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目的探索线粒体DNA部分点突变与遗传性共济失调(hereditary ataxia,HA)的关系。方法对广西壮族自治区第二人民医院神经内科和广西医科大学附属第一医院神经内科1985—2004年收治的临床确诊为HA的30例患者及其部分亲属与2003年7月至12月35名健康体检者外周血白细胞的4个mtDNA片断,即点3243、8993、8344和点11778所在片断采用聚合酶链反应(PCR)扩增。对点3243、8993的PCR产物采用限制性片断长度多态性(RFLP)分析法检测该片断中有无A3243G、T8993G或T8993C点突变;对点8344、11778的PCR产物进行单链构象多态性分析(SSCP),并与患者亲属及健康人进行比较。对SSCP出现异常条带的研究对象进行相应mtDNA片断测序。结果所有研究对象均未检测到A3243G、T8993G或T8993C点突变;点8344所在mtD-NA片断中均未检测到突变。但在家系1中的2例患者及1名无临床症状亲属检测到mtDNAA11893G点突变。结论HA的发生、发展可能与该区域点突变有关。
Objective To explore the relationship between mitochondrial DNA partial point mutation and hereditary ataxia (HA). Methods Thirty patients with clinically diagnosed HA and some of their relatives who were admitted to Department of Neurology, Second People’s Hospital of Guangxi Zhuang Autonomous Region and the First Affiliated Hospital of Guangxi Medical University from 1985 to 2004 were compared with 35 healthy people from July 2003 to December 2003 Four mtDNA fragments of the peripheral blood leukocytes of the test subjects, ie, the spots at points 3243, 8993, 8344 and 11778, were amplified by polymerase chain reaction (PCR). The PCR products of point 3243 and 8993 were analyzed by restriction fragment length polymorphism (RFLP) to detect the presence or absence of A3243G, T8993G or T8993C point mutations. The PCR products of point 8344 and 11778 were analyzed by single strand conformation polymorphism Analysis (SSCP), and compared with relatives and healthy people. The subjects with abnormal bands in SSCP were sequenced with corresponding mtDNA fragments. Results No A3243G, T8993G or T8993C point mutation was detected in all the subjects. No mutation was detected in the mtD-NA fragment of point 8344. But mtDNAA11893G point mutation was detected in 2 patients in family 1 and 1 relatives without clinical symptoms. Conclusion The occurrence and development of HA may be related to the point mutation in this area.