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胚胎心脏的正常发育有赖于各相关基因的精确表达,涉及复杂的基因调控模式,其中任一环节出现偏差都会导致心脏畸形的发生.不同物种的Tbx2基因表达最终都局限在非腔室心肌区域的房室管,这提示Tbx2基因在心脏发育中时空表达的一致性和进化过程的高度保守性.Tbx2作为T-box转录因子家族的成员之一,主要参与心脏流出道和房室管的发生,通过调节下游目的基因的转录水平,从而引起一系列的调节通路变化.目前越来越多的研究表明,Tbx2表达水平或调控异常导致了不同模式动物心脏畸形的发生.临床报道也证实TBX2所在片段的微缺失/重复及其非编码区遗传变异与人类先天性心脏病的发生密切相关.该文综述了Tbx2在胚胎心脏发育中的功能、可能的调控机制及与先天性心脏病的关系.“,”Embryonic cardiogenesis requires precise expression of various genes.This process involves a complex model of gene regulation,in which any deviation will lead to the occurrence of heart defects.Expression of Tbx2 in different species is ultimately confined to the atrioventricular canal in the non-ventricular myocardium,suggesting that the temporal and spatial expression of Tbx2 gene during cardiac development is highly consistent and evolutionarily conserved.As a member of the T-box transcription factor family,Tbx2 plays an important role in the differentiation of outflow tract and atrioventricular canal,leading to a series of changes in the regulatory pathway by regulating the transcription levels of the downstream target genes.At present,more and more studies have indicated that aberrant expressions or regulations of Tbx2 result in cardiac malformations in different model animals.In clinical studies,microdeletions/duplications in the fragments involving TBX2 and genetic variants in the non-coding region of this gene have also been reported in human congenital heart defects.Thus,this article is to review the advances in the effect and possible mechanisms for Tbx2 gene in cardiac development,and to discuss the relationship between this gene and congenital heart defects.