LD原理以及计算公式.pdfVIP

February 22, 2005 Bio 107/207 Winter 2005 Lecture 15 Linkage disequilibrium and recombination - in our treatment of population genetics up to this point we have assumed that the transmission of alleles at a given locus across generations are independent of alleles at a second locus. - we have also assumed that the fitnesses of genotypes at one locus are not affected by genotypes at another locus. - both of these assumptions are likely to be violated for a reasonable number loci. - when genetic variation at two or more loci is considered simultaneously, allele frequencies are not sufficient to describe their dynamics in natural populations. - it becomes necessary to deal with the extent of non-random associations of alleles at different loci. - the non-random associations of alleles at different loci is called gametic phase disequilibrium or, more simply, linkage disequilibrium. What is linkage disequilibrium? Linkage equilibrium occurs when the genotype present at one locus is independent of the genotype at a second locus. Linkage disequilibrium occurs when genotypes at the two loci are not independent of another. - the term linkage disequilibrium is misleading for two reasons. - first, non-random associations of alleles at two loci can occur even if the two genes are unlinked. - second, just because two loci are linked this does not mean that they will be in linkage disequilibrium. Measuring linkage disequilibrium - consider two loci (A and B), each segregating for two alleles (A , A , B , and B ) 1 2 1 2 - there are four possible gametes (or haplotypes) present in the population: Gamete Frequency A1B1 x11