Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease
Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease
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DOI：
10.1016/j.neulet.2012.03.086
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发表时间：
2012-05
影响因子：
2.5
通讯作者：
J. Tian;Ji-feng Guo;Lei Wang;Qi-ying Sun;Ling-yan Yao;Lin-zi Luo;Chang-he Shi;Yacen Hu;Xinxiang Yan;B. Tang
中科院分区：
文献类型：
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作者：
J. Tian;Ji-feng Guo;Lei Wang;Qi-ying Sun;Ling-yan Yao;Lin-zi Luo;Chang-he Shi;Yacen Hu;Xinxiang Yan;B. Tang
常染色体显性帕金森病（ADPD）与SCNA、LRRK2、UCHL1、HtrA2和GIGYF2基因突变相关。我们研究了所有五个基因的变异的患病率在12个中国无关的家庭与ADPD和4个家庭的原发性震颤（ET）和帕金森病（PD）表型使用直接测序分析。结果发现LRRK2基因有27个变异，GIGYF2基因有8个变异，SCNA和UCHL1基因各有3个变异，其中5个为新变异。但在这些家系中均未发现这5个基因的致病突变。结果提示SCNA、LRRK2、UCHL1、HtrA2和GIGYF2基因突变可能不是中国人ADPD的主要原因。
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’ mutations might not be a main reason for Chinese ADPD.