非综合征性唇腭裂候选基因的研究进展
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2012年12月1日
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[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。
[关键词]唇腭裂；非综合征性；候选基因；位点
[中图分类号]Q 786[文献标志码]A[doi]10.3969/j.issn.1673-5749.2012.06.016
Research progress on non -syndromic cleft lip and/or palate in candidate genesYu Yina, Fan Lijie.(Dept. of Oral and Maxillofacial Surgery, The Affiliated Stomatological Hospital of Medical School, Zhejiang University, Hangzhou 310006, China)
[Abstract]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 receptorα, etc ......
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