Distribution of dystrophin gene deletions in a Chinese population
نویسندگان
چکیده
منابع مشابه
Distribution of dystrophin gene deletions in a Chinese population
OBJECTIVE To describe the deletion patterns and distribution characteristics of the dystrophin gene in a Chinese population of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). METHODS Patients with DMD/BMD were recruited. Deletions in 19 exons of the dystrophin gene were evaluated using accurate multiplex polymerase chain reaction (PCR). RESULT Multiplex P...
متن کاملPGD for dystrophin gene deletions using fluorescence in situ hybridization.
Duchenne muscular dystrophy and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene (Xp21). In two-thirds of DMD/BMD cases, the mutation is a large deletion of one or several exons. We have established PGD for DMD/BMD using interphase fluorescence in situ hybridization (FISH) analysis on single nuclei from blastomeres for the detection of deletions of specific...
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We have analysed 38 DMD patients from 34 families and 30 BMD patients from 12 families using the cDNA probes Cf23a and Cf56a, which map near the centre of the dystrophin gene, and Cf115, which is close to the 3' end of this gene. Together, probes Cf23a and Cf56a detected deletions in 50% of the DMD families and 33% of the BMD families. Probe Cf115 detected a deletion in only one DMD patient, wh...
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ژورنال
عنوان ژورنال: Journal of International Medical Research
سال: 2016
ISSN: 0300-0605,1473-2300
DOI: 10.1177/0300060515613223