A Global Haplotype Analysis of the Myotonic Dystrophy Locus: Implications for the Evolution of Modern Humans and for the Origin of Myotonic Dystrophy Mutations
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 no...
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Published in | American journal of human genetics Vol. 62; no. 6; pp. 1389 - 1402 |
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Main Authors | , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Chicago, IL
Elsevier Inc
01.06.1998
University of Chicago Press |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0002-9297 1537-6605 |
DOI: | 10.1086/301861 |