of disease has increased advantage over both type of homozygous normal genotypes - it provides survival advantage to heterozygotes and a selection for the mutant alleles

71
Q

what does heterozygote advtange result in

A

increased frequency of disease alleles in a pop

72
Q

what are examples of heterozygote advtange

A

sickle-cell

alpha and beta thalassemia

73
Q

what is selection against mutant alleles due to loss of fitness

A

mutant alleles that cuase loss of fitness are only exposed to selection whent heir phenotype is expressed
AD alleles are always expressed and selected against unless there is non-penetrance
so… seletion against mutant alleles will vary depending on how it is expressed

74
Q

how is x-linked recessie selected against due to loss of fitness

A

x-linked recessive only expressed and seleted againt in males… so 1/3 of x chromosomes are in males 1/3 of mutatn alleles are selected against

75
Q

if a male presents with x-linked disorder, what is the chance it was from mother vs. spontaneous mutation

A

2/3 chance from mother

1/3 chance due to spontaneous mutation

MCB1 Block 4 (17 decks)

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