title: [Diagnosis of pseudohypertrophic muscular dystrophy with multiplex polymerase chain reaction (PCR)].
abstract: As a simple and efficient molecular-biological method is widely used in gene diagnosis of hereditary diseases. Multiplex PCR with 9 pairs of primers developed by Chamberlain et al is able to simultaneously amplify 9 loci in the gene for Duchenne and Becker muscular dystrophy thus to detect the intragenic deletions. Here we report on the results of studies on 17 cases of DMD/BMD with multiplex PCR. Of 17 DMD/BMD 8 deletions (47 percent) have been detected. The deletions are concentrated on 6.5-8.0 Kb area of the cDNA map as well as the area detected by probe 7 and 8. These results is similar to those obtained by Chamberlain et al from more than 200 cases, and indicate that since the high mutation loci of DMD/BMD are common in Chinese and Europeanese the primers we used in present studies are applicable to diagnosis of DMD/BMD in China. Because of the simplicity of the multiplex PCR technique it will find more widely application in the diagnosis of DMD/BMD as well as of other inheritable diseases.
authors.affiliation: Department of Medical Genetics, West China University of Medical Science, Chengdu.
authors.forename: J
authors.initials: J
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis*; D016133:Polymerase Chain Reaction / Q000379:methods