Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease

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• 作者：Jin-yong Tian^a ; ¹ ; Ji-feng Guo^a ; ^c ; ¹ ; Lei Wang^a ; Qi-ying Sun^a ; Ling-yan Yao^a ; Lin-zi Luo^a ; Chang-he Shi^a ; Ya-cen Hu^a ; Xin-xiang Yan^a ; ^c ; Bei-sha Tang^a ; ^b ; ^c ; ^{bstang7398@yahoo.com.cn}
• 关键词：LRRK2 ; SCNA ; UCHL1 ; HtrA2 ; GIGYF2 ; Autosomal dorminant Parkinson's disease
• 刊名：Neuroscience Letters
• 出版年：2012
• 期刊代码：52_03043940
• 类别：neu
• 出版时间：16 May, 2012
• 卷：516
• 期：2
• 页码：207-211
• 文件大小：537 K

摘要

Autosomal dorminant Parkinson's disease (ADPD) has been associated with mutations in the SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes. We studied the prevalence of variants in all five genes in 12 Chinese unrelated families with ADPD and 4 families with both essential tremor (ET) and Parkinson's disease (PD) phenotypes using direct sequencing analysis. We found 27 variants in the LRRK2 gene, eight in GIGYF2 gene, three in the SCNA and UCHL1 gene respectively, in which five variants were novel. However, no pathogenic mutations in the five genes were found in these families. Our result indicated that SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes鈥?mutations might not be a main reason for Chinese ADPD.