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中华口腔医学研究杂志(电子版) ›› 2014, Vol. 8 ›› Issue (04) : 341 -345. doi: 10.3877/cma.j.issn.1674-1366.2014.04.017

综述

非综合征性唇腭裂候选基因和位点研究进展
陈丁莉1, 李守霞1,(), 要跟东1   
  1. 1.056001 邯郸市中心医院检验科
  • 收稿日期:2014-03-05 出版日期:2014-08-01
  • 通信作者: 李守霞

Candidate gene and loci involved in nonsyndromic cleft lip with or without cleft palate

Dingli Chen1, Shouxia Li1,(), Gendong Yao1   

  1. 1.Department of Laboratory Medicine, Central Hospital of Handan City, Handan 056001, China
  • Received:2014-03-05 Published:2014-08-01
  • Corresponding author: Shouxia Li
引用本文:

陈丁莉, 李守霞, 要跟东. 非综合征性唇腭裂候选基因和位点研究进展[J/OL]. 中华口腔医学研究杂志(电子版), 2014, 8(04): 341-345.

Dingli Chen, Shouxia Li, Gendong Yao. Candidate gene and loci involved in nonsyndromic cleft lip with or without cleft palate[J/OL]. Chinese Journal of Stomatological Research(Electronic Edition), 2014, 8(04): 341-345.

先天性唇腭裂是一种常见的出生缺陷,其病因复杂,目前认为是遗传因素和环境因素共同作用的结果。 最常见的是非综合征型唇腭裂(NSCL/P),其发病机制尚无定论。 近来,研究人员采用流行病学分析、详细分型、全基因组关联研究和动物模型的分析相结合,一些新的候选基因和位点已经确定与NSCL/P 有关。 这些发现推进了发育生物的理解,也为临床转化研究创造了新的机遇。

Cleft lip and palate (CL/P) are common birth defects of complex aetiology. The aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently,using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CL/P. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.

表1 与NSCL/P 相关的染色体区域和基因
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