Publication: Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy
Issued Date
2019-11-17
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24701408
24701394
24701394
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2-s2.0-85073992869
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Mahidol University
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SCOPUS
Bibliographic Citation
Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis. Vol.30, No.8 (2019), 819-824
Suggested Citation
Thanadon Dokrungkoon, Preyaporn Onsod, Prapatsorn Areesirisuk, Budsaba Rerkamnuaychoke, Kavin Vanikieti, Takol Chareonsirisuthigul Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy. Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis. Vol.30, No.8 (2019), 819-824. doi:10.1080/24701394.2019.1670819 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/50032
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Title
Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy
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Abstract
© 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group. Leber hereditary optic neuropathy (LHON) causes painless vision loss resulting from mitochondrial DNA (mtDNA) mutation. Over 95% of LHON cases result from one of three mtDNA point mutations (m.3460G>A, m.11778G>A, and m.14484T>C). There is no established cure for LHON; early and accurate diagnosis would enable patients to be given appropriate treatments leading to a reduction of the disease progression. To increase the accessibility to molecular genetic testing for LHON, an accurate and cost-effective technique is required. The purpose of this study was to evaluate the accuracy of multiplex ligation-dependent probe amplification (MLPA) for detecting the three common mutations in 18 LHON blood specimens. Validation of the results using direct DNA sequencing technology proved that the MLPA technique had 100% accuracy, with no false-positive results. This study demonstrates that MLPA could provide a highly accurate, economical, and widely accessible technique for routine molecular genetic testing for mitochondrial disorders.