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78 Cards in this Set
- Front
- Back
alignment
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permits identification of SNPs in homologous DNA sequenes
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ApoE haplotype tree
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branches denote base substitutions
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biological species concept
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also called the isolation species concept
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exaptation
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describes utility of feathers for flying in birds
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founder-effect speciation
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kind of allopatric speciation
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gradualism
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accumulation of small quantitative changes leads to qualitative change
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identity by descent
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DNA replication without mutation
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mathematical models
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typically make unrealistic assumptions to facilitate study
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measured genotype approaches
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used to find quantitative trait loci
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p
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frequency of the homozygous genotype plus half the frequency of heterozygous genotypes for a particular allele
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parsimony-informative character
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two or more ingroup taxa share a derived state
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randomness in natural selection
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new variation does not necessarily favor organismal survival and reproduction
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reinforcement
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dubious claim that postzygotic isolation leads to evolution of premating isolation
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system of mating
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guides calculation of genotype frequencies given allelic frequencies; must be specified to calculate genotypic frequencies from frequencies of alleles in a population
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Tay-Sachs disease
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a genetically transmitted but not heritable phenotype
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haplotype
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set of identical haploid genomes for a specified unit of measurement
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clade/monophyletic group
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a group of two or more species that includes the most recent common ancestor of all group members and all descendants of that ancestor
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adaptation
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a trait that evolved by natural selection for a particular biological role
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mutation and genetic drift
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a pair of evolutionary forces that explain most evolutionary change measured in the hemoglobin beta pseudogene; a pair of evolutionary forces that explain most evolutionary change measured in fibrinopeptides
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dominance variance/ dominance genetic variance
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genetic variance minus the additive genetic variance for a single-locus model; nonadditive genetic variance in a single-losuc model
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fitness
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sufficient parameter for a quantatitive phenotype whose additive variance measures evolution by natural selection
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linkage disequilibrium
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populational parameter that permits SNP markers in a genome to scan to identify chromosomal regions that contribute to variation in a quantitative phenotype; allows genome scans to identify where QTLs occur in a genome but can be misleading in identifying which variable site within a locus actually causes phenotypic variation; non random association between allelic states of two SNP markers in haplotypes
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unit evolutionary period (UEP)
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evolutionary time needed for accumulation of 1% amino-acid sequence divergence of homologous proteins in diverging lineages; the separation time in millions of years required to evolve 1% amino acid sequence divergence between homologous proteins
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isolation by distance
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sewall wright's term for a geographic population structure in which most gene flow is between neighboring demes, and many generations are required for new mutations to become geographically widespread in a species; model of population structure in which geographically distant populations do not exchange alleles directly but may do so indirectly using intervening populations as "stepping stones"
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hardy weinberg equilibrium
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common name for the mathematical demonstration that mendelian heredity does not cause evolutionary change
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drosophila pseudoobscura
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branches of a haplotype tree of chromosome-3 gene orders denote paracentric inversions
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gene pool
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population of gene copies collectively shared by individuals of a deme; defined as either the gene copies collectively shared by individuals of a deme or the deme's population of potential gametes
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genotypic deviation
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average amount by which individuals of a specified genotype differ from the mean value of their population for a quantitative phenotype
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heritable phenotype
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often has no discrete alternative categories and no single gene necessary or sufficient to produce it
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inbreeding effective size
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inversely related to the prevalence of identity by descent among copies of homologous DNA in a population; populational parameter that measures strength of genetic drift on rates of identity by descent of copies of homologous DNA; a mathematical parameter used to measure the ave rate of coalescence of alleles in a population
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measured genotype approach
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permits estimating epistatic genetic variance for a quantitative trait only if genotypes are measured at two or more loci
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Mendelian inheritance
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hardy weinberg equilibrium shows that this does not cause evolution
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norm of reaction
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each six ApoE genotypes shows a wide range of cholosterol levels, with values overlapping among genotypes; the range of phenotypes associated with a particular genotype under varying environmental conditions and genetic backgrounds
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randomness of mutation
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newly arising alleles are not predominantly ones advantageous to the possessors
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sickle-cell anemia
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hemoglobin S allele is necessary but not sufficient for this disease
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SNP
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used in a genome scan to mark an entire genome in 10cM intervals
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mutation
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evolutionary force responsible for introducing the tay-sachs allele into the human population; destroys identity by descent of copies of homologous DNA; an evolutionary force whose main consequence is to introduce many rare alleles into a population
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epistasis/ genetic epistasis
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presence of an A1 allele at the LDLR locus prevents expression of phenotypic differences between the e3 and e4 alleles in genotypes at the ApoE locus
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heritability/ narrow-sense heritability
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additive genetic variance divided by total phenotypic variance
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ideal population
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characterized by constant size, even sex ratio, nonoverlapping generations, random mating, poisson-distributed fecundity, and no selection; mathematical reference point for evaluating effective population sizes of natural populations
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variance effective size
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populational parameter that measures strength of genetic drift on rates of random change of allelic frequency
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neutral alleles
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alternative sequences of homologous DNA that have no impact on any phenotype related to reproductive success
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functional density
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denotes the proportion of amino acid sites that perform specific function (including substrate recognition, active site for catalysis, ligand binding, and allosteric shifts) in a protein
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average (x-meanx)(y-meany)
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covariance between parent and offspring used by fischer to estimate additive genetic variance for a quantitative phenotype
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dn=do(1-2m)^n
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recurring migration between demes across many generations keeps their allele frequencies similar
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epistatic genetic variance
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measurable in candidate-locus studies only if genotypes at two or more loci are studied together
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gAB*gab does not equal gAb*gaB
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linkage disequilibrium
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genetic architecture
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number of varying loci affecting a quantitative trait and amounts of additive and nonadditive genetic variance
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genetic drift
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evolutionary properties include no direction, cumulative across generations, loss of alleles, and genetic divergence among isolated demes; evolutionary change caused by sampling error inherent of finite population size
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hemoglobin A/S genotype
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shows codominance of alleles for protein electrophoretic mobility
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inbreeding
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populational measure of the probability that gametes united in fertilization are identical by descent at a locus
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protein functional density
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inversely proportional to the probability that amino acid substitutions produce neutral alleles
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s^2
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measures width of the normal distribution of a quantitative phenotype in a population
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tree scan
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used to determine which of the SNP sites that differ among haplotypes for a candidate locus associate most strongly with phenotypic variation in a population
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(2Nmu)(1/2N)= mu
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describes the long-term rate of neutral evolution of a protein sequence
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phenylketonuria
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a human disease caused by interaction between a dietary condition and homozygosity for an enzyme deficiency, for which the dietary condition is common and the genetic condition rare
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scurvy
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a human disease caused by interaction between a dietary condition and homozygosity for an enzyme deficiency, for which the dietary condition is rare and the genetic condition common
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coronary artery disease
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a human disease of varying severity, which has heritability of 65% but for which no single environmental or genetic factor is either necessary or suffieient
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standard deviation
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square root of variance
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bottleneck
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general term for one or more generations of small size in the history of a population
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paracentric inversion
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kind of genetic change denoted by each branch of Dobzhansky and Sturtevant's haplotype tree of gene orders for chromosome 3 of drosophilis persimilis and D. pseudoobscura
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additive genetic variance
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equals the narrow-sense heritability multiplied by the total phenotypic variance
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average excess
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analytical assignment of a phenotype to a gamete
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bonellia
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illustrates the importance of environment on development of the adult phenotype
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broad-sense heritability
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ratio of the total genetic variance to phenotypic variance within a generation
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g(AB)g(ab)=g(Ab)g(aB)
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linkage equlibrium
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1/2N
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measures the strength of genetic drift in a population for an autosomal locus
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persistence of fetal hemoglobin
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shows epistatic interaction with the sickle-cell allele in some human populations
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(p^2 + 2pq)/ q^2
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ratio of a dominant to recessive phenotype in a population at HW equilibrium
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synonymous substitutions
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evolve more rapidly than nonsynonymous substitutions for protein-coding genes
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mean and variance/ mean and standard deviation
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two parameters needed to describe a normal distribution
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correlation/ correlation coefficient
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a standardized measure of covariance that varies from -1 to +1
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quantitative trait loci (QTL)
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varying genes that each make a small contribution to variation of a quantitative phenotype in a population
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single nucleotide polymorphism (SNP)
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a site in the genome at which two different bases occur as the common alternative alleles in a population
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gene flow
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movement of genes among demes of the same species by migration of individuals prior to mating
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founder effect/ founder event
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occurrence of a population bottleneck associated with establishment of a new geographic deme in the history of a population
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heterozygosity
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a name for the probability that two alleles selected at random from a population are not identical by descent
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F(sub ST)
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Sewall Wright's statistic used to express the proportion of allelic diversity partitioned among rather than within local populations of a species
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