汉族散发法洛四联症患儿GATA6、TBX20基因的表达研究

目的:通过研究中国汉族法洛四联症(tetralogy of Fallot,TOF)患儿心肌中GATA6、TBX20基因的表达变化,初步探讨GATA6、TBX20基因与汉族TOF分子发病机制之间的关系。方法:实验组选取中国汉族TOF患儿15例,年龄6.5个月～8岁,平均1.9岁,术中常规切除并留取右心室流出道肥厚心肌;对照组选取汉族室间隔缺损患儿15例,年龄4.5个月～5岁,平均2.2岁。术中留取患儿右心房壁少量心肌组织。提取心肌组织RNA,应用实时荧光聚合酶链反应检测两组心肌中的GATA6、TBX20基因mRNA表达;应用免疫组化染色技术,检测两组心肌中的GATA6、TBX20蛋白的表达并进行统计学比较分析。结果:TOF患者心肌中GATA6、TBX20基因mRNA和蛋白表达水平均较对照组显著降低,差异有统计学意义;同时,TOF患儿心肌TBX20mRNA水平与患儿肺动脉指数呈正相关(r=0.6782,P<0.05)。结论:人类心肌中存在GATA6、TBX20mRNA和蛋白的表达;在中国汉族人群中,TOF的发生可能与心肌组织中GATA6、TBX20基因表达下调有关。

GATA6 and TBX20 expression among the Han ethnic children with tetralogy of Fallot

Objective:To study the relationship between GATA6,TBX20 gene and the molecular nosogenesis of the Han ethnic tetralogy of Fallot(TOF) through investigating the myocardial expression levels of GATA6,TBX20 mRNA and protein in the Chinese Han ethnic TOF children.Methods: A total of 15 Han ethnic TOF children with the mean age of 1.9 years(4.5 months~8 years) were recruited into the experimental group.The hypertrophic heart muscle in the right ventricle outflow tract of these TOF children was routinely excised and carefully cryopreserved.The control group consisted of 15 Han ethnic ventricular septal defect children at 2.2 on average(4.5 months~5 years).The myocardium specimen was collected from the right atrium of these children.The levels of GATA6,TBX20mRNA of the two groups were investigated through realtime PCR.Immunohistochemical staining was used to detect GATA6,TBX20 protein.Data from the two groups was compared by two independent samples t-test and Bivariate Correlations method.Results: On both mRNA and protein levels,GATA6 and TBX20 expression in TOF group was significantly down-regulated.Meanwhile,a positive correlation was found between the TBX20mRNA levels and the pulmonary artery index in TOF children(r=0.6782,P<0.05).Conclusion: The expression products(mRNA and protein) of GATA6 and TBX20 are detectable in human myocardium.TOF in the Chinese Han ethnic is possibly related to the decreased myocardial expression of GATA6 and TBX20.