β_2-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  

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

作　　者：郭清江[1,2] 张金刚[1,2] 盛磊[1,2] 程江[1,2] 段玮[1,2] 

机构地区：[1]石河子大学医学院生物化学和分子生物学教研室,新疆石河子832000 [2]石河子大学医学院一附院检验科,新疆石河子832000

出　　处：《现代生物医学进展》2010年第3期518-520,共3页Progress in Modern Biomedicine

摘　　要：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(x2=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。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.

关 键 词：高血压 Β2-肾上腺素能受体 哈萨克族 

分 类 号：Q75[生物学—分子生物学] R544.1[医药卫生—心血管疾病]