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目的了解Csx/Nkx2.5基因在胚胎心脏发育过程中的表达情况及在先天性心脏病(先心病)患者中的突变情况。方法采用免疫组化方法检测Csx/Nkx2.5基因表达,采用PCR-SSCP-银染和DNA测序技术检测Csx/Nkx2.5基因突变。结果Csx/Nkx2.5基因在心房、小梁网中高表达。16周后心房表达趋于稳定,小梁网的表达稍有下降。在心室的表达早期较弱,逐渐升高,13至16周增加幅度最大,16周后表达趋于稳定。心外膜不表达。在126例先心病患儿、16例先心病胎儿和30例正常人中发现编码21位氨基酸密码子的第3位碱基的三种多态性:A、G、A/G。结论Csx/Nkx2.5基因在胚胎心脏发育过程中的表达有严格的时空规律,说明该基因在心脏发育过程中发挥重要作用。本研究中,无论是散发性或家族性先心病病例,均未检测到与先心病有关的突变。
Objective To investigate the expression of Csx / Nkx2.5 gene in embryonic heart development and its mutation in patients with congenital heart disease (CHD). Methods The gene expression of Csx / Nkx2.5 was detected by immunohistochemistry. The gene mutation of Csx / Nkx2.5 was detected by PCR-SSCP-silver staining and DNA sequencing. Results The Csx / Nkx2.5 gene was highly expressed in the atria and trabecular meshwork. Atrial expression tended to be stable after 16 weeks, and the expression of trabecular meshwork slightly decreased. The expression in the ventricle was weaker and gradually increased in the early stage, the largest increase was seen in 13 to 16 weeks, and the expression tended to be stable after 16 weeks. Epicardium does not express. Three polymorphisms of the third base encoding the 21 amino acid codon, A, G, A / G, were found in 126 patients with congenital heart disease, 16 fetuses with congenital heart disease and 30 normal individuals. Conclusion The expression of Csx / Nkx2.5 gene in the process of embryonic heart development has strict temporal and spatial rules, indicating that this gene plays an important role in cardiac development. In this study, no congenital heart disease-related mutations were detected in either sporadic or familial cases of congenital heart disease.