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Population Genetics Quiz #1 > Definitions > Flashcards

Definitions Flashcards

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0
Q

Alleles

A

Different forms of a gene or DNA sequence in the same location

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1
Q

Locus

A

The position in a chromosome where a specific gene or other structure occurs; they can vary in length

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2
Q

Neutral alleles

A

Alleles that do not have any noticeable physical effects

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3
Q

Population genetics

A

The study of how evolutionary forces result in genetic changes in species through time within and between populations

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4
Q

Evolution

A

Change in allele frequency over time

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5
Q

Nucleotide diversity

A

Probability that two nucleotides are different when comparing two different DNA sequences

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6
Q

Biological definition of race

A

A group of individuals more closely related to one another than to those outside their group- not really viable in human groups as they are more related to those outside their group than to their own group

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7
Q

Synonymous mutation

A

Result in no amino acid change - could change the sequence/codon but not the overall amino acid

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8
Q

Nonsynonymous mutation

A

Results in amino acid change- could change structure of protein or turn on/off a gene

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9
Q

Loss of function mutation

A

Mutation resulting in the Los of a function of a gene

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10
Q

Gain of function mutation

A

Mutation that results in a gain of a new function of a gene

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11
Q

Lethal mutation

A

Mutations that result in the death of an organism

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12
Q

Genome

A

The whole hereditary information encoded in the DNA

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13
Q

Genotype

A

Genetic constitution; the allele makeup of a locus

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14
Q

Phenotype

A

The observable characteristics of an organism

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15
Q

Gene pool

A

The aggregate of all genes in the population without reference to the individuals who carry them

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16
Q

Parameter

A

Fixed numerical constants estimated from a sample chosen to represent the entire population

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17
Q

Discrete variation

A

Phenotypic differences among organisms can be assigned to a small number of clearly distinct classes: hair color, grade, age, gender

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18
Q

Continuous variation

A

Phenotypes of organisms are measured on a quantitative scale, like height or weight and in which Phenotypes scale imperceptibly from one category to the next

Attributed to multiple genes and gene environment

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19
Q

Sample

A

A representative of a population used to estimate parameters

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20
Q

Monomorphic

A

Absence if variation, every copy of the locus in the population has the same nucleotide sequence

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21
Q

Polymorphic

A

More than one common allele at the locus; a polymorphism is an allele that is in too high a frequency to be a new mutation

Polymorphic if the most common allele has a frequent below 95%

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22
Q

Gene diversity

A

Defined as the probability that you will get different alleles if you draw two copies of the locus at random from the gene pool

H= 1-€pi^2

23
Q

Gene identity

A

The probability that you draw identical alleles If you draw two copies of the locus at random from gene pool

J= 1-H

24
Q

Effective number of alleles

A

Reciprocal of gene identity; the effective number of alleles is he number of equally frequent alleles that would provide a given level of gene diversity

Ne= 1/€pi^2

25
Q

Segregating sites

A

The number of nucleotide sites that are different for a particular set of aligned sequences

26
Q

Repetitive DNA sequences (STRs)

A

Short tandem repeats posses runs of simple nucleotide motifs

27
Q

Ascertainment bias

A

Systematic distortion in measuring the true frequency of a phenomenon due to the way in which the data are collected

Ex. Affluent euroamericans versus the rest of the population

28
Q

Local populations/Mendelian populations

A

Interbreeding units often geographically defined but can be empirically verified

29
Q

Hardy-Weinberg principal

A

States that the genotype frequencies in a population remain constant (equilibrium) from generation to generation unless specific disturbing influences are introduced-

Such as: finite populations, nonrandom mating, genetic drift, gene flow, natural selection, mutation

30
Q

Haplotypes

A

Gamete types- collection of specific alleles in a cluster of tightly-linked genes on a chromosome that are likely to be inherited together

31
Q

Gametic phase disequilibrium

A

Term used to specify physically linked, nonrandom association of alleles on the same chromosome

32
Q

Binomial coefficient

A

The number of ways one can choose k objects from among a given set of n objects without replacement

33
Q

Binomial probability

A

The probability of several successes if there is only two possible outcomes (success or failures)

34
Q

Random genetic drift

A

The process of change by natures random sampling coined by Sewell wright

35
Q

Inbreeding versus incest

A

Incest more do a cultural phenomena versus inbreeding which is consanguineous - level of heterozygosity in a population

36
Q

Autozygous

A

Homozygous by descent

37
Q

Allozygous

A

Either homozygous by state or heterozygous

38
Q

Population

A

A group of people who share a common gene pool

39
Q

Four forces of evolution

A

Natural selection - the prices that produces adaptation
Gene flow - flow of genetic material between populations (gene migration)
Genetic drift- natures sampling effect- changes in allele frequency that occur at random (eliminates variation through time)
Mutation- a change in a DNA sequence usually caused by an error in repair or replication

40
Q

Bottleneck effect

A

An evolutionary event (environmental, I.e. Earthquakes, fire, flood, etc.) that drastically reduces the size of a population and therefore genetic diversity due to smaller gene pool and therefor less variation

41
Q

Founder effect

A

The loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population

42
Q

Fisher-wright model/population

A

Idealized population in which incoming variation due to mutation is in equilibrium with outgoing variation due to genetic drift

43
Q

3 major features of human genetic diversity

A
  1. The amount of diversity in humans is much Lower than that typically expected for a population of 6 billion people (level of variation resembles that of a population with only 20,000 people)
  2. The genetic variation of the people outside subsaharan Africa is mostly a subset of the genetic variation within subsaharan Africa
  3. If an allele is common in one population it is typically common throughout the world
44
Q

Biological population concept

A

A group of individuals from the same species who expecting barriers imposed by sex and developmental stage are likely to mate and reproduce

45
Q

Law of dominance

A

Some alleles are dominate while others are recessive; individuals with at least one dominant allele will exhibit that phenotype

46
Q

Law do independent segregation

A

One particle from each parent

47
Q

Law of independent assortment

A

Chromosomes are distributed randomly into gametes during meiosis, each of which is equally likely to be transmitted when gametes are formed

48
Q

Non-Mendelian inheritance

A

Means not inherited from mom and dad:

  1. Mitochondria- haploid does not require from mom and dad
  2. Infectious inheritance - endogenous retroviruses inserts itself in genome
  3. Imprinting - turning on and off of genes (epigenetics)
  4. Mosaicism - large mutation evens and repeat connected disorders
49
Q

Random union of gametes

A

Essentially a punnett square

Provides a good approximation for the genotype frequencies

50
Q

Type 1 error

A

False positive - said it was significant when it actually wasn’t

51
Q

Type 2 error

A

False negative - didn’t reject but should have (if had a larger sample size)

This is worse than type 1 error

52
Q

Linkage disequilibrium

A

Statistical association - represents the nonrandom association of alleles at different loci

More recombination = less disequilibrium

Ld leads to haplotype association, information and leads to prediction (one allele provides info about other alleles)

53
Q

Chi square

A

If value is significant it means that it meets the assumptions of hardy-Weinberg equilibrium

If null hypothesis cannot be rejected, then there was no diff or you need a bigger sample size

54
Q

Coefficient D

A

LD coefficient - function of haplotype frequencies

Equals 0 at equilibrium
Whole r increases, d decreases

55
Q

Absorption state

A

When looking at allele frequencies through generations, the allele can either be lost (reach 0.0 frequency) or fixed (reach 1.0 frequency) in a local population solely from genetic drift

Population Genetics Quiz #1 (1 decks)

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