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动物实验发现MSX1基因敲除的小鼠表现出腭裂的表型,为MSX1基因与非综合征型唇/腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)之间存在关联性提供了直接证据,此外动物实验表明MSX1基因与环境因素及其他基因之间的交互作用与NSCL/P存在关联。现有人群连锁关联研究的结果并不完全一致,可能是由于现有研究中所分析的MSX1基因位点较少,研究效率较低;也可能与现有研究主要是对MSX1基因进行单位点的分析,未考虑交互作用(包括基因-环境和基因-基因交互作用)有关。在后续的研究中,扩大研究位点的范围,并进行基因-环境和基因-基因交互作用与NSCL/P之间的关联性分析,有可能为阐明MSX1基因与NSCL/P之间的关联提供进一步数据支持。
Animal experiments revealed that MSX1 knockout mice exhibit a phenotype of cleft palate providing an association between the MSX1 gene and non-syndromic cleft lip with or without cleft palate (NSCL / P) In addition, direct evidence shows that the interaction between MSX1 gene and environmental factors and other genes is related to NSCL / P. The results of the current population linkage studies are not exactly the same, probably due to the fewer MSX1 loci analyzed in the current study and the lower efficiency of the study. It may also be related to the existing studies that mainly focus on the MSX1 gene The analysis did not consider interactions (including gene-environment and gene-gene interaction). In subsequent studies, it is possible to elucidate the association between the MSX1 gene and NSCL / P by expanding the range of research sites and conducting a correlation analysis of gene-environment and gene-gene interactions with NSCL / P Further data support.