| 綦丰光王培林△ 王修海刘世国.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[J].现代生物医学进展英文版,2011,11(3):417-420. |
| 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 |
| Family-based transmission analysis of -308A/G polymorphism inTNF-alpha with Tourette syndrome in Chinese Han population |
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| DOI： |
| 中文关键词: 图雷特综合症 肿瘤坏死因子α 传递不平衡检验 单体型相对风险 单体型风险 |
| 英文关键词: Tourette syndrome TNF-α TDT HRR HHRR |
| 基金项目: |
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| 中文摘要: |
| 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 length polymorphism，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 haplotype relative risk，HHRR)，单体型风险(haplotype relative risk HRR)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。 |
| 英文摘要: |
| 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 91
trios 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. |
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