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Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성
DC Field | Value | Language |
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dc.contributor.author | 최영철 | - |
dc.contributor.author | 홍지만 | - |
dc.contributor.author | 이경아 | - |
dc.date.accessioned | 2015-04-23T16:23:30Z | - |
dc.date.available | 2015-04-23T16:23:30Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 1225-7004 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/100497 | - |
dc.description.abstract | BACKGROUND: 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.statementOfResponsibility | open | - |
dc.format.extent | 22~26 | - |
dc.relation.isPartOf | Journal of the Korean Neurological Association | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Multiplex Ligation-dependent Probe Amplification (MLPA) 방법에 의한 디스트로핀 유전자 돌연변이 분자학적 진단의 유용성 | - |
dc.title.alternative | Clinical Usefulness of Molecular Diagnosis in Dystrophin Gene Mutations Using the Multiplex Ligation-dependent Probe Amplification (MLPA) Method | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurology (신경과학) | - |
dc.contributor.googleauthor | Hanna Cho | - |
dc.contributor.googleauthor | Ji-Man Hong | - |
dc.contributor.googleauthor | Kyung-A Lee | - |
dc.contributor.googleauthor | Young-Chul Choi | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A04116 | - |
dc.contributor.localId | A04439 | - |
dc.contributor.localId | A02647 | - |
dc.relation.journalcode | J01835 | - |
dc.subject.keyword | Duchenne/Becker muscular dystrophy (DMD/BMD) | - |
dc.subject.keyword | Dystrophin gene | - |
dc.subject.keyword | Multiplex ligation-dependent probe amplification (MLPA) | - |
dc.contributor.alternativeName | Choi, Young Chul | - |
dc.contributor.alternativeName | Hong, Ji Man | - |
dc.contributor.alternativeName | Lee, Kyung A | - |
dc.contributor.affiliatedAuthor | Choi, Young Chul | - |
dc.contributor.affiliatedAuthor | Hong, Ji Man | - |
dc.contributor.affiliatedAuthor | Lee, Kyung A | - |
dc.citation.volume | 28 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 22 | - |
dc.citation.endPage | 26 | - |
dc.identifier.bibliographicCitation | Journal of the Korean Neurological Association, Vol.28(1) : 22-26, 2010 | - |
dc.identifier.rimsid | 36523 | - |
dc.type.rims | ART | - |
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