| Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. | |
MedLine Citation:
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PMID: 1453423 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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:
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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:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of medical genetics Volume: 29 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1992 Nov |
Date Detail:
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Created Date: 1993-01-07 Completed Date: 1993-01-07 Revised Date: 2013-04-15 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 766-9 Citation Subset: IM |
Affiliation:
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Department of Anatomy, Charing Cross and Westminster Medical School, London. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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 | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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