Dogulu C F, Kansu T, Seyrantepe V, Ozguc M, Topaloglu H, Johns D R
Institute of Neurological Sciences and Psychiatry, Department of Neurology, Hacettepe University, Ankara, Turkey.
Eye (Lond). 2001 Apr;15(Pt 2):183-8. doi: 10.1038/eye.2001.57.
To define the prevalence of a panel of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in the Turkish LHON population. LHON-associated mtDNA mutations have been found in LHON patients from around the world, but the Turkish LHON population has not been studied.
Thirty-two Turkish patients were defined clinically as having LHON on the basis of painless, subacute, bilateral optic neuropathy and the exclusion of other causes of subacute optic neuropathy. mtDNA was extracted from blood of the 32 probands and assayed for a panel of primary and secondary LHON-associated mtDNA mutations by polymerase chain reaction (PCR)-based methods. We studied three well-known LHON-associated primary mutations (at nucleotide positions 11778, 3460 and 14484) and one common secondary mutation (at nucleotide 15257) in all 32 probands. In addition to these mutations, 18 of the 32 probands were tested for the Complex IV, COX III gene, LHON associated 9804 and 9438 mutations and secondary LHON mutations at nucleotide positions 3394, 4160, 4216, 4917, 5244, 7444, 7706, 13708, 13730 and 15812.
Among the 32 probands tested for four common LHON mutations, 3 carried the 14484 mutation, 1 carried the 11778 mutation, 1 carried the 3460 mutation and 1 carried the 15257 mutation. Among the 18 LHON patients who tested for additional mutations, 1 proband harboured the 9804 mutation and 4 carried the secondary mutations at nucleotide positions 4216, 4917 and 13708.
The results of mtDNA analysis of the Turkish LHON patients appear to be different from those of previous reports.
确定土耳其莱伯遗传性视神经病变（LHON）患者群体中一组与LHON相关的线粒体DNA（mtDNA）突变的患病率。在世界各地的LHON患者中均发现了与LHON相关的mtDNA突变，但尚未对土耳其LHON患者群体进行研究。
32例土耳其患者根据无痛性、亚急性双侧视神经病变且排除亚急性视神经病变的其他病因，临床上被诊断为LHON。从32名先证者的血液中提取mtDNA，并通过基于聚合酶链反应（PCR）的方法检测一组主要和次要的与LHON相关的mtDNA突变。我们在所有32名先证者中研究了三个著名的与LHON相关的主要突变（核苷酸位置11778、3460和14484）和一个常见的次要突变（核苷酸15257）。除这些突变外，对32名先证者中的18名进行了复合物IV、COX III基因、与LHON相关的9804和9438突变以及核苷酸位置3394、4160、4216、4917、5244、7444、7706、13708、13730和15812处的次要LHON突变检测。
在检测的32名先证者中，有4种常见的LHON突变，其中3人携带14484突变，1人携带11778突变，1人携带3460突变，1人携带15257突变。在检测了其他突变的18名LHON患者中，1名先证者携带9804突变，4人携带核苷酸位置4216、4917和13708处的次要突变。
土耳其LHON患者的mtDNA分析结果似乎与先前的报告不同。
