摘要
非综合征型唇腭裂是一种常见的出生缺陷，病因复杂，目前普遍认为是遗传因素和环境因素共同作用的结果。先天性唇腭裂易感基因是自全基因组测序以来的研究热点，筛选出的众多候选基因正不断被基因位点多态性检测、病例对照研究、Meta分析等方法验证，但结果迥异。该文就近年来研究较多的非综合征型唇腭裂易感基因以及环境因素与唇腭裂相互关系方面的研究进展展开综述。
Non-syndromic cleft lip with or without cleft palate is a common birth defect with complex causes, now widely considered as the result of interactions between genetic and environmental factors. Susceptible genes of congenital cleft lip with or without cleft palate have become a focus since the whole genome sequencing was available. Numerous candidate genes which were screened out are being constantly validated by gene poly- morphism detection, case-control study and meta analysis. But the results are inconsistent. In this article, we review the research progress on susceptible genes of non-syndromic cleft lip with or without cleft palate and the relationship between environmental factors and cleft lip with or without palate in recent years.
出处
《国际儿科学杂志》
2016年第8期631-634,637,共5页
International Journal of Pediatrics
基金
重庆市渝中区科技计划项目（20130121）
国家临床重点专科建设项目：小儿外科学[国卫办医函（2013）544]
关键词
非综合征型唇腭裂
易感基因
位点
环境因素
Non-syndromic cleft lip with or without cleft palate
Susceptible gene
Loci
Environmental factors
