唇腭裂发病机制的研究进展

摘要

Nonsyndromic cleft lip with or without palate is a complex heterogenetic disease influenced by multiple genes,and its pathogenesis has always been a hot spot and difficulty of craniofacial surgery research.We now have known clearly about the oralfacial morphogenesis process,but some questions about its tissue origin and transformation are still controversial.The implementation and completion of the human genome project has promoted the pathogenic gene research of cleft lip and palate,however so far there is no one who can completely explain the pathogenesis.In spite of all the difficulties,the researchers never lose their hope,and the post-genome era with the development of epigenetics and network regulation will surely take the etiology research of nonsyndromic cleft lip and palate into a new stage.%非综合征性唇腭裂是一种典型的多基因影响的复杂异质性疾病,其发病机制的研究一直是颅面外科学研究的热点和难点.人们对口面部形态发生过程已经非常清楚,但是其组织起源和转化的一些问题仍颇具争议.人类基因组计划的实施和完成促进了唇腭裂致病基因的研究,但是至今为止没有一个基因能完整地解释唇腭裂的发病机制.尽管困难重重,但研究者们从不缺乏希望,而后基因组时代表观遗传学的发展和网络调控的研究定将使非综合征性唇腭裂的病因学研究进入一个新的阶段.