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PMID: 2573997 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

American journal of human genetics ·Vol. 45 ·No. 6 ·1989-12-00 ·Pages 835-47

Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ

Abstract

We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 deletions and 11 duplications could be precisely mapped in relation to both the mRNA and the major and minor mutation hot spots. Junction fragments, ideal markers for carrier detection, were found in 23 (17%) of the 128 cases. We identified eight new cDNA RFLPs within the DMD gene. With the use of cDNA probes we have completed the long-range map of the DMD gene, by the identification of a 680-kb SfiI fragment containing the gene's 3' end. The size of the DMD gene is now determined to be about 2.3 million basepairs. The combination of cDNA hybridizations with long-range analysis of deletion and duplication patients yields a global picture of the exon spacing within the dystrophin gene. The gene shows a large variability of intron size, ranging from only a few kilobases to 160-180 kb for the P20 intron.

MeSH Terms
Chromosome Deletion DNA/genetics DNA Probes Dystrophin Exons Genetic Carrier Screening Humans Introns Multigene Family Muscle Proteins/genetics Muscular Dystrophies/genetics Mutation Polymorphism, Restriction Fragment Length Restriction Mapping
Chemicals
DNA Probes Dystrophin Muscle Proteins DNA
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Den Dunnen J T
Department of Human Genetics, State University Leiden, The Netherlands.
Grootscholten P M
Bakker E
Blonden L A
Ginjaar H B
Wapenaar M C
van Paassen H M
van Broeckhoven C
Pearson P L
van Ommen G J
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1989-12-00
Pages
835-47
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683480
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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