期刊导航

论文摘要

非综合征性唇腭裂候选基因的研究进展

Research progress on non -syndromic cleft lip and/or palate in candidate genes

作者:俞益娜综述 樊立洁审校

Author:Yu Yina, Fan Lijie.

收稿日期:2012-02-07          年卷(期)页码:2012,39(6):760-765

期刊名称:国际口腔医学杂志

Journal Name:International Journal of Stomatology

关键字:唇腭裂,非综合征性,候选基因,位点,

Key words:cleft lip and palate,non-syndromic,candidate genes,site,

基金项目:

中文摘要

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。

英文摘要

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 reductase, 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.

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