常染色体隐性早发型帕金森病患者DJ1基因的突变分析
[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
作者信息
Guo Ji-feng, Tang Bei-sha, Zhang Yu-hu, Xia Kun, Cai Fang, Pan Qian, Shen Lu, Jiang Hong, Zhao Guo-hua, Yan Xin-xiang, Cao Li
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Dec;22(6):641-3.
OBJECTIVE
To investigate the mutation characteristics of DJ1 gene in Chinese patients with autosomal recessive early-onset Parkinsonism (AR-EP).
METHODS
Mutations of DJ1 gene were screened by polymerase chain reaction combined with DNA direct sequencing in index patients with AR-EP from 11 unrelated families.
RESULTS
No pathogenetic mutations in the DJ1 gene were detected in this group. Six intronic DJ1 polymorphisms (IVS1-15T-->C, IVS4+30T-->G, IVS4+45G-->A, IVS4+46G-->A, IVS5+31G-->A, g.168-185del) were found. Three of them (IVS1-15T-->C, IVS4+45G-->A, IVS4+46G-->A) were not reported previously.
CONCLUSION
DJ1 mutations were rare in Chinese patients with autosomal recessive early-onset Parkinsonism.
目的
研究中国常染色体隐性早发性帕金森病（AR-EP）患者中DJ1基因的突变特征。
方法
采用聚合酶链反应结合DNA直接测序法，对11个无亲缘关系家庭的AR-EP先证者进行DJ1基因突变筛查。
结果
该组未检测到DJ1基因的致病突变。发现6个DJ1基因内含子多态性（IVS1-15T→C、IVS4+30T→G、IVS4+45G→A、IVS4+46G→A、IVS5+31G→A、g.168-185del）。其中3个（IVS1-15T→C、IVS4+45G→A、IVS4+46G→A）此前未见报道。
结论
DJ1基因突变在中国常染色体隐性早发性帕金森病患者中罕见。
Zotero 插件