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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1998-6-24
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pubmed:abstractText |
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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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0002-9297
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1389-402
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pubmed:dateRevised |
2008-11-20
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pubmed:meshHeading |
pubmed-meshheading:9585589-Alleles,
pubmed-meshheading:9585589-Animals,
pubmed-meshheading:9585589-Evolution, Molecular,
pubmed-meshheading:9585589-Gene Frequency,
pubmed-meshheading:9585589-Haplotypes,
pubmed-meshheading:9585589-Humans,
pubmed-meshheading:9585589-Linkage Disequilibrium,
pubmed-meshheading:9585589-Mutation,
pubmed-meshheading:9585589-Myotonic Dystrophy,
pubmed-meshheading:9585589-Primates,
pubmed-meshheading:9585589-Trinucleotide Repeats
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pubmed:year |
1998
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pubmed:articleTitle |
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations.
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pubmed:affiliation |
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, U.S. Gov't, Non-P.H.S.,
Research Support, Non-U.S. Gov't
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