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human genetics > Week 4- Population genetics > Flashcards

Week 4- Population genetics Flashcards

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Biology 101 flashcards
1
Q

what is population genetics

A

application of genetic principles to entire populations of organisms

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2
Q

why is there genetic composition and changes in population genetics

A

natural selection etc

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3
Q

what is a population

A

group of organisms of the same species living in the same geographical area

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4
Q

what is a subpopulation

A

any of the breeding groups within a population among which migration is restricted

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5
Q

what does a gene pool consist of

A

all the alleles for all loci in a population

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6
Q

when is a locus fixed

A

if all individuals in a population are homozygous for the same allele

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7
Q

what is hardy Weinberg equilibrium

A

a type of model used by biologists to study populations

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8
Q

what does Hardy-Weinberg equilibrium state

A

the genotype frequencies in a population remain constant between generations in the absence of disturbances by outside factors

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9
Q

what is Hardy-Weinberg equilibrium used to estimate

A

the number of homozygous and heterozygous variant carriers of a gene based on its allele frequency in populations that are not evolving

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10
Q

what is Hardy-Weinberg equilibrium used for

A

to describe a non-evolving population

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11
Q

what are the 5 conditions for genotype frequencies to stay the same

A
  1. large population size
  2. no migration
  3. no net mutations
  4. random mating
  5. no natural selection
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12
Q

how many genotypes are at a locus for a diploid organism

A

3: Aa, AA, aa

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13
Q

what is the frequency of all genotypes in a whole population

A

1

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14
Q

what is the Hardy-Weinberg equilibrium equation

A

p2 + 2pq + q2 = 1
1 = p + q

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15
Q

what does P= ?

A

Frequency of the dominant allele

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16
Q

what does q= ?

A

frequency at the recessive allele

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17
Q

what is p2

A

frequency of homozygous dominant genotype

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18
Q

what is q2

A

frequency of homozygous recessive genotype

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19
Q

what is 2pq

A

frequency of heterozygous genotype

20
Q

how is allele frequency calculated

A

number of copies of a specific allele in a population / total number of all alleles of that gene in a population

21
Q

how is genotype frequency calculated

A

number of individuals with a particular genotype in a population / total number of individuals in a population

22
Q

what test can be used to check whether deviation is larger than expected by chance

A

chi-square test

23
Q

what are Y chromosomes

A

patrilineal

24
Q

what are the two types of genetic markers of Y chromosomes

A
  • Y-STRs
  • Y-SNPs
25
Q

what is mtDNA

A

matrilineal

26
Q

what is typically sequenced

A

control region of the mtDNA

27
Q

what is the haplogroup assigned by

A

the presence of specific DNA mutations

28
Q

what is SNP

A

single nucleotide polymorphism

29
Q

what is a haplotype

A

can refer to a combination of alleles or set of SNPs

30
Q

what is haplogroup

A

group of people who share a common ancestor on the patriline or matriline

31
Q

what has driven evolutionary change

A
  • viruses
  • positive natural selection
32
Q

what is 8% of the human genome compromised of

A

retroviruses at various stages of fossilisation

33
Q

what is retroviruses at various stages of fossilisation

A
  • non-coding DNA
  • Human endogenous retrovirus
34
Q

what is human endogenous retroviruses

A

Endogenous viral elements in the genome that closely resemble and can be derived from retroviruses

35
Q

why are hERVs incapable of replication and contain major deletion or nonsense mutations

A

because they are merely traces of original viruses, having first integrated millions of years ago

36
Q

what is syncytin

A

domestication of a retroviral envelope gene env

37
Q

what does syncytin do

A

mediate nutrient transfer from the to the developing embryo in placental mammals

38
Q

why do all infants have a high lactase enzyme activity

A

to digest the sugar lactose in milk

39
Q

when does lactase enzyme activity decline in most humans

A

after weaning

40
Q

which genes can become resistant to malaria

A
  • haemoglobin
  • enzymopathies
  • RBC antigens
  • immune genes
41
Q

how does haemoglobin become resistant to malaria

A

inherited disorders of HB structure and function

42
Q

what variants are present at substantial frequencies in any population, in the HbB gene

A

S, C, E

43
Q

what does S variant lead to

A

sickle cell anaemia

44
Q

what does C variant lead to

A

?

45
Q

what does E variant lead to

A

lover levels of HbB and mRNA

human genetics (9 decks)

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