肌阵挛性癫痫伴破碎红纤维病中携带tRNA(8344Lys)点突变的线粒体DNA定量分析。
Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease.
作者信息
Suomalainen A, Kollmann P, Octave J N, Söderlund H, Syvänen A C
机构信息
Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland.
出版信息
Eur J Hum Genet. 1993;1(1):88-95. doi: 10.1159/000472391.
Myoclonus epilepsy and ragged-red-fiber syndrome (MERRF) is caused by a point mutation at nucleotide 8344 in the tRNA(Lys) gene of mitochondrial DNA. We analyzed leukocyte DNA from nine members of a large MERRF family using a new technique, solid-phase minisequencing. Quantitative analysis of the tRNA(8344Lys) mutation showed that the mutated mtDNA comprised from 9 to 72% of the total mtDNA in the leukocytes of these individuals. The minisequencing method is a promising tool for the diagnosis of MERRF. In addition to the identification of the tRNA(8344Lys) mutation, the relative amount of mutated mtDNA can be simultaneously determined in the same assay from one blood sample.
肌阵挛性癫痫伴破碎红纤维综合征（MERRF）由线粒体DNA的tRNA（Lys）基因中第8344位核苷酸的点突变引起。我们使用一种新技术——固相微测序，分析了一个大型MERRF家族中9名成员的白细胞DNA。对tRNA（8344Lys）突变的定量分析表明，这些个体白细胞中突变的线粒体DNA占总线粒体DNA的9%至72%。微测序方法是诊断MERRF的一种有前景的工具。除了鉴定tRNA（8344Lys）突变外，在同一次检测中，从一份血液样本中还可同时测定突变线粒体DNA的相对含量。
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