目的探讨GLI3基因表达与新疆维吾尔族先天性马蹄内翻足(ICTEV)发病之间的关系。方法选择新疆地区84例ICTEV患儿(维吾尔族51例,汉族33例)和39例足部创伤正常儿童(维吾尔族25例,汉族14例),分别采用实时荧光定量PCR、Western blot法检测足部肌肉组织中的GLI3 mRNA及蛋白。结果观察组足部肌肉组织中GLI3 mRNA及蛋白相对表达量分别为0.61±0.02、68.72±3.05,对照组分别为0.07±0.01、22.38±1.74,P均<0.01;观察组维吾尔族患儿足部肌肉组织中GLI3 mRNA及蛋白相对表达量分别为0.73±0.01、83.01±4.42,汉族患儿分别为0.40±0.02、56.85±3.50,P均<0.05;对照组维吾尔族和汉族患儿足部肌肉组织中GLI3mRNA及蛋白相对表达量比较,P均>0.05。结论 GLI3基因表达与新疆维吾尔族ICTEV的发病有一定关系,维吾尔族可能更易受GLI3基因表达水平的影响而导致ICTEV的发生。 Objective To investigate the relationship between the expression of GLI3 gene and the incidence of congenital clubfoot (ICTEV) in Uygur in Xinjiang. Methods Eighty-four children with ICTEV (51 Uygur and 33 Han) and 39 normal children with foot trauma (25 Uygur and 14 Han nationality) were enrolled in this study. Real-time quantitative PCR and Western blot were used to detect foot Department of muscle tissue in the GLI3 mRNA and protein. Results The relative expression of GLI3 mRNA and protein in the foot muscle of the observation group were 0.61 ± 0.02,68.72 ± 3.05 and 0.07 ± 0.01,22.38 ± 1.74 respectively in the control group, P <0.01; in the observation group, the foot of the Uygur children The relative expression of GLI3 mRNA and protein in muscle tissue were 0.73 ± 0.01 and 83.01 ± 4.42, respectively, and the Han children were 0.40 ± 0.02 and 56.85 ± 3.50, P <0.05 respectively. In control group, foot muscle tissue in children with Uygur and Han In GLI3 mRNA and protein relative expression levels, P> 0.05. Conclusion The expression of GLI3 is related to the incidence of ICTEV in Uygur in Xinjiang Uygur ethnicity may be more likely to be affected by the expression of GLI3 gene and lead to the occurrence of ICTEV.