非综合征性唇腭裂基因多态性的更新

A. Rafik, S. Nadifi
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引用次数: 7

摘要

引言:非综合征性唇腭裂(NSCLP/CP)是世界上最常见的先天性畸形,具有非常重要的心理和社会影响。NSCLP/CP的形成是环境和遗传因素相互作用的结果。本文综述了近年来在确定NSCLP遗传原因方面的进展。方法:通过搜索以下关键词对Medline数据进行文献综述:基因、非综合征性腭裂和腭裂遗传学,直到2018年1月。结果:在不同的人群和国家中发现了不同的基因,研究使用了病例父母三人组。本研究的目的是回顾已在非综合征性唇腭裂中鉴定的相关基因,并有助于更好地了解这种病理的遗传模式和遗传疾病的预防。结论:虽然已经确认了三个主要基因,但有必要进行遗传学研究,以了解腭裂的病理生理学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Updating Genetics Polymorphisms of Non-Syndromic Clefts Lip-Palates
Introduction: Non-Syndromic Clefts Lip-Palates (NSCLP/CP) are most common congenital malformation in the world, with very important psychic and social impact. Formation of NSCLP/CP arises from the interaction of environmental and genetic factors. This paper provides a review of recent progress in defining the genetic causes of NSCLP. Methods: A literature review was conducted on the Medline data by searching for the following keywords: genes, non-syndromic cleft lip-palate, and genetics of clefts lip-palates, until January 2018. Results: Various genes are identified in different population and country, with the study using case parent’s trio. The aim of this study contributes to review relative gene which has been identify in non-syndromic cleft lip and palate, and to help to have a better understanding of the inheritance pattern of this pathology and the prevention of genetic disease. Conclusion: Although three major genes have been confirmed, the genetic research is necessary to provide an understanding of the pathophysiology of the clefts lip-palates.
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