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- W2393178959 abstract "Objective Gene diagnosis and pedigree analysis were carried out in families of Duchenne and Becker muscular dystrophy(DMD and BMD) in order to determine haplotypes in the patients, carriers and normal offspring. Methods Deletion analysis of the patients was performed using multiplex polymerase chain reaction of amplification with 9 dystrophin exons described by Chamberlain et al. Allelic fragment length polymorphism analysis was made on DNA with PCR amplification using primers of intragenic short tandem repeat (STR) sequences (STR44、 STR45、 STR49 and STR50), primers of 5′ end (5′DYS II) and primers of 3′end (MZ18、 MZ19) in the members of the families. Results Deletions of exons as well as deletions of STR allelic fragments adjacent to the exon deletions were determined in two patients, hemizygosity at those loci was detected and carrier status ascertained in the mothers of the patients. The normal haplotypes were determined in some relatives of the patients. Deletion of allelic fragment of STR49 was found in a patient of the anather family with DMD and carrier status ascertained in the mother of the patient. No deletion was detected in the sporadic BMD family,but risk haplotype was determined. Conclusion The method of linkage analysis of STR sequence polymorphism can determine haplotypes at normal status or at risk status. It may be used in gene diagnosis, prenatal diagnosis and carrier detection in the families of Duchenne and Becker muscular dystrophy" @default.
- W2393178959 created "2016-06-24" @default.
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- W2393178959 date "2000-01-01" @default.
- W2393178959 modified "2023-09-23" @default.
- W2393178959 title "Gene diagnosis and pedigree analysis in families of Duchenne and Becker muscular dystrophy" @default.
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