山东地区汉族人群SLITRK6基因多态性与抽动秽语综合征遗传易感性关系的研究  

ASSOCIATION BETWEEN SLITRK6POLYMORPHISMS AND GENETIC SUSCEPTIBILITY TO TOURETTE SYNDROME IN CHINESE HAN POPULATION IN SHANDONG,CHINA

作　　者：张绪展 李慧[2] 李桂霞[1] 吕富岩 刘文淼 张铷 刘世国[4] ZHANG Xuzhan;LI Hui;LI Guixia;LYU Fuyan;LIU Wenmiao;ZHANG Ru;LIU Shiguo(Department of Clinical Laboratory, Heze Municipal Hospital, Heze 274000, China)

机构地区：[1]菏泽市立医院检验科,山东菏泽274000 [2]青岛大学附属医院检验科 [3]青岛市妇女儿童医院教育科 [4]青岛大学附属医院产前诊断中心

出　　处：《精准医学杂志》2018年第6期520-522,526,共4页Journal of Precision Medicine

基　　金：国家自然科学基金资助项目(30971586;81371499)

摘　　要：目的探讨山东地区汉族人群SLITRK6基因多态性与抽动秽语综合征(TS)间的关联性。方法共有295例TS核心家庭成员纳入本次研究,采用Taqman探针实时荧光定量PCR技术对TS核心家系成员SLITRK6基因rs3825413和rs7336083位点多态性进行检测,采用传递不平衡检验(TDT)、单倍型相对风险分析(HRR)和基于单倍型的单倍型相对风险分析(HHRR)评估SLITRK6基因的两个单核苷酸多态性位点(SNP)与TS的关联性。结果 TDT和HRR结果均表明,SLITRK6基因rs3825413和rs7336083位点与TS之间均不存在明显关联。HHRR结果同样表明,SLITRK6基因rs3825413和rs7336083位点与TS之间差异无统计学意义。结论SLITRK6基因rs3825413和rs7336083位点基因多态性与山东地区汉族人群TS的发病无明显关联,但仍需以更大样本量在不同种族中进行验证。Objective To investigate the association between SLITRK6 gene polymorphisms and Tourette Syndrome (TS) in the Chinese Han population in Shandong,China.Methods A total of 295 TS nuclear families were included in this study.Taqman probe real-time PCR was used to detect the single nucleotide polymorphisms (SNPs) of SLITRK6 rs3825413 and rs7336083; transmission disequilibrium test (TDT),haplotype relative risk (HRR),and haplotype-based haplotype relative risk (HHRR) were used to investigate the association of the SNPs of SLITRK6 rs3825413 and rs7336083 with TS.ResultsThe results of TDT and HRR showed that there was no significant association between SLITRK6 rs3825413/rs7336083 and TS,and HHRR obtained the same results.ConclusionThere is no significant association between SLITRK6 rs3825413/rs7336083 SNPs and TS in the Chinese Han population in Shandong,but the results need to be further verified in different ethnic groups with a larger sample size.

关 键 词：SLITRK6基因 多动秽语综合征 多态性 单核苷酸 疾病遗传易感性 山东 汉族 

分 类 号：R745.7[医药卫生—神经病学与精神病学] R394.5[医药卫生—临床医学]