GLI3基因表达与新疆维吾尔族先天性马蹄内翻足发病的关系

Pathogenic relation between GLI3 expression and idiopathic congenital talipes equinovarus in Xinjiang Uygur nationality

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 pathogenic relation between GLI3 expression and idiopathic congenital tali-pes equinovarus （ICTEV）in Xinjiang Uygur nationality.Methods Eighty-four cases of children with ICTEV （observation group,51 cases of Uygur,22 cases of Han）and 39 cases of children with normal foot trauma （control group,25 cases of Uygur,14 cases of Han）were chosen from Xinjiang.Real-time fluorescence quantitative PCR and Western blotting were used to analyze the mRNA and protein levels of GLI3 gene in the muscular tissues.Results The mRNA and protein levels of GLI3 were 0.61 ±0.02,68.72 ±3.05 in the foot muscular tissues in the observation group,while they were 0.07 ± 0.01 and 22.38 ±1.74 in the control group,which were significant different （all P 〈0.01）.The mRNA and protein lev-els of GLI3 in the foot muscular tissues from Uygur children of the observation group were 0.73 ±0.01 and 83.01 ±4.42, while they were 0.40 ±0.02 and 56.85 ±3.50 in Han,which were statistically different （all P 〈0.05）.There were no significant differences in GLI3 mRNA and protein expression levels between the Uygur and Han children in the control group （all P 〉0.05）.Conclusion There is some correlation between GLI3 gene expression and ICTEV,and the Uygur nationality who is easily affected by expression level of GLI3 gene is easier to get ICTEV.