Definitions

Question 0

Alleles

Answer 0

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

Question 1

Locus

Answer 1

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

Question 2

Neutral alleles

Answer 2

Alleles that do not have any noticeable physical effects

Question 3

Population genetics

Answer 3

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

Question 4

Evolution

Answer 4

Change in allele frequency over time

Question 5

Nucleotide diversity

Answer 5

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

Question 6

Biological definition of race

Answer 6

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

Question 7

Synonymous mutation

Answer 7

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

Question 8

Nonsynonymous mutation

Answer 8

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

Question 9

Loss of function mutation

Answer 9

Mutation resulting in the Los of a function of a gene

Question 10

Gain of function mutation

Answer 10

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

Question 11

Lethal mutation

Answer 11

Mutations that result in the death of an organism

Question 12

Genome

Answer 12

The whole hereditary information encoded in the DNA

Question 13

Genotype

Answer 13

Genetic constitution; the allele makeup of a locus

Question 14

Phenotype

Answer 14

The observable characteristics of an organism

Question 15

Gene pool

Answer 15

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

Question 16

Parameter

Answer 16

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

Question 17

Discrete variation

Answer 17

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

Question 18

Continuous variation

Answer 18

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

Question 19

Sample

Answer 19

A representative of a population used to estimate parameters

Question 20

Monomorphic

Answer 20

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

Question 21

Polymorphic

Answer 21

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%

Question 22

Gene diversity

Answer 22

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

Question 23

Gene identity

Answer 23

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

J= 1-H

Question 24

Effective number of alleles

Answer 24

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

Question 25

Segregating sites

Answer 25

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

Question 26

Repetitive DNA sequences (STRs)

Answer 26

Short tandem repeats posses runs of simple nucleotide motifs

Question 27

Ascertainment bias

Answer 27

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

Question 28

Local populations/Mendelian populations

Answer 28

Interbreeding units often geographically defined but can be empirically verified

Question 29

Hardy-Weinberg principal

Answer 29

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

Question 30

Haplotypes

Answer 30

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

Question 31

Gametic phase disequilibrium

Answer 31

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

Question 32

Binomial coefficient

Answer 32

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

Question 33

Binomial probability

Answer 33

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

Question 34

Random genetic drift

Answer 34

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

Question 35

Inbreeding versus incest

Answer 35

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

Question 36

Autozygous

Answer 36

Homozygous by descent

Question 37

Allozygous

Answer 37

Either homozygous by state or heterozygous

Question 38

Population

Answer 38

A group of people who share a common gene pool

Question 39

Four forces of evolution

Answer 39

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

Question 40

Bottleneck effect

Answer 40

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

Question 41

Founder effect

Answer 41

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

Question 42

Fisher-wright model/population

Answer 42

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

Question 43

3 major features of human genetic diversity

Answer 43

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

Question 44

Biological population concept

Answer 44

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

Question 45

Law of dominance

Answer 45

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

Question 46

Law do independent segregation

Answer 46

One particle from each parent

Question 47

Law of independent assortment

Answer 47

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

Question 48

Non-Mendelian inheritance

Answer 48

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

Question 49

Random union of gametes

Answer 49

Essentially a punnett square Provides a good approximation for the genotype frequencies

Question 50

Type 1 error

Answer 50

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

Question 51

Type 2 error

Answer 51

False negative - didn't reject but should have (if had a larger sample size) This is worse than type 1 error

Question 52

Linkage disequilibrium

Answer 52

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)

Question 53

Chi square

Answer 53

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

Question 54

Coefficient D

Answer 54

LD coefficient - function of haplotype frequencies Equals 0 at equilibrium Whole r increases, d decreases

Question 55

Absorption state

Answer 55

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