sca3

Gene diagnosis of MJD / SCA3 based on fragment analysis with capillary electrophoresis

基于毛细管电泳片段分析的MJD/SCA3基因诊断

Objective To study the role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3 ( SCA3 ) .

目的研究细胞凋亡在脊髓小脑性共济失调3型（SCA3）分子发病机制中的作用。

Objective : To set up and optimize the method of gene diagnosis for MJD / SCA3 and study the relationship between phenotype and CAG repeat number .

目的：建立并完善MJD/SCA3的基因诊断方法，研究临床表型和CAG重复次数的相关性。

The shortest repeats of ( CAG ) 8 in alleles of SCA3 / MJD genes may be special genotype in northeastern of china .

我们首次发现大量的8个CAG三核昔酸重复拷贝，是目前所发现的在scA3/MJD基因中最短的重复拷贝数，它很可能是我国东北地区特有的等位基因型。

Spinocerebellar ataxia type 3 / Machado-Joseph disease ( SCA3 / MJD ) is a kind of autosomal dominant disease , which is characterized by degeneration of neurons and accumulation of aberrant protein aggregates in affected neurons .

脊髓小脑型共济失调Ⅲ型/马查多-约瑟夫病（SCA3/MJD），是一种以神经细胞变性、细胞核内蛋白聚集体形成为病理特征的常染色体显性遗传病。