| Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction. | |
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MedLine Citation:
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PMID: 1811098 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Polymerase chain reaction (PCR)-based diagnosis was carried out in 62 patients (57 probands) with Duchenne or Becker muscular dystrophy (DMD or BMD) and 226 members in 57 families. The PCR studies were also performed for carrier detection in 57 mothers and 58 sisters, and prenatal diagnosis of 4 fetuses at risk of DMD. The PCR with 7 sets of primers, which amplify 7 different exon-sequences of the dystrophin gene, detected gene deletion of at least one exon in 49% of the probands. The PCR with the other 4 primer sets, which amplify 3 intragenic loci, and subsequent endonuclease digestion detected in 84% of the mothers a heterozygous pattern in at least one such locus/segment. Using the same primer sets, carrier detection was successful in 5 sisters of familial DMD cases, while recombination between the ERT87 and the 3' end intragenic loci was observed in 11% of family members studied. Prenatal diagnosis was made in all the 4 fetuses; two males were affected, one male fetus non-affected, and the remaining one female fetus a carrier. Thus, the PCR study and the primers used in the present study are useful and convincing for rapid diagnosis of DMD and/or BMD. |
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Authors:
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S Fujishita; N Shibuya; N Niikawa; S Nagataki |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Jinrui idengaku zasshi. The Japanese journal of human genetics Volume: 36 ISSN: 0021-5074 ISO Abbreviation: Jinrui Idengaku Zasshi Publication Date: 1991 Dec |
Date Detail:
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Created Date: 1992-06-04 Completed Date: 1992-06-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0420105 Medline TA: Jinrui Idengaku Zasshi Country: JAPAN |
Other Details:
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Languages: eng Pagination: 317-24 Citation Subset: IM |
Affiliation:
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Department of Neurology, Kawatana National Hospital, Nagasaki, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Chromosome Deletion* Dystrophin / genetics* Female Fetal Diseases / diagnosis, genetics* Gene Amplification* Heterozygote Detection Humans Male Molecular Sequence Data Muscular Dystrophies / diagnosis, genetics* Polymerase Chain Reaction Pregnancy Prenatal Diagnosis* |
| Chemical | |
Reg. No./Substance:
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0/Dystrophin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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