Population genetics Flashcards

1
Q

Gene pool

A

all alleles at that locus acros the population

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2
Q

Hardy-Weinberg distribution

A

characterizes the distributions of genotype frequencies of p and q in populations that are not evolving, and is thus the fundamental null model for population genetics.
- used for predicting risks in genetic counseling

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3
Q

mendilian segregation

A

A dominant allele hides a recessive allele and determines the organism’s appearance. When an organism makes gametes, each gamete receives just one gene copy, which is selected randomly.

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4
Q

Linkage disequilibrium

A

term coined to describe the non-random association between alleles of genetic loci that lie in proximity to each other.

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5
Q

SNP

A

Single nucleotide polymorphism

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6
Q

Genetic drift

A

the change in frequency of an existing gene variant in the population due to random chance. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation

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7
Q

Effective population size

A

Ne, is the size of an ideal population, that would give the same amount of drift as the actual population

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8
Q

Population mutation parameter

A

measures the diversity per nucleotide site that is expected due to the balance between mutation creating new alleles and drift in absence of selection

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9
Q

Genetic bottleneck/ founder effect (island)

A

Diversity in subsequent generations is reduced, and allele frequencies may differ significantly

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10
Q

epigenetic factors

A

collection of chemical modifications and molecular processes that can influence gene expression without altering the underlying DNA sequence

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11
Q

Envirommental factors

A

encompass a wide range of external influences and conditions that can impact an organism’s development, health, and overall well-being.

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12
Q

nonsynonymous substitutions

A

Nonsynonymous substitutions, also known as non-silent or amino acid-changing substitutions, refer to genetic mutations or changes in DNA sequence that result in a different amino acid being incorporated into a protein during protein synthesis.

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13
Q

synonymous substitutions

A

Synonymous substitutions, also known as silent or synonymous mutations, refer to genetic mutations or changes in DNA sequence that do not result in any change in the amino acid sequence of the protein.

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14
Q

Selective sweep

A

phenomenon in population genetics and evolutionary biology that occurs when a specific genetic variant or allele increases in frequency within a population due to positive natural selection

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15
Q

coefficient of selection

A

quantifies the strength of natural selection acting on a specific genotype or allele in a population, where positive values indicate negative selection (reduced fitness) and negative values indicate positive selection (increased fitness).

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16
Q

assortative mating

A

nonrandom mating based on phenotypes rather than between relatives

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17
Q

Consanguinity

A

the kinship of two individuals characterized by the sharing of common ancestor(s

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18
Q

Coefficient of inbreeding

A

Terms of the probability of identity in state of different pairs of genes

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19
Q

Coefficient of relationship

A

a measure of the degree of consanguinity (or biological relationship) between two individuals

20
Q

Negative selection

A

the natural process by which deleterious alleles are selectively purged from the populatio

21
Q

Missense mutations

A

is a DNA change that results in different amino acids being encoded at a particular position in the resulting protein.

22
Q

Positive selection

A

the process by which new advantageous genetic variants sweep a population

23
Q

Heteroplasmy

A

the existence of more than one extranuclear (mitochondrial or chloroplast) DNA sequence type in a cell, tissue or organism

24
Q

Mutagens

A

a chemical or physical agent capable of inducing changes in DNA called mutations.

25
Q

Base-excision repair

A
26
Q

Single-strand break repair

A
27
Q

Nucleotide-excision repair

A
28
Q

Homologous recombination mediated DNA repair

A
29
Q

Nonhomologous end-joining

A
30
Q

ttranslesion synthesis

A
31
Q

indel

A
32
Q

Translocations

A
33
Q

inversions

A
34
Q

copy number variation

A
35
Q

SINEs

A
36
Q

LINEs

A
37
Q

De novo mutations

A
38
Q

Alternative RNA splicing

A
39
Q

Innate immune system

A
40
Q

Adaptive immune system

A
41
Q

Immuglobulins

A
42
Q

D-J joining (somatic recombination I)

A
43
Q

V-D-J joining (somatic recombination II)

A
44
Q

Protein chain combinatorial diversity

A
45
Q

Junctional diversity

A
46
Q

Somatic hypermutation

A