Document Detail


Gene-deletion and carrier detections, and prenatal diagnosis of Duchenne muscular dystrophy by analysis of the dystrophin gene amplified by polymerase chain reaction.
MedLine Citation:
PMID:  1811098     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
S Fujishita; N Shibuya; N Niikawa; S Nagataki
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  1992-06-04     Completed Date:  1992-06-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0420105     Medline TA:  Jinrui Idengaku Zasshi     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  317-24     Citation Subset:  IM    
Affiliation:
Department of Neurology, Kawatana National Hospital, Nagasaki, Japan.
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MeSH Terms
Descriptor/Qualifier:
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:
0/Dystrophin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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