title: Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.
abstract: Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We analyzed the results of a genetic test in 29 DMD/BMD patients, their six female relatives, and two myopathic female patients in Korea. As the methods developed, we applied different procedures for dystrophin gene analysis; initially, multiplex polymerase chain reaction was used, followed by multiplex ligation-dependent probe amplification (MLPA). Additionally, we used direct DNA sequencing for some patients who had negative results using the above methods. The overall mutation detection rate was 72.4% (21/29) in DMD/BMD patients, identifying deletions in 58.6% (17/29). Most of the deletions were confined to the central hot spot region between exons 44 and 55 (52.9%, 7/19). The percentage of deletions and duplications revealed by MLPA was 45.5% (5/11) and 27.2% (3/11), respectively. Using the MLPA method, we detected mutations confirming their carrier status in all female relatives and symptomatic female patients. In one patient in whom MLPA revealed a single exon deletion of the dystrophin gene, subsequent DNA sequencing analysis identified a novel nonsense mutation (c.4558G > T; Gln1520X). The MLPA assay is a useful quantitative method for detecting mutation in asymptomatic or symptomatic carriers as well as DMD/BMD patients.
authors.affiliation: Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine, Busan, Korea.
authors.forename: Bo Lyun
authors.initials: BL
authors.lastname: Lee
authors.forename: Sook Hyun
authors.initials: SH
authors.lastname: Nam
authors.forename: Jun Hwa
authors.initials: JH
authors.lastname: Lee
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Munhyang
authors.initials: M
authors.lastname: Lee
authors.forename: Jeehun
authors.initials: J
authors.lastname: Lee
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D022521:Ligase Chain Reaction; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D016254:Mutagenesis, Insertional; D056910:Republic of Korea; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D016189:Dystrophin