【摘要】：目的：檢測(cè)先天性馬蹄內(nèi)翻足患者和對(duì)照人群中GDF5基因的基因型分布情況，，探討GDF5基因單核苷酸多態(tài)性與先天性馬蹄內(nèi)翻足患者易感性之間的關(guān)聯(lián)性。 方法：病例組80名先天性馬蹄內(nèi)翻足患兒（漢族），年齡2周～3月；對(duì)照組86例，年齡3歲～6歲，收集靜脈血1.0ml并提取DNA，Taqman技術(shù)檢測(cè)GDF5基因單核苷酸多態(tài)性位點(diǎn)的不同等位基因、基因型在病例組和對(duì)照組的分布情況，統(tǒng)計(jì)分析與先天性馬蹄內(nèi)翻足患者易感性的關(guān)系。 結(jié)果：GDF5基因的單核苷酸多態(tài)性位點(diǎn)rs143383的病例組和對(duì)照組基因型構(gòu)成TT、TC、CC型其頻率病例組為56%、38%、6%；對(duì)照組為56%、37%、7%。等位基因T、C頻率病例組為75%、25%，病例組為74%、26%�？ǚ綑z驗(yàn)兩者無顯著差異性，對(duì)性別的分層比較也沒有發(fā)現(xiàn)病例組與對(duì)照組的差異性。（P0.05） 結(jié)論：研究表明漢族人群中GDF5基因多態(tài)性位點(diǎn)可能與先天性馬蹄內(nèi)翻足的發(fā)病無關(guān)。
[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.
【學(xué)位授予單位】：蘇州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R726.8

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