摘要
探讨线粒体DNA在Rett综合征发病中的作用。方法：利用Southern杂交、聚合酶链式反应（PCR）-单链构象多态性（SSCP）分析及DNA直接测序等方法．对一例Rett综合征患儿的外周血白细胞、死后的脑、骨骼肌组织及其母亲外周血白细胞的线粒体DNA的部分片段进行分析。结果：患儿3种组织及其母亲外周血白细胞的线粒体DNA上编码16SrRNA的2650～3000区域的DNA存在突变，进一步测序证实患儿3种组织均存在2706位点A→G的点突变。结论：提示线粒体DNA在Rett综合征的发病中起一定作用。
Objective: To identify whether mitochondrial DNA(MtDNA) is invoved in the mechanism of Rett syndrome(RS), we undertook a mutation analysis of MtDNA genome. Methods: MtDNA from three kinds of tissue (white blood cells, postmortem brain and muscle) of a child with RS and that from white blood cells of her mother were analysed by using Southern blot, polymerase chan reaction (PCR), single strand conformation polymorphism(SSCP) and DNA sequencing. Results: PCR-SSCP showed mutation in MtDNA in region 2 650 ~ 3 000 encoding 16S rRNA of MtDNA in the three kinds of tissue of the patient and the white blood cells of her mother. The same mutation was not found in 30 normal controls. DNA sequence analysis was done in the patient and showed the same point mutation(A→G) at the position 2 706 in the three kinds of tissue. Conlusion: These data indicate that MtDNA may play a role in Rett syndrome and further studies are needed.
出处
《北京医科大学学报》
CSCD
1997年第6期535-538,共4页
Journal of Peking University(Health Sciences)
