Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease
Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease
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中国人家族性帕金森病CHCHD2基因突变分析
DOI：
10.1016/j.neurobiolaging.2015.08.010
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发表时间：
2015
影响因子：
4.2
通讯作者：
Tang Beisha
中科院分区：
文献类型：
--
作者：
Liu Zhenhua;Guo Jifeng;Li Kai;Qin Lixia;Kang Jifeng;Shu Li;Zhang Yuan;Wei Yang;Yang Nannan;Luo Yang;Sun Qiying;Xu Qian;Yan Xinxiang;Tang Beisha
Funayama等人最近在日本常染色体显性帕金森病家族中发现了CHCHD2基因突变，增加了我们对这种疾病单基因病因的认识。然而，在中国汉族人群中，CHCHD2与帕金森病（PD）之间的相关性尚未见报道。本研究的目的是了解中国家族性PD中CHCHD 2突变的患病率。对中国大陆92个常染色体显性遗传帕金森病家系进行CHCHD2基因突变的遗传学分析。未发现CHCHD2基因突变，提示CHCHD2基因突变可能不是中国家族性PD的常见病因。
Funayama et al. recently identified mutations in theCHCHD2gene in Japanese families with autosomal dominant Parkinson's disease, increasing our knowledge about the monogenic cause of this disorder. However, there is no report regarding the association betweenCHCHD2and Parkinson's disease (PD) in the Chinese Han population. The aim of this study was to obtain the prevalence ofCHCHD2mutations in Chinese familial PD. Genetic analysis of mutations inCHCHD2gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China. No mutations inCHCHD2gene were identified, suggesting thatCHCHD2mutations might not be a common cause of PD in Chinese familial cases.