DLG2、RBMS3和NAP5基因多态性与中国北方地区汉族帕金森病的相关性  

Relationship between DLG2, RBMS3 and NAP5 gene polymorphisms and Han Parkinson's disease in northern China

作　　者：杨新瑞 罗晓光[2] 朱文清 于裴夫 张思怡 周玉章 庞灏 YANG Xin-rui;LUO Xiao-guang;ZHU Wen-qing(Forensic Physical Evidence Teaching and Research Offical,School of Forensic Medicine,China Medical University,Shenyang 110122,China)

机构地区：[1]中国医科大学法医学院法医物证学教研室,沈阳110122 [2]中国医科大学附属第一医院神经内科

出　　处：《临床神经病学杂志》2018年第5期324-327,共4页Journal of Clinical Neurology

基　　金：国家自然科学基金(81471826)

摘　　要：目的探究DLG2、RBMS3和NAP5基因的3个单核苷酸多态性(SNPs)(rs7479949、rs2053288和rs12612615)以及NAP5基因的1个插入缺失标记(In Del)(rs778533301)与中国北方地区帕金森病(PD)的相关性。方法采用PCR-限制性片段长度多态性分析技术,对中国北方地区汉族332名健康个体和331例PD患者的rs7479949、rs2053288、rs12612615和rs778533301位点进行遗传多态性调查,并将获得的对照组及PD组数据进行相关统计分析。结果本研究成功对3个SNPs及NAP5基因的In Del位点进行了基因型分型,除了rs778533301位点未观察到多态性外,其他3个SNPs位点在PD组和对照组均显示出明显的遗传多态性分布,但两组间比较等位基因频率和基因型频率差异无统计学意义(均P> 0. 05)。结论 DLG2基因的rs7479949、RBMS3基因的rs2053288以及NAP5基因的rs12612615和rs778533301位点在中国北方地区汉族群体中与PD无相关性。Objective To explore the relationship between the gene polymorphisms of 3 single nucleotide polymorphisms （SNPs） （rs7479949, rs2053288 and rs12612615 ） in DLG2, RBMS3 and NAP5 genes and 1 insertion/deletion marker （InDel） （rs778533301） in NAP5 genes and Han Parkinson disease （PD） in northern China. Methods Using PCR-Restriction fragment length polymorphism assays, genetic polymorphisms were investigated at rs7479949, rs2053288, rs12612615 and rs778533301 in 332 healthy Han individuals and 331 PD patients. The data of control group and PD group were analyzed. Results In this study, the genotyping of 3 SNPs and InDel marker of NAP5 gene was successfully performed. Except for rs778533301 locus, the other 3 SNPs showed significant genetic polymorphisms in PD group and control group. However, there was no significant difference between the two groups in the frequency of alleles and genotypes （ all P 〉 0. 05 ）. Conclusion The rs7479949 in DLG2 gene, rs2053288 in RBMS3 gene and rs12612615, rs778533301 in NAP5 gene are not related to Han PD in northern China.

关 键 词：帕金森病 DLG2基因 RBMS3基因 NAP5基因 

分 类 号：R742.5[医药卫生—神经病学与精神病学]