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Csx/Nkx 2. 5 gene expression in embryonic hearts and its mutation in congenital heart disease
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 4
- DOI:
- 10.3760/cma.j.issn.1007-9408.2005.04.005
- Key Word:
- 心脏缺损,先天性;胎儿,儿脏;基因表达;突变;基因,同源盒
Abstract： 目的了解Csx/Nkx 2.5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/Nkx 2.5基因表达,采用PCRSSCP-银染和DNA测序技术检测Csx/Nkx 2.5基因突变.结果Csx/Nkx 2.5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/Nkx 2.5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.
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