一种与线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）相关的新的线粒体DNA突变。
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
作者信息
Goto Y, Nonaka I, Horai S
机构信息
Division of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.
出版信息
Biochim Biophys Acta. 1991 Oct 21;1097(3):238-40. doi: 10.1016/0925-4439(91)90042-8.
In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide position 3271 in the mitochondrial tRNA(Leu(UUR] gene was recognized and was very near to the most common mutation site at 3243. With a simple detection method using polymerase chain reaction with a mismatch primer, none of 46 patients with other mitochondrial diseases and 50 controls had this mutation.
在40例线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患者中，有3例发现了一种新的常见突变，即线粒体tRNA（Leu（UUR））基因第3271位核苷酸由T到C的转变，该突变位点非常靠近最常见的3243位突变位点。采用错配引物聚合酶链反应的简单检测方法，46例其他线粒体疾病患者和50例对照均未发现该突变。
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