Week 4- Population genetics Flashcards

(45 cards)

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

24
Q

what are the two types of genetic markers of Y chromosomes

A
  • Y-STRs
  • Y-SNPs
25
what is mtDNA
matrilineal
26
what is typically sequenced
control region of the mtDNA
27
what is the haplogroup assigned by
the presence of specific DNA mutations
28
what is SNP
single nucleotide polymorphism
29
what is a haplotype
can refer to a combination of alleles or set of SNPs
30
what is haplogroup
group of people who share a common ancestor on the patriline or matriline
31
what has driven evolutionary change
- viruses - positive natural selection
32
what is 8% of the human genome compromised of
retroviruses at various stages of fossilisation
33
what is retroviruses at various stages of fossilisation
- non-coding DNA - Human endogenous retrovirus
34
what is human endogenous retroviruses
Endogenous viral elements in the genome that closely resemble and can be derived from retroviruses
35
why are hERVs incapable of replication and contain major deletion or nonsense mutations
because they are merely traces of original viruses, having first integrated millions of years ago
36
what is syncytin
domestication of a retroviral envelope gene env
37
what does syncytin do
mediate nutrient transfer from the to the developing embryo in placental mammals
38
why do all infants have a high lactase enzyme activity
to digest the sugar lactose in milk
39
when does lactase enzyme activity decline in most humans
after weaning
40
which genes can become resistant to malaria
- haemoglobin - enzymopathies - RBC antigens - immune genes
41
how does haemoglobin become resistant to malaria
inherited disorders of HB structure and function
42
what variants are present at substantial frequencies in any population, in the HbB gene
S, C, E
43
what does S variant lead to
sickle cell anaemia
44
what does C variant lead to
?
45
what does E variant lead to
lover levels of HbB and mRNA