Multiplex Ligation-Dependent Probe Amplification (MLPA) Assay for the Detection of Mitochondrial DNA Deletion in Chronic Progressive External Ophthalmoplegia (CPEO)
- Authors
- Kwon, MJ[Kwon, Min-Jung]; Ki, CS[Ki, Chang-Seok]; Kim, JY[Kim, Ji-Youn]; Lee, ST[Lee, Seung-Tae]; Kim, JW[Kim, Jong-Won]; Kang, SY[Kang, Sa-Yoon]
- Issue Date
- 2011
- Citation
- ANNALS OF CLINICAL AND LABORATORY SCIENCE, v.41, no.4, pp.385 - 389
- Indexed
- SCIE
SCOPUS
- Journal Title
- ANNALS OF CLINICAL AND LABORATORY SCIENCE
- Volume
- 41
- Number
- 4
- Start Page
- 385
- End Page
- 389
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/71641
- ISSN
- 0091-7370
- Abstract
- Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy commonly caused by deleterious changes in the mitochondrial DNA (mtDNA). We describe a 45-year-old man who was referred to us for investigation of progressive ptosis. We performed a multiplex ligation-dependent probe amplification (MLPA) assay of mtDNA from muscle tissue and peripheral blood leukocytes, and followed up with gap-polymerase chain reaction (PCR) and direct sequence analysis. Results showed a deletion of a 4,407 bp segment in the mtDNA region, ranging from nucleotide position 8,577 in the MT-ATP6 gene to nucleotide position 12,983 in the MT-ND5 gene. To the best of our knowledge, this is the first report of a CPEO patient with a large novel deletion of mtDNA genetically confirmed by MLPA assay. MLPA can be a feasible platform for clinical laboratories to detect large deletion mutations in the mtDNA for suspected cases.
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- Appears in
Collections - Medicine > Department of Medicine > 1. Journal Articles
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