【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。更多还原

【Abstract】 Objective: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.更多还原