β2-AR基因5’-调控区-654位与-1429位单核苷酸多态性与新疆哈萨克族原发性高血压关系的研究

目的：检测β2-肾上腺素能受体（β2-AR）基因5’-调控区部分序列单核苷酸多态性（SNPs）,并探讨这些SNPs与新疆哈萨克族原发性高血压的关系。方法：应用MALDI-TOFMS方法测定β2-AR基因5’-调控区-654位与-1429位单核苷酸多态性确定SNP类型,并进行基因分型。结果：β2-AR基因5’-调控区-654位与-1429位单核苷酸多态性分别为-654位G→A、-1429位T→A碱基变异。2种SNPs基因型频率在正常人群分布符合Hardy-Weinberg平衡。其中-654位SNPs基因型GG、GA、AA频率在正常血压和高血压人群间的分布没有显著性差异（x2=1.26,df=2,P〉0.05）,位于-1429bp处SNPs基因型在2组人群中分布差异无显著性（x^2=1.85,df=2,P〉0.05）。结论：β2-AR基因-654位与-1429位SNPs可能仅为基因多态性标志。

Association between the position-654G/A and-1429T/A single nucleotide polymorphisms （SNP） existing in 5′-regulatory region of β2-adrenoceptor （β2-AR） gene and risk of essential hypertension in Kazakns of Xinjiang

Objective：To detect single nucleotidepolymorphisms （SNPs） existing in 5′-regulatory region of β2-adrenoceptor （β2-AR） gene and to investigate association of the identified SNPs with essential hypertension in Kazakns of Xinjiang Methods：Single nucleotidepolymorphisms （SNPs） at the position of-654G/A and-1429T/A of β2-AR gene was detected by MALDI-TOF MS. Genotypes of the SNP were detected by MassARRAY iPLEXTM method. Results：Two SNPs were identified at position-654 with G→A substitution and-1429with T→A substitution. The frequency of genotype of the two SNPs complied well with the Hardy-Weinberg equilibrium in normal group. There was no significantly different for distribution of genotype AA,GA,GG of the SNPs at locus-654 between the hypertension group and normal group （x^2 = 1.26 df =2 , P〉0.05）. And there was no significant difference for distribution of genotypes of the SNPs at locus-1429 between the two groups Conclusion：These results indicated that the SNPs at locus-654 and-1429 of β2-AR gene had not relationship with Hypertension.