mjd

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

Methods : Fragment analysis with capillary electrophoresis was applied to count the CAG repeat of MJD gene and was proved with sequencing .

方法：应用毛细管电泳片段分析（STR分析）对MJD/SCA3基因内CAG重复次数进行精确分析，并采用测序予以验证。

Objective To study the clinic , neuro electrophysiology and molecular biology of Machado Joseph disease ( MJD ) .

目的对Machado-Joseph病（MJD）的临床、神经电生理和分子生物学等方面进行研究。

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。

Results The gene mutations of 9 SCA families were MJD among which 6 asymptomatic MJD had been detected in 2 SCA families .

结果检出9个家系为MJD，其中2个MJD家系检测到6例症状前MJD。

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。

Methods Family visiting , physical examination and the blood samples were analysed on molecular biology in 44 members of a family with MJD . The cases of inpatients were examined on cerebrospinal fluid and neuro electrophysiology .

方法对一MJD家系44名成员家访、体检、采静脉血作分子生物学分析，住院病例进行脑脊液及神经电生理检查。

Conclusion CAG expansions were related to MJD . The technique of gene mutation detection can provide an effective way for the prediction of asymptomatic and genetic counseling , diagnosis and different diagnosis , which was fundamental for gene typing .

结论CAG过度扩增为MJD的致病原因，利用基因突变分析可提供症状前预报及遗传咨询，并提供诊断及鉴别诊断，为基因分型提供科学依据。

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。