Copyright © 1998 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 62, Issue 6, 1389-1402, 1 June 1998
doi:10.1086/301861
A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
S.A. Tishkoff1, *, A. Goldman2, F. Calafell1, W.C. Speed1, A.S. Deinard1, B. Bonne-Tamir3, J.R. Kidd1, A.J. Pakstis1, T. Jenkins2 and K.K. Kidd1, 
, 
1 Department of Genetics, Yale University School of Medicine, New Haven;
2 Department of Human Genetics, School of Pathology, South African Institute for Medical Research, University of the Witwatersrand, Johannesburg
3 Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv
Address for correspondence and reprints: Dr. Kenneth K. Kidd, Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520-8005∗ Present affiliation: Department of Biology, Pennsylvania State University, University Park.
Abstract
Haplotypes consisting of the (CTG)n repeat, as well as several flanking markers at the myotonic dystrophy (DM) locus, were analyzed in normal individuals from 25 human populations (5 African, 2 Middle Eastern, 3 European, 6 East Asian, 3 Pacific/Australo-Melanesian, and 6 Amerindian) 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 populations and exhibit strong linkage disequilibrium with three markers flanking the (CTG)n repeat. The pattern of haplotype diversity and linkage disequilibrium observed supports a recent African-origin model of modern human evolution and suggests that the original mutation event that gave rise to DM-causing alleles arose in a population ancestral to non-Africans prior to migration of modern humans out of Africa.
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