摘要
目的 探讨线粒体ＤＮＡ在Ｒｅｔｔ综合征发病中的作用。方法应用Ｓｏｕｔｈｅｒｎ杂交、聚合酶链反应（ＰＣＲ）－单链构象多态性（ＳＳＣＰ）分析及ＤＮＡ直接测序结合错配ＰＣＲ的方法，对１５例Ｒｅｔｔ综合征患儿及其中１４例的母亲的外周血白细胞线粒体ＤＮＡ的部分片段进行分析。结果１３例患儿及其中１１例的母亲的线粒体ＤＮＡ上，编码１６ＳｒＲＮＡ基因的２６５０－３０００区域ＤＮＡ突变，其中７例患儿及其中６例的母亲存在２８３５位点的点突变（Ｃ－Ｔ），３０例正常对照均未发现有此点突变。结论线粒体ＤＮＡ在Ｒｅｔｔ综合征的发病中起一定作用。
Objective To identify whether mitochondrial DNA (mtDNA ) mutation is involved in the patho- genesis of Rett syndrome (RS) , we undertook a mutation analysis of the mtDNA genome. Methods mtDNA from 15 children with RS and 14 their mothers were analysed by usitng Southern hybridization , polymerase chain reaction (PCR ) , single strand conformation polymorphism (SSCP ) and DNA direct sequencing. Total DNA was isolated from white blood cells. Results Southern hybridization with whole mtDNA probe revealed no large deletions in mtDNA. PCR amplification and SSCP analysis showed mutation (s) in the region 26 50-3000 encoding 1 6SrRNA of mtDNA in 1 3 RS patients and 11 their mothers. DNA sequence analysis and mismatch PCR showed a poiant mutation (C-T ) at the posi- tion 2835 in 7 RS patietnts and 6 their mothers. The same mutation was not found in 30 normal con- trols. Conclusion These data indicate that mtDNA may play a role in Rett syndrome.
出处
《中华医学杂志》
CAS
CSCD
北大核心
1996年第9期684-687,共4页
National Medical Journal of China
