Huoponen K, Vilkki J, Savontaus M L, Aula P, Nikoskelainen E K
Department of Medical Genetics, University of Turku, Finland.
Genomics. 1990 Nov;8(3):583-5. doi: 10.1016/0888-7543(90)90049-z.
A mutation in the mitochondrial DNA at nt 11,778 has recently been found in Leber hereditary optic neuroretinopathy (LHON), a maternally inherited ocular disease. The mutation is located in the ND4 gene encoding subunit 4 of the respiratory chain enzyme NADH dehydrogenase. The mutation was subsequently not found in 9 of the 20 known Finnish families with LHON, implying that there are at least two different mutations associated with the disease. Using direct sequencing of PCR-amplified mtDNA, we have now sequenced the entire ND4 region in the families without the nt 11,778 mutation to find the other mutations. No new mutations in the ND4 region were found, suggesting that the putative mtDNA mutation in these families may be in the coding regions for other subunits of NADH dehydrogenase enzyme. The sequence of ND4 gene as found to be highly homogeneous.
最近在Leber遗传性视神经视网膜病（LHON）中发现了线粒体DNA第11778位核苷酸处的突变，这是一种母系遗传的眼部疾病。该突变位于编码呼吸链酶NADH脱氢酶亚基4的ND4基因中。随后在20个已知的芬兰LHON家族中的9个家族中未发现该突变，这意味着该疾病至少与两种不同的突变相关。通过对PCR扩增的线粒体DNA进行直接测序，我们现在对没有第11778位核苷酸突变的家族中的整个ND4区域进行了测序，以寻找其他突变。在ND4区域未发现新的突变，这表明这些家族中假定的线粒体DNA突变可能存在于NADH脱氢酶其他亚基的编码区域中。发现ND4基因的序列高度一致。
