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Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성

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dc.contributor.author최영철-
dc.contributor.author홍지만-
dc.contributor.author이경아-
dc.date.accessioned2015-04-23T16:23:30Z-
dc.date.available2015-04-23T16:23:30Z-
dc.date.issued2010-
dc.identifier.issn1225-7004-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/100497-
dc.description.abstractBACKGROUND: Duchenne/Becker muscular dystrophy (DMD/BMD), which is the most common X-linked muscular dystrophy, is caused by mutations in the dystrophin gene. These mutations comprise deletions in approximately 55~65% of patients, duplications in 5~10%, and point mutations or small insertion/deletions in the remainder. Unfortunately, current diagnostic assays for dystrophin do not accurately detect duplication mutations or female carriers. In this study we employed multiplex ligation-dependent probe amplification (MLPA) analysis to detect deletions or duplications of the dystrophin gene in patients with DMD/BMD, and in potential female carriers. METHODS: A total of 41 subjects was recruited for this study, comprising 35 male DMD/BMD patients, 1 female patient with Turner syndrome, and 5 females with a family history of DMD/BMD. The MLPA method was employed to determine the copy number of each of the 79 exons of the dystrophin gene in the 41 subjects. RESULTS: MLPA analysis for dystrophin was informative in 71.4% (25/35) of patients with DMD/BMD patients, identifying deletions in 60.0% (21/35) and duplications in 11.4% (4/35). MLPA analysis showed the presence of a deletion of the DMD gene in one female patient with Turner syndrome. Of the five female patients with a family history of DMD/BMD, this assay revealed exon deletion in one and duplications in one. CONCLUSIONS: The reported findings reveal that the MLPA method is a powerful tool for detecting duplications and female carriers, as well as DMD gene deletions. MLPA should be considered the method of choice for an initial genetic analysis of DMD/BMD patients.-
dc.description.statementOfResponsibilityopen-
dc.format.extent22~26-
dc.relation.isPartOfJournal of the Korean Neurological Association-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleMultiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성-
dc.title.alternativeClinical Usefulness of Molecular Diagnosis in Dystrophin Gene Mutations Using the Multiplex Ligation-dependent Probe Amplification (MLPA) Method-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Neurology (신경과학)-
dc.contributor.googleauthorHanna Cho-
dc.contributor.googleauthorJi-Man Hong-
dc.contributor.googleauthorKyung-A Lee-
dc.contributor.googleauthorYoung-Chul Choi-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA04116-
dc.contributor.localIdA04439-
dc.contributor.localIdA02647-
dc.relation.journalcodeJ01835-
dc.subject.keywordDuchenne/Becker muscular dystrophy (DMD/BMD)-
dc.subject.keywordDystrophin gene-
dc.subject.keywordMultiplex ligation-dependent probe amplification (MLPA)-
dc.contributor.alternativeNameChoi, Young Chul-
dc.contributor.alternativeNameHong, Ji Man-
dc.contributor.alternativeNameLee, Kyung A-
dc.contributor.affiliatedAuthorChoi, Young Chul-
dc.contributor.affiliatedAuthorHong, Ji Man-
dc.contributor.affiliatedAuthorLee, Kyung A-
dc.citation.volume28-
dc.citation.number1-
dc.citation.startPage22-
dc.citation.endPage26-
dc.identifier.bibliographicCitationJournal of the Korean Neurological Association, Vol.28(1) : 22-26, 2010-
dc.identifier.rimsid36523-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers

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