中国家族性帕金森病中CHCHD2基因的突变分析
Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.
作者信息
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
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan, People's Republic of China.
出版信息
Neurobiol Aging. 2015 Nov;36(11):3117.e7-3117.e8. doi: 10.1016/j.neurobiolaging.2015.08.010. Epub 2015 Aug 15.
Funayama et al. recently identified mutations in the CHCHD2 gene 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 between CHCHD2 and Parkinson's disease (PD) in the Chinese Han population. The aim of this study was to obtain the prevalence of CHCHD2 mutations in Chinese familial PD. Genetic analysis of mutations in CHCHD2 gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China. No mutations in CHCHD2 gene were identified, suggesting that CHCHD2 mutations might not be a common cause of PD in Chinese familial cases.
船山等人最近在患有常染色体显性帕金森病的日本家族中发现了CHCHD2基因的突变，这增加了我们对这种疾病单基因病因的了解。然而，在中国汉族人群中，尚无关于CHCHD2与帕金森病（PD）之间关联的报道。本研究的目的是了解中国家族性帕金森病中CHCHD2突变的发生率。对来自中国大陆的92个常染色体显性帕金森病家族队列进行了CHCHD2基因突变的遗传分析。未发现CHCHD2基因突变，这表明CHCHD2突变可能不是中国家族性帕金森病病例的常见病因。
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