Tang J, Qi Y, Bao X H, Wu X R
Department of Pediatrics, The First Teaching Hospital, Beijing Medical University, P.R. China.
Pediatr Neurol. 1997 Nov;17(4):327-30. doi: 10.1016/s0887-8994(97)00151-3.
The present study was undertaken to identify whether mitochondrial DNA (mtDNA) mutations were involved in the pathogenesis of Rett syndrome (RS). Mitochondrial DNA from 15 children with RS and 14 of their mothers was analyzed. No large deletions in mtDNA were found using Southern blot with a full-length mtDNA as a probe. Polymerase chain reaction amplification and single strand conformation polymorphism analysis showed mutations in region 2650-3000 encoding 16S rRNA of mtDNA in 13 cases of RS and 11 of their mothers. DNA sequence analysis and mismatch polymerase chain reaction results revealed a point mutation (C --> T) at position 2835 in 7 cases of RS and 6 of their mothers. The same mutation was not found in a total of 30 normal controls. These data indicate that mtDNA may play an important role in the pathogenesis of RS.
本研究旨在确定线粒体DNA（mtDNA）突变是否参与雷特综合征（RS）的发病机制。分析了15例RS患儿及其14位母亲的线粒体DNA。以全长mtDNA为探针，用Southern印迹法未发现mtDNA的大片段缺失。聚合酶链反应扩增和单链构象多态性分析显示，13例RS患儿及其11位母亲的mtDNA编码16S rRNA的2650 - 3000区域存在突变。DNA序列分析和错配聚合酶链反应结果显示，7例RS患儿及其6位母亲在2835位存在点突变（C→T）。30例正常对照中未发现相同突变。这些数据表明，mtDNA可能在RS的发病机制中起重要作用。
