title: Detection of dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients utilizing multiplex polymerase chain reaction.
abstract: Multiplex PCR was utilized to detect deletions at the hot spot regions of dystrophin gene. Thirty-four cases of DMD and 7 cases of BMD, based on their clinical manifestations, were examined. Eight normal male adults were included as control. Eleven DNA fragments coding the exons 1, 3, 6, 8, 13, 17, 43, 47, 50, 52 and 60 were chosen and primers were prepared with oligonucleotide synthesizer. Multiplex PCR was performed under the condition of 94 degrees C 1 minute for denaturation, 65 degrees C 3 minutes for annealing, 72 degrees C 3 minutes for extension. Thirty cycles were followed by a last cycle with 7 minutes extension. Clinically, there were no significant differences between Chinese patients and those reported in other areas except the low rate of positive family history (32%). The results from multiplex PCR showed that 15 cases (37%), 11 DMD and 4 BMD, proved to have deletions in the exons studied; 1 located at exons 6 and 8, 1 at exon 8, 1 at exons 8, 13 and 17, 1 at exons 13 and 17, 1 at exon 17, 3 at exon 43, 1 at exon 50, and 3 at exons 50 and 52, after false negatives were excluded. No difference in size or location was noticed between DMD and BMD in the sample-limited result.
authors.affiliation: Department of Physiology, Kaohsiung Medical College, Taiwan, Republic of China.
authors.forename: R C
authors.initials: RC
authors.lastname: Yang
authors.forename: S L
authors.initials: SL
authors.lastname: Yang
authors.forename: S H
authors.initials: SH
authors.lastname: Jin
authors.forename: H W
authors.initials: HW
authors.lastname: Chen
authors.forename: Y J
authors.initials: YJ
authors.lastname: Jong
authors.forename: S S
authors.initials: SS
authors.lastname: Chen
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
mesh_terms: D000328:Adult; D001483:Base Sequence; D016189:Dystrophin / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D016189:Dystrophin