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Genes in human populations
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Population genetics: focus on allele
frequencies (the “gene pool” = all the
gametes in a big pot!)
Hardy-Weinberg calculations (e.g., p2 +
2pq + q2) assume:
– Mating is random (but there is stratification
and assortative mating)
– Population is large (if appropriately chosen!)
– No mutation (but there is)
– No migration (but migration occurs)
– No selection (but there can be selection)
DNA typing and forensics
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Common genetic polymorphisms
– RFLPs
– VNTRs
– Microsatellites
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For each variable locus, the frequency
of alleles in a population can be
determined - suspect typed for many
loci and probability of match determined
(exclusion criteria)
Conservation of genomic segments
(haplotypes): The “HapMap”
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In populations, it appears the the linear
order of alleles (“haplotype”) is
conserved in uninterrupted blocks or
“neighborhoods” that tend to be
inherited together, with recombination
occurring between them
Most population share common SNP
variants and haplotypes
Haplotype blocks and the tag SNPs that
identify them will form the HapMap