Stack #174010
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| population genetics | Study of the distribution of alleles in populations and the factors that alter the frequency of alleles and genotypes
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| significance of population genetics | Gene discovery, Genetic counseling, Planning population screens,
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| allele | The alternative forms of a gene or DNA sequence.
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| What does an individual possess at autosomal locus? | two alleles, one inherited from their mother and one from their father.
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| SNPs are the main source of | human genetic variation
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| Types of alleles | SNPs, Short insertion/deletions, and Copy Number Variants
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| characteristics of SNPs | One nucleotide change, frequent, 1/1000 bp,
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| “functional” SNP | contributes to phenotype
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| examples of short tandem repeats | short tandem repeats as in Fragile X, Huntington Disease
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| haplotypes | Combinations of alleles at separate loci. on the same chromosome but at a distance where recombination does not occur freely
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| In general the number of haplotypes is | 2n, where n is the number of loci with two alleles each
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| Polymorphisms-definition | sum of the least common allele exceeds an arbitrary setpoint of 1%
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| Polymorphisms arise when | mutations increase in frequency in populations as a result of selection pressures or random genetic drift
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| If haplotype loci are very close | haplotypes may exists in a population at a frequency higher than would be expected with independent segregation
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| diseases can be associated with | alleles or haplotypes
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| copy number variants (CNVs) | Result from non-allelic homologous recombination-Common source of variation (~10%)
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| hardy weinberg law | allows one to calculate the frequency of alleles in a population if their genotype distribution is known or go from distribution of genotypes to compute allele frequencies
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| hardy weinberg assumes | 1. population is large and mates randomly 2. no new mutations 3. no selection against genotypes 4. no mixture with population with different allele frequencies
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| disruptions of H-W suggests | one of assumptions incorrect
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| both selection and genetic drift can affect | the frequency of an allele or haplotype population
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| migration and bottlenecks | results in some populations having higher frequencies of deleterious alleles that characterize them for certain disease risks
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| Grouping of human populations can | predict genetic variation
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| Typographical | race (skin color)
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| Discontinuous | ethnic (culture)
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| clinical | geography
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| Allele frequency | Fraction of total population that carries a particular allele
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| Most human genetic variation occurs as | SNPs and most SNPs only have two alleles
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| The sum total of allele frequencies in a population | must be 1. Therefore
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| Humans are diploid so how may genotypes possible | there are three possible couplings or genotypes from a two allele SNP
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| Hardy-Weinburg equilibrium | p2 + 2pq + q2 = 1 (where p + q = 1) Use in estimating heterozygote frequency for rare alleles
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| If q2 is small | (< 1/1000 then q ~ 0 and p ~ 1) Then the heterozygote frequency
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| genetic drift | frequency of allele varies from one generation to the next
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| Non-random mating | stratified populations
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| Stratified population | has sub-groups that are genetically isolated within the larger population. e.g. the Amish in US
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| Assortative matings | genetically isolated based on choosing a mate with a specific trait or background. e.g. race
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| Consequences of Consanguinity | 1) Directly affects GENOTYPE frequency (more aa than expected)
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| mutation | rate: one chance in a million of having a child with new mutation 2) Cause: faulty replication
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| Biological fitness is a measure of | fertility..f = 0; genetic lethal mutation causes infertility or death prior to reproductive period f = 1; no effect f > 1; a phenotype (and its genotype) selected for
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| genetic disorders with f<1 | direct effect on allele frequency
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| f<1 Why doesn’t the frequency of these diseases decrease? | High mutation rate; To be stable in the population the severity of the selection is offset by the mutation rate
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Created by:
knpearso
Popular Genetics sets