Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

作     者：Xiao-Chen Chen Hao Sun Chang-Jun Zhang Ying Zhang Ke-Qin Lin Liang Yu Lei Shi Yu-Fen Tao Xiao-Qin Huang Jia-You Chu Zhao-Qing Yang 

作者机构：Department of Medical GeneticsInstitute of Medical BiologyChinese Academy of Medical Sciences and Peking Union Medical College935 Jiaoling RoadKunming 650118YunnanChina Reproductive Medicine CenterHubei University of MedicineShiyan 442000China 

出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)

年 卷 期：2013年第40卷第10期

页      面：543-548页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

基　　金：supported by the National Natural Science Foundation of China(No.30400264) the Natural Science Foundation of Yunnan Province,China(No.2008ZC068M) the Chinese National High Technology Research and Development Program(No.2012AA021802) 

主　　题：CAG Gene Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups 

摘      要：The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2） （Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI） （Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.