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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。
To investigate the role of mitochondrial DNA in the pathogenesis of Rett syndrome. Methods: Southern hybridization, polymerase chain reaction (PCR) - single strand conformation polymorphism (SSCP) analysis and direct DNA sequencing were used. The peripheral blood leucocytes, the brain, skeletal muscle tissue and the peripheral blood leucocytes of their mothers in a Rett syndrome were analyzed for mitochondrial DNA. Results: There was a mutation in DNA of 2650 ~ 3000 in the mitochondrial DNA of 16 peripheral blood leukocytes in 3 children and their mothers. Further sequencing confirmed that there were point A → G mutations at 2706 sites in all three tissues. Conclusion: It suggests that mitochondrial DNA play a role in the pathogenesis of Rett syndrome.