非综合征型唇腭裂致病基因及早期诊断研究进展

doi:10.13591/j.cnki.kqyx.2023.08.017

摘要/Abstract

摘要：

唇腭裂(cleft lip and palate,CLP)是最为普遍的先天性出生缺陷之一,在不同地区和不同人群中患病率有一定的差异性,男性患病率略高,发病机制复杂,还有待持续深入研究,目前观点认为遗传和环境因素的共同作用是导致其发病的主要原因。本文就非综合征型唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的相关基因学的研究方法、致病基因、基因与WNT信号通路之间的关联性、基因与环境因素交互作用及早期产前诊断方面,总结了近几年NSCL/P研究进展,为进一步研究NSCL/P病因及预防提供参考。

关键词: 非综合征型唇腭裂, 致病基因, 信号通路, 生物标记物

Abstract:

Cleft lip and palate (CLP) is one of the most common congenital birth defects. The prevalence of CLP varies among different regions and different populations. The prevalence of CLP is slightly higher in males, and the pathogenesis is complex and still needs in-depth research. The current view is that the combined effect of genetic and environmental factors is the main cause of CLP. In this paper, the research progress of NSCL/P in recent years was summarized in terms of the research methods, pathogenic genes, the correlation between genes and WNT signaling pathways, the interaction between genes and environmental factors, and the early prenatal diagnosis of NSCL/P, so as to provide reference for further research on the etiology and prevention of NSCL/P.

Key words: non-syndromic cleft lip and palate, pathogenic gene, signaling pathway, biomarker

中图分类号:

地丽拜尔·依明江, 多力昆·吾甫尔. 非综合征型唇腭裂致病基因及早期诊断研究进展[J]. 口腔医学, 2023, 43(8): 757-762.

Dilibaier·YIMINGJIANG , Duolikun·WUFUER . Recent research progress of pathogenic gene and diagnosis of non-syndromic cleft lip and palate[J]. Stomatology, 2023, 43(8): 757-762.

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