title: [Rapid screening of the Duchenne muscular dystrophy gene deletion by two multiplex PCR].
abstract: Duchenne muscular dystrophy (DMD) is one of the most common lethal X-linked disorders. Partial intragenic deletions account for up to 60% of DMD deletions, and approximately one-third of all cases arise via new mutations. In this paper, two sets of primers were used for two multiplex PCR screenings of DMD gene deletions. The first set consists of 5 pairs of primers which amplify 5 exons with higher deletion frequencies, and the second set includes other 4 pairs of primers. Fifty-one DMD samples were screened by the first set, and then those not found to have deletions were screened by the second set. In total, 25 deletions were identified in the Fifty-one DMD samples: That is, about 49% of all cases studied were found to have deletions.
authors.affiliation: Institute of Basic Medical Sciences, Beijing.
authors.forename: S
authors.initials: S
authors.lastname: Ma
mesh_terms: D001483:Base Sequence; D015342:DNA Probes; D005091:Exons; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D015342:DNA Probes