Document Detail

New founder haplotypes at the myotonic dystrophy locus in southern Africa.
MedLine Citation:
PMID:  7762560     Owner:  NLM     Status:  MEDLINE    
The association between normal alleles at the CTG repeat and two nearby polymorphisms in the myotonin protein kinase gene, the Alu insertion/deletion polymorphism and the myotonic dystrophy kinase (DMK)(G/T) intron 9/HinfI polymorphism, has been analyzed in South African Negroids, a population in which myotonic dystrophy (DM) has not been described. South African Negroids have a CTG allelic distribution that is significantly different from that in Caucasoids and Japanese: the CTG repeat lengths of > or = 19 are very rare. The striking linkage disequilibrium between specific alleles at the Alu polymorphism (Alu(ins) and Alu(del)), the HinfI polymorphism (HinfI-1 and HinfI-2), and the CTG repeat polymorphism seen in Caucasoid (Europeans and Canadians) populations was also found in the South African Negroid population. Numerous haplotypes, not previously described in Europeans, were, however, found. It thus seems likely that only a small number of these "African" chromosomes were present in the progenitors of all non-African peoples. These data provide support for the "out of Africa" model for the origin of modern humans and suggest that the rare ancestral DM mutation event may have occurred after the migration from Africa, hence the absence of DM in sub-Saharan Negroid peoples.
A Goldman; M Ramsay; T Jenkins
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  56     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Jun 
Date Detail:
Created Date:  1995-06-28     Completed Date:  1995-06-28     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1373-8     Citation Subset:  IM    
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Witwatersrand, Johannesburg.
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MeSH Terms
Africa, Southern / epidemiology
African Continental Ancestry Group / genetics*
Base Sequence
Europe / epidemiology
European Continental Ancestry Group / genetics
Founder Effect*
Linkage Disequilibrium
Molecular Sequence Data
Myotonic Dystrophy / epidemiology,  genetics*
Protein-Serine-Threonine Kinases / genetics*
Repetitive Sequences, Nucleic Acid / genetics*
Reg. No./Substance:
EC 2.7.1.-/myotonic dystrophy protein kinase; EC Kinases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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