非综合征型唇腭裂非编码区变异功能研究策略

摘要/Abstract

摘要： 非综合征型唇腭裂是一种常见的先天畸形，其发病机制复杂，常包含遗传和环境两方面的因素。随着全基因组关联研究的广泛开展，针对非综合征型唇腭裂的遗传学研究取得了较为丰硕的成果，发现了大量候选突变位点。但这些突变大多位于易感基因的非编码区域，且仅拥有统计学上的意义，需要后续的功能研究来验证这些突变的真实致病性。目前唇腭裂编码区变异的研究方法已较为成熟，但由于致病机制的差异，该法对研究非编码区变异将不完全适用。因此，本文将从大数据利用、软件功能预测及体内外功能实验三方面对非编码区变异后续功能研究进行介绍，为将来更多唇腭裂非编码区突变研究提供参考。

Abstract: Non-syndromic cleft lip and palate is a common congenital malformation. With the development of genome-wide association research, the genetic research on non-syndromic cleft lip and palate has made a lot of achievements, and a large number of candidate mutation sites have been found. However, most of these mutations are located in the non-coding region of susceptible genes and only have statistical significance. Further functional studies are needed to verify the true pathogenicity of these mutations. At present, the research method of coding region variation of cleft lip and palate has been more mature, but because of the difference of pathogenic mechanism, this method will not be fully applicable to study the variation of non-coding region. Therefore, this paper will introduce the following functional studies of non-coding region mutation from the aspects of big data utilization, software function prediction and functional experiment in vivo and in vitro, and provide reference for more studies on non-coding region mutation of cleft lip and palate in the future.

殷斌石冰贾仲林. 非综合征型唇腭裂非编码区变异功能研究策略[J]. , 2019, 10(1): 37-42.

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