A GLOBAL HAPLOTYPE ANALYSIS OF THE MYOTONIC-DYSTROPHY LOCUS - IMPLICATIONS FOR THE EVOLUTION OF MODERN HUMANS AND FOR THE ORIGIN OF MYOTONIC-DYSTROPHY MUTATIONS
Sa. Tishkoff et al., A GLOBAL HAPLOTYPE ANALYSIS OF THE MYOTONIC-DYSTROPHY LOCUS - IMPLICATIONS FOR THE EVOLUTION OF MODERN HUMANS AND FOR THE ORIGIN OF MYOTONIC-DYSTROPHY MUTATIONS, American journal of human genetics, 62(6), 1998, pp. 1389-1402
Haplotypes consisting of the (CTG)(n) repeat, as well as several flank
ing markers at the myotonic dystrophy (DM) locus, were analyzed in nor
mal individuals from 25 human populations (5 African, 2 Middle Eastern
, 3 European, 6 East Asian, 3 Pacific/Australo-Melanesian, sind 6 Amer
indian) and in five nonhuman primate species. Non-African populations
have a subset of the haplotype diversity present in Africa, as well as
a shared pattern of allelic association. (CTG)(18-35) alleles (large
normal) were observed only in northeastern African and non-African pop
ulations and exhibit strong linkage disequilibrium with three markers
flanking the (CTG)(n) repeat. The pattern of haplotype diversity and l
inkage disequilibrium observed supports a recent African-origin model
of modern human evolution and suggests that the original mutation even
t that gave rise to DM-causing alleles arose in a population ancestral
to non-Africans prior to migration of modern humans out of Africa.