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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。
Objective: To investigate the association of -308A / G SNP in the promoter region of tumor necrosis factor alpha (TNF-alpha, TNF-a) with Tourette syndrome (TS) in Chinese Han population Susceptibility. Methods: Ninety-one core family members of TS patients and their parents were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) The frequencies of alleles and genotypes of the TNF-a-308A / G locus were investigated for transmission disequilibrium test (TDT), haplotype-based haplotype erelativerisk (HHRR ), Haplotype risk (haplotype relative riskHRR) research. Results: The distribution of alleles in patients with TS and their parents was shown to be in line with the law of genetic balance by the Hardy-Weinberg (H-W) balance test. (x2 <3.84; P> 0.05) The results of TDT, HHRR and HRR showed that allele frequency and genotype frequency of the polymorphic loci did not exist transmission imbalance. CONCLUSION: Our data suggest that the -308A / G single nucleotide polymorphism site in tumor necrosis factor a promoter region is not a susceptibility locus for TS in Chinese Han population.