摘要
非综合征性唇腭裂是人类常见的先天性畸形之一,分为非综合征性唇裂或伴腭裂和单纯性腭裂,是一种多基因多因素遗传性疾病,常见的非综合征性唇腭裂相关性候选基因有干扰素调节因子6、亚甲基四氢叶酸还原酶、转化生长因子、肌节同源盒基因1和视黄酸受体α等。本文就最常见的候选基因位点与非综合征性唇腭裂关系的研究进展作一综述。
Non-syndromic cleft lip and palate (NSCLP) is one of the most common congenital malformations in human, which is composed of two entities: Cleft lip with or without cleft lip and palate and cleft palate only. NSCLP is a complex disease caused by genetic and environmental factors and their interactions. So far, many candidate genes have been found to be related to this disease, such as interferon regulatory factor 6, methylenetetrahydrofolate reduetase, transforming growth factorα, muscle segment homeobox gene 1, retinoic acid receptor α, etc. This review will briefly summarize the relation between most valuable candidate gene site in chromosomes and NSCLP.
出处
《国际口腔医学杂志》
CAS
2012年第6期760-765,共6页
International Journal of Stomatology
关键词
唇腭裂
非综合征性
候选基因
位点
cleft lip and palate
non-syndromic
candidate genes: site