A NEW MTDNA MUTATION ASSOCIATED WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)

被引：315

作者：

GOTO, Y ^{[1
]}

NONAKA, I ^{[1
]}

HORAI, S ^{[1
]}

机构：

[1] NATL INST GENET,DEPT HUMAN GENET,MISHIMA,SHIZUOKA 411,JAPAN

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1991年 / 1097卷 / 03期

关键词：

D O I：

10.1016/0925-4439(91)90042-8

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：238 / 240

页数：3

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