在中国汉族人群中，以家系传递分析肿瘤坏死因子a-308A/G单核苷酸多 态性与抽动秽语综合征

目的:探讨在中国汉族人群中,肿瘤坏死因子a(TNF-alpha,TNF-a)基因启动子区-308A/G单核苷酸多态性与抽动秽语综合征(Tourette syndrome,TS)的遗传易感性。方法:91例TS患者及其父母组成的核心家系成员经聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment lengthpolymor phism,PCR-RFLP)方法进行基因分型,评估所有研究对象的TNF-a-308A/G位点的等位基因频率和基因型频率的分布,进行传递不平衡检验(transmission disequilibrium test,TDT),单体型相对风险(haplotype-based haplotyp erelativerisk,HHRR),单体型风险(haplotype relative riskHRR)的研究。结果:TS患者及其父母的等位基因分布经Hardy-Weinberg(H-W)平衡检验显示符合遗传平衡法则。(x2<3.84;P>0.05)TDT、HHRR和HRR研究结果显示该多态性位点的等位基因频率和基因型频率均不存在传递不平衡。结论:我们的数据表明肿瘤坏死因子a启动子区-308A/G单核苷酸多态性位点不是中国汉族人群TS的易感基因位点。

Family-based transmission analysis of -308A/G polymorphism in TNF-alpha with Tourette syndrome in Chinese Han population

Objective:To investigate the relationship between -308A/G polymorphism in the promoter region of TNF-alpha and susceptibility to Tourette syndrome in Chinese Han population. Methods: Genetic distribution of-308A/G polymorphism in TNF-alpha of 91 trios were evaluated by using case-control study method based on nuclear family including transmission disequilibrium test (TDT),haplotype relative risk (HRR) and haplotype-based haplotype relative risk(HHRR). Results: -308A/G polymorphism in TNF-alpha of 91trios was in accordance with Hardy-Weinberg equilibrium in genotype distribution. (x2＜3.84;P＞0.05). There was not biased transmission of allele from parents to their affected offspring in our informative samples in -308A/G polymorphism. HRR and HHRR had not any associations with TS at -308A/G polymorphism in TNF-alpha. Conclusion: -308A/G polymorphism in the promoter region of TNF-alpha was not associated with susceptibility to Tourette syndrome in Chinese Han population.