Document Detail


Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations.
MedLine Citation:
PMID:  1453423     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gene amplification using polymerase chain reaction (PCR) was carried out on DNA samples from a total of 92 normal subjects and 52 subjects with myotonic dystrophy (DM) from European and Japanese populations, to determine the copy number of the CTG repeat associated with DM for each group. In the two populations, the number of repeats on normal chromosomes only were compared, as CTG copy number on DM chromosomes was difficult to determine by PCR alone. In this study, normal chromosomes were found which had as many as 35 copies of the repeat, which is larger than the normal range reported previously but still does not overlap with the repeat number associated with DM pathology, which is at least 50 copies. Using data from normal chromosomes from unrelated subjects, the frequencies of five, 11, and 13 copies of the CTG repeat were found to be significantly different between the two populations, with five and 11 copies more commonly seen in the European population and 13 copies in the Japanese population. This difference may be the result of natural divergence of the normal chromosomes between the population groups.
Authors:
J Davies; H Yamagata; P Shelbourne; J Buxton; T Ogihara; P Nokelainen; M Nakagawa; R Williamson; K Johnson; T Miki
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  29     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1992 Nov 
Date Detail:
Created Date:  1993-01-07     Completed Date:  1993-01-07     Revised Date:  2013-04-15    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  766-9     Citation Subset:  IM    
Affiliation:
Department of Anatomy, Charing Cross and Westminster Medical School, London.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Base Sequence
DNA Mutational Analysis
Europe / epidemiology
Female
Gene Frequency
Humans
Japan / epidemiology
Male
Myotonic Dystrophy / epidemiology*,  genetics*
Pedigree
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid*
Comments/Corrections

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