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目的α2A-AR基因的精确表达对于运动病易感性、维持注意力分配、空间定向、学习和记忆功能非常重要,因此对该基因启动子区域单核苷酸多态性(single nucleotide polymorphisms,SNPs)位点的功能意义及其保守性进行研究。方法采用生物信息学分析法对目前已报道的位于ADRA2A启动子区域的10个SNPs(S1～S10)进行分析。结果 S1、S3、S5和S8等位基因频率没有人种差异性。其余SNPs等位基因频率均有人种差异性;接近核心启动子SNPs的保守性高于远离核心启动子SNPs的保守性,提示位于核心启动子区域附近的SNPs影响α2A-AR基因表达的概率更大;大部分SNPs位点始祖等位基因是保守性的(S6除外),提示上述SNPs位点新生等位基因可能在人类进化过程起到作用;启动子软件分析得出,含S2、S5、S6、S7、S8、S9、S10等7个SNPs不同等位基因序列存在不同转录因子结合元件。含S1和S4不同等位基因的同一序列都只能预测到含其中一个等位基因的序列存在转录因子结合元件,而含S3序列没有预测到转录因子结合元件,提示不同等位基因转录结合位点存在差异性。结论上述差异可能是SNPs影响ADRA2A表达的重要原因之一,这些分析将为进一步研究ADRA2A启动子区域SNPs与运动病易感性、空间定向能力、注意力分配以及学习、记忆能力的关联性提供理论依据。
Objectives Accurate expression of the α2A-AR gene is important for the susceptibility of motion sickness, maintenance of attentional effort, spatial orientation, learning and memory, and therefore the single nucleotide polymorphisms (SNPs) Site functional significance and its conservation research. Methods Bioinformatics analysis was used to analyze 10 SNPs (S1 ~ S10) in the ADRA2A promoter region. Results There were no racial differences in the frequency of alleles S1, S3, S5 and S8. The SNPs of the other SNPs were heterogeneous. The SNPs close to the core promoter were more conservative than the SNPs away from the core promoter, suggesting that the SNPs located near the core promoter had a greater probability of affecting the expression of the α2A-AR gene ; Most of the alleles of the ancestral SNPs SNPs (except S6), suggesting that SNPs loci new allele may play a role in human evolution; promoter software analysis, including S2, S5, S6 , S7, S8, S9, S10 and other seven SNPs different allele sequences exist different transcription factor binding elements. The same sequence containing different alleles of S1 and S4 can only predict the presence of transcription factor binding elements in the sequence containing one of the alleles, while the transcription factor binding element is not predicted in the sequence containing S3, suggesting that different allele transcription binding sites There are differences in points. Conclusion The above differences may be one of the important reasons that SNPs affect the expression of ADRA2A. These analyzes will provide a theoretical basis for further studying the association between SNPs in ADRA2A promoter and motion sickness, spatial orientation, attention distribution and learning and memory ability .