尿道下裂患儿包皮HoxA13基因表达及其病理价值

HoxA13 gene expression and its pathological value in prepuce of patients with hypospadias

目的:研究尿道下裂患儿包皮HoxA13核酸及其蛋白表达,探讨其与尿道下裂发生是否具有相关性.方法:以25例尿道下裂及15例包茎患儿为研究对象,选取其包皮组织,采用实时荧光定量PCR及免疫组织化学方法分别检测HoxA13mRNA及蛋白表达水平.结果:HoxA13mRNA表达水平在尿道下裂患儿中明显低于对照组,相对表达量分别为[(9.5±6.5),(52.8±35.7),P<0.01];HoxA13蛋白表达于皮肤表皮层,在尿道下裂组呈阴性～弱阳性,对照组呈阳性～强阳性.结论:尿道下裂患儿包皮中HoxA13基因及蛋白表达较正常儿童降低,提示HoxA13基因表达异常可能与尿道下裂发生相关,其表达异常可能影响胚胎期尿道发育.

AIM： To investigate the etiological role of HoxA13 gene in hypospadias by detecting the HoxA13 gene expression in the prepuce of patients with hypospadias. METHODS： Twentyfive cases with hypospadias and 15 cases with circumcisions （as control） were included in this study. HoxA13 mRNA and protein expression were detected by SYBR green I real-time polymerase chain reaction and immunohistochemistry. RESULTS： HoxA13 mRNA expressions in the prepuce of cases with hypospadias reduced significantly compared with those in control [ （ 9.5 ± 6.5 ）, （52.8 ± 35.7）, P 〈 0.01 ]. HoxA13 protein expressed in epidermis and localized at cytoplasm. In tissues of hypospadias, the protein showed negative or weakly positive, but strongly positive in the controls. CONCLUSION： HoxA13 expression is significantly lower in the prepuce of cases with hypospadias, indicating that the dysfunction of HoxA13 is possibly related to hypospadias.