大鼠Hrh1基因的编码区单核苷酸多态性研究

THE cSNP STUDY OF WHOLE CODING SEQUENCE IN RAT Hrh1 STRUCTURAL GENE

目的:对大鼠Hrh1基因编码区进行单核苷酸多态性(SNP)检测及定位。方法:提取健康SD大鼠全血基因组DNA,聚合酶链式反应(PCR)高保真扩增Hrh1基因的编码区(CDS)全长序列,结合DNA测序方法进行cSNP(codingSNP)筛查。结果:在大鼠Hrh1CDS全长1461bp中,共有4个cSNP位点,分别为:①237位C/T多态;②928位A/G多态;③1041位C/T多态;④1342位A/G多态。其中928位、1342位为非同义cSNP,237位、1041位为同义cSNP。结论:大鼠Hrh1基因编码区内4个cSNP位点中928位A/G多态与1342位A/G多态引起的错义突变,可造成编码氨基酸多肽链一级结构的改变,从而可能影响受体蛋白的特性和功能。大鼠Hrh1928cSNP与1342cSNP可能导致大鼠Hrh1基因遗传多态性,表现出Hrh1受体活性的个体差异。

Objective. To detect and locate the single nucleotide polymorphism（SNP） in coding sequence of rat Hrh1 structural gene. Methods. Genomic DNA from whole blood of healthy SD rat was extracted. Highfidelity PCR cloned the entire coding sequence of Hrh1 structural gene, then combined DNA sequencing to screen cSNPs. Results. We found 4 cSNPs in whole coding sequence of rat Hrh1 gene. ①237 C/T, ②928 A/G, ③1 041 C/T, and ④1 342 A/G. Furthermore, 928 cSNP and 1 342 cSNP are non-synonymous cSNP; 237 cSNP and 1 041 cSNP are synonymous cSNP. Conclusions.928 cSNP and 1 342 cSNP of rat Hrh1 gene can result in missense mutation, alter the primary structure of polypeptide chain by changing coded-amino acid, consequently, influence the characteristic and function of receptor protein. Furthermore, 928 cSNP and 1 342 cSNP may induce genetic polymorphism of rat Hrh1 gene, represent individual differences in Hrh1 activity.