FoxO1在新疆维吾尔族先天性马蹄内翻足的表达及其临床意义

摘要

目的 探讨FoxO1基因在新疆维吾尔族先天性马蹄内翻足(ICTEV)中的表达及FoxO1与先天性马蹄内翻足畸形程度的相关性.方法 运用Western Blot方法检测新疆地区51例维吾尔族先天性马蹄内翻足患儿和25例维吾尔族健康儿童足部肌肉组织中FoxO1蛋白表达水平;应用实时荧光定量PCR测定不同畸形程度维吾尔族先天性马蹄内翻足患儿FoxO1 mRNA相对表达量.结果 Western Blot检测结果显示ICTEV患儿FoxO1蛋白表达水平(0.52±0.23)低于正常儿童(1.61±0.15),两组比较差异有统计学意义(P=0.017).实时荧光定量PCR检测显示,DimeglioⅡ、Ⅲ、Ⅳ型ICTEV的FoxO1 mRNA相对表达量分别为1.02±0.24、0.67±0.15、0.24±0.19;维吾尔族ICTEV畸形程度与FoxO1 mRNA相对表达量呈负相关性(P=0.039).结论 FoxO1基因转录水平随ICTEV畸形程度的加重而逐渐降低,提示FoxO1基因可能参与了维吾尔族ICTEV的整个发病过程.%Objective To investigate the expression of FoxO1 gene in idiopathic congenital talipes equinovarus(ICTEV) in Xinjiang Uigur and its correlastion with deformity degree of ICTEV.Methods The FoxO1 protein expression level of foot muscle tissues in 51 Uigur children cases of ICTEV and 25 Uigur normal children were detected by Western blot,the relative expression level of FoxO1 mRNA in different deformity degrees of ICTEV was detected by using real time fluorescence quantitative PCR.Results The Western Blot detection results showed that the expression level of FoxO1 protein in ICTEV children patients was (0.52 ± 0.03),which was lower than(1.61 ± 0.15) in normal children,the difference was statistically significant (P =0.017).The real time fluorescence quantitative PCR detection showed that the relative expression level of FoxO1 mRNA in the Dimeglio type Ⅱ,Ⅲ and Ⅳ were 1.02±0.24,0.67±0.15 and 0.24±0.19 respectively.There was negative correlation between the deformity degree of ICTEV and FoxO1 mRNA relative expression level.Conclusion The transcription level of FoxO1 gene is gradually decreased with the deformity degree aggravation of ICTEV,suggesting that the FoxO1 gene may involve in the whole onset process of Uigur ICTEV.