泛素特异性蛋白酶24基因多态性与广东汉族人群散发性帕金森病的关系.pdf

中国康复理论与实践2017年3月第23卷第3期 ChinJRehabilTheoryPract,Mar.,2017,Vol.23,No.3 - 345 - DOI: 10.3969/j.issn. 1006-9771.2017.03.021 ·临床研究 · 泛素特异性蛋白酶24 基因多态性与广东汉族人群 散发性帕金森病的关系⓪ 林智君，陈煜森，钟望涛，刘洲，冼文川，陈霄仪，赵斌 [摘要] 目的 探讨泛素特异性蛋白酶24 (USP24)基因多态性与广东汉族人群散发性帕金森病(PD)的相关性。方法 2006 年8 月至2014 年1月，采用SNaPshot 技术对200 例广东汉族人群散发性PD 患者(病例组)和200 名健康者(对照组) USP24 基因内含子区 多态性位点rsrs6671533 进行基因型检测。结果 病例组rs点的等位基因和基因型频率分布与对照组有非常 显著性差异(P0.01) ，rs6671533 位点等位基因和基因型频率分布与对照组无显著性差异(P0.05) 。结论 USP24 基因内含子区多态 性位点rs广东汉族人群散发性PD 易感性相关，A 等位基因可能是PD 发病的保护因素。 [关键词] 泛素特异性蛋白酶24 ；帕金森病；基因多态性 Association between Ubiquitin-specific Proteases 24 Gene Polymorphisms and Sporadic Parkinsons Disease in the Han Guangdong Population LIN Zhi-jun, CHEN Yu-sen, ZHONG Wang-tao, LIU Zhou, XIAN Wen-chuan, CHEN Xiao-yi, ZHAO Bin Department of Neurology, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524001, China Correspondence to CHEN Yu-sen. E-mail: chenyusen925@163.com Abstract: Objective To explore the association of ubiquitin-specific proteases 24 (USP24) gene polymorphisms with susceptibility to sporadic Parkinsons disease (PD) in the Han Guangdong population. Methods From August, 2006 to January, 2014, single nucleotide poly- morphisms (SNPs) of rsand rs6671533 in the intron region of USP24 were genotyped in 200 patients with sporadic PD and 200 healthy controls using the SNaPshot technique. Results There was significant difference in the allele and genotype frequency of rs between the patients and the controls (P0.01), and no significant difference was found in the allele and genotype frequency of rs6671533 (P0.05). Conclusion The SNP of rs 1213