摘要
目的探讨马查多约瑟夫病基因1(MJD1)CAG三核苷酸动态突变及其拷贝数与MJD/脊髓小脑型共济失调Ⅲ型(SCA3)患者临床特征的相关关系。方法应用聚合酶链式反应、变性聚丙烯酰胺凝胶电泳和银染技术,对9个MJD/SCA3家系109名成员进行MJD1基因(CAG)n拷贝数分析。结果发现异常扩增的(CAG)n拷贝数与发病年龄呈负相关,并在一定程度上影响病情严重程度;主要临床症状、体征与异常扩增的(CAG)n拷贝数无关,而是受病程影响。同时发现17例症状前患者。结论异常扩增的(CAG)n拷贝数对疾病表型有影响。
s Objective To assess MJD1 gene (CAG)n dynamic mutation and the correlation between MJD1 gene (CAG)n copies and clinical features of MJD/SCA3 patients.Methods The polymorphic CAG repeat in the MJD1 gene was determined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis analysis in 109 members of 9 unrelated MJD/SCA3 families.Results The size of expanded CAG repeat was inversely correlated with the age of onset of MJD/SCA3, which also affected the severity of disease to a certain extent. It displayed inter generational instability. But instability of the expanded triplet repeat was not found to be affected by sex of the parent transmitting the mutaion. In addition, major clinical symptoms and signs were not correlated with CAG repeat lengths. Seventeen asymptomatic carriers were founol in the study.Conclusions Although (CAG)n copies influence on disease phenotype, it couldnt be made as the only predictable index of clincal features were found in the study.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
1999年第3期138-141,共4页
Chinese Journal of Nervous and Mental Diseases
基金
湖南省科委课题
湖南省卫生厅课题资助
关键词
M-3病
遗传病
脊髓小脑型
共济失调
CAG重复序列
Spinocerebellar ataxia Machado Joseph disease(MJD) Gene CAG repeat expansion Clinical features