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.

莱伯遗传性视神经病变（LHON）可导致线粒体DNA（mtDNA）突变而导致无痛视力下降。超过95％的LHON病例是由三个mtDNA点突变之一引起的（m.3460G> A，m.11778G> A和m.14484T> C）。LHON尚无确定的治疗方法；早期准确的诊断将使患者能够得到适当的治疗，从而减少疾病的进展。为了增加对LHON进行分子遗传学测试的可及性，需要一种准确且具有成本效益的技术。这项研究的目的是评估多重连接依赖探针扩增（MLPA）检测18个LHON血液样本中三个常见突变的准确性。使用直接DNA测序技术对结果进行验证，证明MLPA技术具有100％的准确性，没有假阳性结果。这项研究表明，MLPA可以为线粒体疾病的常规分子遗传学检测提供高度准确，经济且可广泛使用的技术。