先天性巨结肠症患儿病变组织FOXA1、Pyk2的表达水平  

Expression of FOXA1 and Pyk2 in Hirschsprung's disease

作　　者：靳杯 张建安[1] 王敏[1] 李新房[1] 孔德帅 赵萍[2] JIN Bei;ZHANG Jianan;WANG Min;LI Xinfang;KONGN Deshuai;ZHAO Ping(Department of Pediatric Surgery,Handan Central Hospital,Handan,Hebei,China,056008;Department of Neurology,Handan Central Hospital,Handan,Hebei,China,056008)

机构地区：[1]邯郸市中心医院儿外科,河北邯郸056008 [2]邯郸市中心医院神经内科,河北邯郸056008

出　　处：《分子诊断与治疗杂志》2025年第2期313-316,321,共5页Journal of Molecular Diagnostics and Therapy

基　　金：河北省医学科学研究课题计划项目(20240453)。

摘　　要：目的探讨先天性巨结肠症(HD)患儿病变组织叉头盒蛋白A(FOXA1)、富含脯氨酸的酪氨酸激酶(Pyk2)的表达水平。方法选择2021年1月至2023年12月于邯郸市中心医院接受巨结肠切除手术的HD患儿110例,选取痉挛段无神经节细胞的病变结肠组织作为病变组,同时选取同一患儿距离病变组织至少5厘米的正常结肠组织作为对照组。分别采用RT-qPCR法和免疫组化染色法检测两组组织中FOXA1、Pyk2 mRNA与蛋白表达水平。使用Spearman相关分析法分析病变结肠组织FOXA1与Pyk2的关系,分析FOXA1、Pyk2表达与HD患儿临床资料的关系。结果病变组FOXA1、Pyk2 mRNA和蛋白相对表达量均高于对照组,差异有统计学意义(P<0.05)。病变组FOXA1、Pyk2阳性表达率均高于对照组,差异有统计学意义(P<0.05)。Spearman相关分析显示,病变结肠组织FOXA1 mRNA表达与Pyk2 mRNA表达呈正相关(P<0.05),FOXA1蛋白表达与Pyk2蛋白表达呈正相关(P<0.05)。性别为男性、有HD家族史的患者FOXA1、Pyk2阳性表达率均分别高于性别为女性、无HD家族史的患者,差异有统计学意义(P<0.05)。结论HD患儿病变结肠组织中FOXA1和Pyk2表达水平升高,二指标可能与患儿的性别和家族史有关。Objective To investigate the expression of forkhead box protein A(FOXA1)and proline-rich tyrosine kinase 2(Pyk2)in the diseased tissue of patients with Hirschhorn's disease(HD).Methods 110 HD patients who underwent megacolon resection surgery at Handan Central Hospital from January 2021 to December 2023 were selected.The diseased colon tissue without ganglion cells in the spastic segment was selected as the lesion group,while the normal colon tissue at a distance of at least 5 centimeters from the diseased tissue was selected as the control group.RT-qPCR and immunohistochemical staining were used to detect the mRNA and protein expression levels of FOXA1 and Pyk2 in tissues.Statistical methods were used to compare the mRNA and protein expression levels of FOXA1 and Pyk2 in two groups.Spearman correlation analysis was used to analyze the relationship between FOXA1 and Pyk2 in diseased colon tissue,and clinical data of all study subjects were collected.Results The relative expression of FOXA1 and Pyk2 mRNA and protein in the lesion group was higher than those in the control group,and the differences were statistically significant(P<0.05).The positive expression rates of FOXA1 and Pyk2 in the lesion group were higher than those in the control group,and and the differences were statistically significant(P<0.05).Spearman correlation analysis showed that the FOXA1 mRNA was positively correlated with the Pyk2 mRNA(P<0.05),and the FOXA1 protein was positively correlated with the Pyk2 protein(P<0.05).The positive expression rates of FOXA1 and Pyk2 in male patients with a family history of HD were higher than those in female patients without a family history of HD,and the differences were statistically significant(P<0.05).Conclusion The levels of FOXA1 and Pyk2 in diseased colon tissues of HD children are elevated,and this increase is associated with the gender and family history of the children.

关 键 词：叉头盒蛋白A 富含脯氨酸的酪氨酸激酶 先天性巨结肠症 

分 类 号：R73[医药卫生—肿瘤]