线粒体脑肌病的线粒体3271T＞C、8356T＞C、9176T＞C/G和13513G＞A位点突变筛查  

Screening of mitochondrial deoxyribonucleic acid 3271T＞C,8356T＞C, 9176T ＞ C/G and 13513G＞A mutations in mitochondrial encephalomyopathies

作　　者：徐建彪[1] 马祎楠[2] 潘虹[1] 郑雪飞[2] 张英[2] 王松涛[2] 卜定方[2] 戚豫[2] 

机构地区：[1]北京大学第一医院儿科,100034 [2]北京大学第一医院儿科中心实验室,100034

出　　处：《中华医学杂志》2011年第14期969-972,共4页National Medical Journal of China

基　　金：国家自然科学基金资助项目（30700912）;首都医学发展科研基金（2009-2022）

摘　　要：目的 了解中国线粒体脑肌病患儿的线粒体DNA（mtDNA）3271T＞C、8356T＞C、9176T＞C/G和13513G＞A位点的突变情况.方法 选择2005年10月至2009年10月500例线粒体脑肌病患儿,提取外周血DNA,用PCR-限制性片段长度多态性（RFLP）方法进行mtDNA 3271T＞C、8356T＞C、9176T＞C/G和13513G＞A位点的突变筛查分析;用DNA直接测序方法验证PCR-RFLP的结果.结果 在500例线粒体脑肌病患儿中未发现3271T＞C、8356T＞C、9176T＞C/G和13513G＞A位点的突变.结论 在中国线粒体脑肌病患儿中线粒体3271T＞C、8356T＞C、9176T＞C/G和13513G＞A位点不是常见突变.Objective To investigate the spectrum of mitochondrial DNA （deoxyribonucleic acid）3271T＞C, 8356T ＞ C, 9176T ＞ C/G and 13513G ＞ A mutations in Chinese patients with mitochondrial encephalomyopathies. Methods Peripheral blood samples were collected from 500 mitochondrial encephalomyopathic patients clinically diagnosed as mitochondrial encephalomyopathy lactic acidosis ＆ stroke-like episodes （MELAS）, myoclonus epilepsy ＆ ragged-red fibers （MERRF） or Leigh＇s syndrome from October 2005 to October 2009. The methods of PCR- polymerase chain reaction-restriction fragment length polymorphism （ RFLP ） and PCR-sequencing were performed to identify the mutations. Results No patients with the 3271T ＞ C, 8356T ＞ C, 9176T ＞ C/G or 13513G ＞ A mutations were identified.Conclusion The mutations of 3271T ＞ C, 8356T ＞ C, 9176T ＞ C/G and 13513G ＞ A are rare causes of mitochondrial encephalomyopathies in Chinese patients.

关 键 词：线粒体脑肌病 DNA 线粒体 突变 

分 类 号：R746[医药卫生—神经病学与精神病学]