常染色体隐性遗传早发型帕金森病家系的DJ-1基因研究  

A study of DJ-1 gene in 3 pedigrees with autosomal recessive early-onset Parkinson's disease

作　　者：金淼[1] 焦劲松[1] 顾卫红[1] 王康[1] 杜皓萍[1] 王晓工[1] 王国相[1] 

机构地区：[1]中日友好医院神经内科,北京100029

出　　处：《中日友好医院学报》2006年第3期161-164,共4页Journal of China-Japan Friendship Hospital

摘　　要：目的:探讨DJ-1基因与中国人常染色体隐性遗传早发型帕金森病(AREP)家系的关系。方法:对3个AREP家系的6位患者和23位成员进行系统的临床检查并进行DJ-1基因PCR扩增,标本进行基因测序。结果:所有研究对象的DJ-1基因外显子均扩增成功。3个家系中6位患者的DJ-1基因所有外显子测序均未发现突变。结论:DJ-1基因突变在中国人AREP家系中发生率较低,不是常见致病因素。To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson＇s disease （AREP）.Methods：Clinical examination were carried out in 6 patients and their 23 family members from 3 Chinese pedigrees with AREP .PCR was performed with all exons of DJ-1 gene.The further sequencing was performed in 6 patients＇s PCR products.Results：All exons of DJ-1 gene from research objects were successfully amplified.For the 6 patients, mutation was not found in all exons of DJ-1 gene.Conclusions：In Chinese AREP pedigrees, the frequency of mutation in DJ-1 gene is low,and it isn＇t the usual reason to cause AREP.

关 键 词：早发型帕金森病 常染色体隐性遗传 DJ-1基因 

分 类 号：R742.5[医药卫生—神经病学与精神病学]