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Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy

التفاصيل البيبلوغرافية
العنوان: Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy
المؤلفون: Kavin Vanikieti, Budsaba Rerkamnuaychoke, Takol Chareonsirisuthigul, Thanadon Dokrungkoon, Preyaporn Onsod, Prapatsorn Areesirisuk
المصدر: Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis. 30(8)
سنة النشر: 2019
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, LEBER HEREDITARY OPTIC NEUROPATHY, Mitochondrial DNA, genetic structures, Adolescent, Mitochondrial disease, Optic Atrophy, Hereditary, Leber, Biology, medicine.disease_cause, DNA, Mitochondrial, DNA sequencing, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Species Specificity, Genetics, medicine, Humans, Multiplex, 030212 general & internal medicine, Multiplex ligation-dependent probe amplification, Child, Molecular Biology, Mutation, Point mutation, Sequence Analysis, DNA, medicine.disease, eye diseases, Genome, Mitochondrial, 030221 ophthalmology & optometry, Female, Multiplex Polymerase Chain Reaction
الوصف: 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.
تدمد: 2470-1408
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f785d37cf6fd6cbb8efa7525860c393d
https://pubmed.ncbi.nlm.nih.gov/31566038
رقم الأكسشن: edsair.doi.dedup.....f785d37cf6fd6cbb8efa7525860c393d
قاعدة البيانات: OpenAIRE
الوصف
تدمد:24701408