三峡库区遗传性脊髓小脑型共济失调家系基因突变的研究  

Mutation analysis of hereditary spinocerebellar ataxia type 3 from a Chinese predigree in Three Gorge Area

作　　者：黄丽华[1] 干亚岚[1] 张猛[1] 许志强[1] 周华东[1] 

机构地区：[1]第三军医大学大坪医院野战外科研究所神经内科,重庆400042

出　　处：《重庆医学》2008年第7期691-692,696,共3页Chongqing medicine

基　　金：重庆市自然科学基金计划项目(2006BB5082)

摘　　要：目的研究三峡库区重庆市首例诊断遗传性脊髓小脑型共济失调3型(SCA3)的基因突变和临床特征。方法运用聚合酶链反应、琼脂糖凝胶电泳等技术对一个表现为共济失调的家系(14名成员,包括6名患者)的Atxn3基因进行检测。结果检测出该家系内6名患者和3名症状前患者为SCA3型基因突变。结论三峡库区该例SCA3型家系患者存在SCA3型基因突变,与临床诊断结果一致。Objective To study the gene mutation and clinical characteristics of hereditary spinocerebellar ataxia type 3 from the first diagnostic chinese SCA3 predigree in Chongqing over Three Gorge Area. Methods Atxn3 gene was amplified by means of polymerase chain reaction （PCR） and agarose gel electrophoresis （AGE） technique in a predigree（14 members including 6 patients） characterized by cerebellum ataxia. Results Gene mutation was examinated in 6 patients and 3 presymptomatic patients in this predigree. Conclusion In the case of SCA3 predigree in Chongqing over Three Gorge Area, the genetic examination is consistant with clinical diagnosis.

关 键 词：遗传性脊髓小脑型共济失调3型 Atxn3基因 基因突变 重庆 

分 类 号：R744[医药卫生—神经病学与精神病学]