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Ras相关的C3肉毒素底物1(ras-related C3 botulinum toxin substrate 1,Rac1)是Rho GTP酶超家族里Rac亚家族中的一员,是细胞内重要的信号转导分子,参与众多的生理活动并其重要的调控作用。机体内RAC1基因被激活的水平具有个体差异性,因而研究体内RAC1基因的表达水平及其对某种疾病的易感性或者对某类药物的反应具有重要意义。研究RAC1基因的多态性有助于从序列信息预测蛋白质结构,进而理解蛋白质功能,从而能在基因水平上预测疾病发展和实施个体化医疗。本文将就RAC1基因突变及其上单核苷酸多态性与疾病的联系方面介绍相关研究进展。
Ras-related C3 botulinum toxin substrate 1 (Rac1), a member of the Rac subfamily of the Rho GTPase superfamily, is an important intracellular signaling molecule involved in many physiological Activities and its important regulatory role. RAC1 gene activation in the body with individual differences in the level of RAC1 gene in vivo so that the level of expression and its susceptibility to a disease or a type of drug response is of great significance. Studying the polymorphism of the RAC1 gene helps predict protein structure from sequence information and then protein function to predict disease progression and implement personalized medicine at the genetic level. This article will introduce the related research progress on RAC1 gene mutation and its single nucleotide polymorphism and disease.