Detection of Heterozygotes for Intragenic Deletions in Families with Recurrence of Duchenne or Becker Muscular Dystrophy
نویسندگان
چکیده
More than 60% of Duchenne/Becker muscular dystrophy (DMD/BMD) cases is due to deletions in the dystrophin gene, therefore the large majority of female carriers is heterozygote for an intragenic deletion. A new protocol is presented here for detection of these heterozygotes, based on multiplex semi-quantitative PCR amplification of genomic DNA. The method is non-radioactive, fast and easy to perform. The technique was successfully applied to a series of 60 females from DMD/BMD families, in which polymorphic DNA markers failed to define the carrier status.
منابع مشابه
Molecular Analysis of Iranian Patients with Duchenne/Becker Muscular Dystrophies
Duchenne Muscular Dystrophy (DMD) and the milder allelic Becker Muscular Dystrophy (BMD) are X-linked disorders. Both DMD & BMD result from heterogenous mutation in the dystrophin gene and in about 65% of the cases one or more exons of the gene are deleted or duplicated. One third of cases arise from new mutation and the rest are familial. To analyze the prevalence of deletion in Iranian patien...
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The application of molecular diagnostic techniques has greatly improved the diagnosis, carrier detection, prenatal testing and genetic counseling for families with Duchenne and Becker muscular dystrophy (D/BMD) in India. The prediction of Duchenne muscular dystrophy (DMD) patients to have out-framed deletions and Becker's muscular dystrophy (BMD) patients to have in-frame deletions of dystrophi...
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The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is allelic to DMD. About 33% of all patients are due to de novo mutations and germ line mosaicism is...
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