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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1991-8-2
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pubmed:abstractText |
We have examined the linkage of two new polymorphic DNA markers (D19S62 and D19S63) and a previously unreported polymorphism with an existing DNA marker (ERCC1) to the myotonic dystrophy (DM) locus. In addition, we have used pulsed-field gel electrophoresis to obtain a fine-structure map of this region. The detection of linkage disequilibrium between DM and one of these markers (D19S63) is the first demonstration of this phenomenon in a heterogeneous DM population. The results suggest that at least 58% of DM patients in the British population, as well as those in a French-Canadian subpopulation, are descended from the same ancestral DM mutation. We discuss the implications of this finding in terms of strategies for cloning the DM gene, for a possible role in modification of risk for prenatal and presymptomatic testing, and we speculate on the origin and number of existing mutations which may result in a DM phenotype.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-1672160,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-1969144,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-1969145,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-1971149,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-1975560,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2309701,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2330114,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2562820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2570021,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2575588,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2591962,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2613241,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2676376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2714797,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2907504,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-2924206,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-3400641,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-3455910,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-3482421,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-3538420,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-6312838,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-6587361,
http://linkedlifedata.com/resource/pubmed/commentcorrection/2063878-6595199
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
68-75
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:2063878-Chromosomes, Human, Pair 19,
pubmed-meshheading:2063878-Genetic Markers,
pubmed-meshheading:2063878-Genotype,
pubmed-meshheading:2063878-Humans,
pubmed-meshheading:2063878-Linkage Disequilibrium,
pubmed-meshheading:2063878-Myotonic Dystrophy,
pubmed-meshheading:2063878-Polymorphism, Genetic,
pubmed-meshheading:2063878-Software
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pubmed:year |
1991
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pubmed:articleTitle |
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker.
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pubmed:affiliation |
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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