【摘要】：目的：檢測先天性馬蹄內(nèi)翻足患者和對照人群中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GDF5基因單核苷酸多態(tài)性位點的不同等位基因、基因型在病例組和對照組的分布情況，統(tǒng)計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rs143383的病例組和對照組基因型構(gòu)成TT、TC、CC型其頻率病例組為56%、38%、6%；對照組為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驗兩者無顯著差異性，對性別的分層比較也沒有發(fā)現(xiàn)病例組與對照組的差異性。（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)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R726.8

【參考文獻(xiàn)】

相關(guān)期刊論文 前4條

1 劉麗英;金春蓮;曹東華;趙寧;林長坤;孫開來;;COL9A1基因與先天性馬蹄內(nèi)翻足相關(guān)性的研究[J];遺傳;2007年04期

2 趙寧;金春蓮;劉麗英;曹東華;林長坤;吉士俊;孫開來;;COL1A1基因轉(zhuǎn)錄調(diào)控序列變異與單純性馬蹄內(nèi)翻足的相關(guān)性[J];遺傳;2008年06期

3 戴進(jìn);諸蓬生;朱倫慶;秦江輝;王珂杰;諸洪濤;趙寶成;史冬泉;蔣青;;生長分化因子5的基因多態(tài)性與先天性髖關(guān)節(jié)發(fā)育不良的相關(guān)性研究[J];中國骨與關(guān)節(jié)外科;2009年03期

4 任舒月,麻宏偉,姜俊,吉士俊,馬瑞雪,王大佳,陳秋;先天性馬蹄內(nèi)翻足與PAX5、PAX6和TBX3基因傳遞不平衡研究[J];中華小兒外科雜志;2004年05期

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