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首页> 外文期刊>Journal of clinical laboratory analysis. >Association of genetic variations in X-Ray repair cross-complementing group 1 and tourette syndrome
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Association of genetic variations in X-Ray repair cross-complementing group 1 and tourette syndrome

机译:X射线修复交叉互补组1和抽动秽语综合征的遗传变异关联

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Background: X-ray repair cross-complementing group 1 (XRCC1) plays a central role in mammalian DNA repair process. The polymorphism rs25487 (Arg>Gln at codon 399) of this gene is common in Han Chinese population. Objectives: The objective of this study was to analyze the association between this functional SNP of XRCC1 and Tourette syndrome (TS) in Han Taiwan Chinese population. Methods: Genotyping was performed by using PCR-RFLP method on 73 TS patients and 158 normal controls. Results: Our data indicated that genotype frequency of A/G polymorphism at codon 399 of the patients differed from the controls (P = 0.026, OR: 2.22, 95% CI: 1.22-4.03). The allele frequency analysis also showed significant differences with higher A allele frequency in patients (P = 0.015, OR: 1.70, 95% CI: 1.11-2.62). Conclusion: Our study indicates that the functional SNP at codon 399 of XRCC1 is associated with TS development.
机译:背景:X射线修复交叉互补基团1(XRCC1)在哺乳动物DNA修复过程中起着核心作用。该基因的多态性rs25487(Arg> Gln,密码子399)在汉族人群中很常见。目的:本研究的目的是分析台湾汉族人群中XRCC1的功能性SNP与Tourette综合征(TS)之间的关联。方法:采用PCR-RFLP方法对73例TS患者和158例正常人进行基因分型。结果:我们的数据表明,该患者399位密码子A / G多态性的基因型频率与对照组不同(P = 0.026,OR:2.22,95%CI:1.22-4.03)。等位基因频率分析还显示,患者中较高的A等位基因频率具有显着差异(P = 0.015,OR:1.70,95%CI:1.11-2.62)。结论:我们的研究表明,XRCC1 399密码子的功能性SNP与TS发育有关。

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