唇腭裂是一种常见的先天性畸形,其病因非常复杂,目前倾向认为是由多种基因和环境因素共同作用的结果。常见的引起唇腭裂相关的基因有TGFA,TGFβ3,BCL3,F13A等;环境因素在唇腭裂发生中的遗传修饰作用也很重要,主要的环境激发因素包括致畸因子(如烟草、酒精、糖皮质激素等)、感染和营养缺乏。基于基因打靶技术建立的鼠基因敲除模型很好地模拟了人类疾病的表现型,成为研究唇腭裂的一种强有力手段。 Cleft lip and palate is a common congenital malformation, its etiology is very complex and presently tended to be the result of a combination of multiple genes and environmental factors. Common genetic factors that cause cleft lip and palate are TGFA, TGFβ3, BCL3, F13A, etc. Environmental factors play an important role in the genetic modification of cleft lip and palate. The main environmental triggers include teratogenic factors such as tobacco, alcohol, glucocorticoids Hormones, etc.), infections and nutritional deficiencies. The mouse knockout model based on gene targeting technology well mimics the phenotype of human diseases and becomes a powerful tool for studying cleft lip and palate.