先天性马蹄内翻足患者足踝部肌肉组织C/EBPβ的表达及形态学改变

Expression and distribution of C/EBPβ mRNA and protein in ankle muscle tissue of idiopathic congenital talipes equinovarus patients

目的研究C/EBPβ在先天性马蹄内翻足患者足踝部肌肉组织中的表达,探讨细胞系的选择。方法应用RT-PCR、免疫组化、免疫荧光等技术分别检测先天性马蹄内翻足患者足踝部肌肉组织中C/EBPβ的表达及相应的形态学改变。结果与同龄对照相比,C/EBPβ在先天性马蹄内翻足患者足踝部肌肉组织中表达明显下调,相对于正常组织,病变组织结构紊乱,核脱失。免疫荧光结果提示C/EBPβ主要在细胞质中表达,但在肿瘤细胞如人横纹肌肉瘤细胞中呈现细胞质、细胞核均一性表达。结论 C/EBPβ的低表达可能与先天性马蹄内翻足畸形发生相关,病变组织细胞核可能已经失去功能,可能存在纤维化。

Objective To investigate the role of gene C/EBPβ in idiopathic congenital talipes equinovarus（ICTEV）and give the proposal of the research process in the cell line selection.Methods The expression of C/EBPβ mRNA and protein was assayed in human muscle tissue of ankle including ICTEV patients＇and normal controls＇by RT-PCR,immunohistochemistry and immunofluorescence respectively.Results The average optical density（AOD）ratio for C/EBPβ mRNA/β-Actin mRNA was much lower in ICTEV patients than in normal controls（P〈0.05）.The results of C/EBPβ protein were the same as for mRNA and morphological changes in ICTEV were accorded with fibrosis in tissues and organs and general fibroelastosis.Conclusion Changes of C/EBPβ gene expression may be related to the development of talipes equinovarus malformation which might exhist the fibrosis of interior foot.