›› 2017, Vol. 8 ›› Issue (1): 32-36.

• 综述 • 上一篇    下一篇

唇腭裂的分子遗传学研究进展

何淼1,边专2   

  1. 1. 武汉大学口腔医学院,口腔基础医学省部共建国家重点实验室培育基地和口腔生物医学教育部重点实验室
    2. 武汉大学口腔医学院
  • 收稿日期:2017-02-28 修回日期:2017-03-08 出版日期:2017-03-25 发布日期:2017-04-11
  • 通讯作者: 边专 E-mail:bianzhuan@whu.edu.cn
  • 基金资助:
    国家自然科学基金;国家重点研发计划

The progress in molecular genetics of orofacial clefting

  • Received:2017-02-28 Revised:2017-03-08 Online:2017-03-25 Published:2017-04-11

摘要: 唇腭裂是人类最常见的颅颌面出生缺陷,是一组在环境因素和遗传因素相互作用下发生的复杂疾病,非综合征型唇腭裂是最常见的类型。虽然已发现一些染色体结构异常和易感基因与唇腭裂发生相关,但其发病的分子遗传机制仍不完全清楚。本文拟就唇腭裂的分子遗传病因学的研究进展作一综述。

Abstract: Orofacial clefts (OFCs) are the commonest craniofacial birth defects in human which are caused by the interaction between environmental and genetic factors. Most OFCs are non-syndromic (NS) cases in which clefting occurs as the only malformation in the affected infant. Although previous studies of linkage and candidate genes, and more recently, several genome-wide association studies (GWAS), have reported multiple candidate genes and chromosomal regions associated with NSOFC, the underlying genetic architecture of this birth defect remains largely unknown. This paper reviewed the progress in molecular genetics of orofacial clefting.