%0 Journal Article
%T Development of a DNA biochip for detection of known mtDNA mutations associated with MELAS and MERRF syndromes<br>MELAS和MERRF综合征相关mtDNA突变位点检测集成芯片的建立
%A CHEN Gang
%A LI wei
%A Du wei-Dong
%A CAO Hui-Min
%A TANG Hua-Yang
%A TANG Xian-Fa
%A SUN Zhong-Wu
%A ZHAO Hui
%A JIN Qing-Hui
%A ZHAO Jian-Long
%A ZHANG Xue-Jun
%A <br>陈刚
%A 李伟
%A 杜卫东
%A 曹慧敏
%A 汤华阳
%A 唐先发
%A 孙中武
%A 赵辉
%A 金庆辉
%A 赵建龙
%A 张学军
%J 遗传
%D 2008
%I 
%X Abstract: We developed an oligonucleotide biochip for synchronous multiplex detection of 31 known mitochondrial DNA mutations associated with MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MERRF (Myoclonic epilepsy with ragged red fibers). Allele-specific oligonucleotide probes were covalently immobilized on aldehyde modified glass slides, and then hybridized with Cy5-labled DNA fragments amplified from sample DNAs by a multiplex asymmetric PCR (MAP) method. Five patients with MELAS, 5 patients with MERRF and 20 healthy controls were investigated using the oligonucleotide biochip. The results showed that all the cases with MELAS had an A3243G mutation in the MT-TL1 gene. In the MERRF group, 4 cases were found to be an A8344G mutation and 1 case was a T8356C mutation, and both mutations were in the MT-TK gene. In the healthy controls, none of the 31 related mutations was found. The results of the DNA biochip were consistent with those by DNA sequencing. Clearly, the DNA biochip com-bined with MAP method would become a valuable tool in multiplex detecting of the point mutations in mtDNA leading to MELAS and/or MERRF syndrome. Moreover, this biochip format could be modified to extend to the screening scope of SNPs for any other human mitochondrial diseases.
%K 寡核苷酸芯片
%K 线粒体DNA
%K 突变
%K MELAS综合征
%K MERRF综合征
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=62050715AD4B1715A13C14D5277E1446&yid=67289AFF6305E306&vid=340AC2BF8E7AB4FD&iid=F3090AE9B60B7ED1&sid=0B2455B0C3E7C267&eid=F7C51083F4D893E5&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=19