先天性马蹄内翻足与GDF5基因关联研究

发布时间：2019-06-26 09:22

【摘要】：目的：检测先天性马蹄内翻足患者和对照人群中GDF5基因的基因型分布情况，，探讨GDF5基因单核苷酸多态性与先天性马蹄内翻足患者易感性之间的关联性。方法：病例组80名先天性马蹄内翻足患儿（汉族），年龄2周～3月；对照组86例，年龄3岁～6岁，收集静脉血1.0ml并提取DNA，Taqman技术检测GDF5基因单核苷酸多态性位点的不同等位基因、基因型在病例组和对照组的分布情况，统计分析与先天性马蹄内翻足患者易感性的关系。结果：GDF5基因的单核苷酸多态性位点rs143383的病例组和对照组基因型构成TT、TC、CC型其频率病例组为56%、38%、6%；对照组为56%、37%、7%。等位基因T、C频率病例组为75%、25%，病例组为74%、26%。卡方检验两者无显著差异性，对性别的分层比较也没有发现病例组与对照组的差异性。（P0.05）结论：研究表明汉族人群中GDF5基因多态性位点可能与先天性马蹄内翻足的发病无关。
[Abstract]:Objective: to detect the genotypic distribution of GDF5 gene in patients with congenital equinovarus and control population, and to explore the association between single nucleotides polymorphism of GDF5 gene and susceptibility to congenital equinovarus. Methods: 80 children with congenital equinovarus (Han nationality) were enrolled in the case group, aged from 2 weeks to 3 months, and 86 patients in the control group, aged from 3 to 6 years old. Venous blood 1.0ml was collected and DNA,Taqman was extracted to detect the different alleles of GDF5 gene single nucleotides polymorphism, and the distribution of genotypes in the case group and the control group. The relationship between the polymorphism and the susceptibility of congenital equinovarus was statistically analyzed. Results: the frequency of TT,TC, CC was 56%, 38%, 6% in the case group, 56%, 37% and 7% in the control group, and 56%, 37%, 7% in the case group and the control group, respectively, and the frequency of TT,TC, CC was 56%, 38%, 6% in the case group and 7% in the control group. The frequency of C was 75%, 25% in the C frequency group, 74% and 26% in the case group. There was no significant difference in Chi-square test between the two groups, and there was no difference between the case group and the control group. (P 0.05) conclusion: the study shows that the polymorphism of GDF5 gene in Han population may not be related to the incidence of congenital equinovarus.
【学位授予单位】：苏州大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R726.8

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