Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea.
10.3346/jkms.2012.27.3.274
- Author:
Bo Lyun LEE
1
;
Sook Hyun NAM
;
Jun Hwa LEE
;
Chang Seok KI
;
Munhyang LEE
;
Jeehun LEE
Author Information
1. Department of Pediatrics, Pusan Paik Hospital, Inje University College of Medicine, Busan, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Gene Amplification;
Duchenne/Becker Muscular Dystrophy;
Deletion;
Duplication
- MeSH:
Adolescent;
Adult;
Child;
Child, Preschool;
DNA Mutational Analysis;
Dystrophin/*genetics;
Exons;
Female;
Heterozygote;
Humans;
Infant;
Ligase Chain Reaction;
Male;
Multiplex Polymerase Chain Reaction;
Muscular Dystrophy, Duchenne/*genetics;
Mutagenesis, Insertional;
Republic of Korea;
Sequence Analysis, DNA;
Sequence Deletion
- From:Journal of Korean Medical Science
2012;27(3):274-280
- CountryRepublic of Korea
- Language:English
-
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.
