【摘要】 目的　研究 β₂ 肾上腺素能受体 （β₂-adrenoceptor,β₂-AR）基因 5’ 调控区单核苷酸多态性（singlenucleotidepolymorphisms ,SNPs）与老年人原发性高血压 （essentialhypertension ,EH）的关系。　方法　应用荧光标记自动测序法测定 β2 AR基因 5’ 调控区序列 ,确定单核苷酸多态位点及类型 ;通过聚合酶链反应 限制性片段长度多态性 （PCR RFLP）法对来自安徽省大别山地区的健康和EH汉族老年人群进行SNPs基因分型。　结果　 5’ 调控区 1 3kb范围内共检出 2个SNPs,均为G→A碱基转换 ,分别位于编码区起始位点上游 10 2 3碱基 （- 10 2 3bp）和 6 5 4碱基 （- 6 5 4bp）。SNPs的基因型频率在健康老年人群分布符合Hardy Weinberg平衡。 - 10 2 3位和 - 6 5 4位SNPs各基因型和等位基因频率在EH组和对照组的分布差异无显著性 （P >0 0 5 ） ,重度EH组 - 10 2 3位SNPs的AA基因型频率为2 6 6 7% ,对照组为 6 98% ,两组相比差异有显著性 （P <0 0 5 ） ,A等位基因频率 （5 0 0 0 % ）也显著高于对照组 （2 7 91% ,P <0 0 5 ）。　结论　β2 AR基因 - 10 2 3位SNPs可能与老年人EH相关 ,提示 β2 AR基因可能是老年人EH的易感基因。更多还原

【Abstract】 Objective To detect single nucleotide polymorphisms (SNPs) existing in 5’ regulatory region of β 2 adrenoceptor(AR) gene and to study the association of these SNPs with essential hypertension in the elderly. Methods β 2 AR gene of unrelated Chinese Han population collected from Dabie Mountain in Anhui Province was detected by fluorescent labeling automatic sequencing. Loci and genotypes of the SNPs were determined by polymerase chain reaction restriction fragmental length polymorphism (PCR RFLP) method. Results Two SNPs were identified within 1 3 kb in length at positions of -1 023 bp and -654 bp, respectively, with both being G→A substitution. The frequency of genotype of the two SNPs complied well with the Hardy Weinberg equilibrium. There was no significant difference in the distribution of the two SNPs genotypes of AA, GA, GG and in the A and G allele frequency between hypertension group and normal group ( P >0 05). The frequency of genotype AA (26 67 %) of the SNPs at position -1 023 bp in severe hypertension group was significantly different from that in normal group(6 98 %, P <0 05). The frequency of allele A (50 00 %) was also significantly higher than that in normal group (27 91 %, P <0 05). Conclusions The SNPs at locus -1 023 bp of human β 2 AR gene is associated with the hypertension in the elderly.更多还原