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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1988-6-16
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pubmed:abstractText |
By cloning the endpoints of a DMD-associated deletion, we have "jumped" 1100 kb from pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the Duchenne muscular dystrophy (DMD) gene. Both J66 and JBir are mapped by field-inversion gel electrophoresis and detect abnormal SfiI fragments in DMD patients and distal DMD-associated X; autosome translocations. Our long-range map extends the physical map of the DMD gene from 800 to 2000 kb (2 Mb) and increases the mapped portion of Xp21 to approximately 8 Mb. The position of the glycerol kinase gene and the adrenal hypoplasia locus are further confined to the region between J66 and the nearest distal probe L1-4. This region spans at least 1.5 Mb. The multiallelic J66 polymorphism has immediate application in the diagnosis of DMD and generally appears to be distal to DMD mutations.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0888-7543
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
329-36
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:2896627-Chromosome Deletion,
pubmed-meshheading:2896627-DNA,
pubmed-meshheading:2896627-Genetic Markers,
pubmed-meshheading:2896627-Humans,
pubmed-meshheading:2896627-Male,
pubmed-meshheading:2896627-Muscular Dystrophies,
pubmed-meshheading:2896627-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2896627-Spermatozoa,
pubmed-meshheading:2896627-Translocation, Genetic,
pubmed-meshheading:2896627-X Chromosome
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pubmed:year |
1987
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pubmed:articleTitle |
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker.
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pubmed:affiliation |
Department of Human Genetics, Sylvius Laboratories, State University of Leden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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