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目的 研究 β_2 肾上腺素能受体 (β_2-adrenoceptor,β_2-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。
Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of β 2 -adrenoceptor (β 2 -AR) gene and essential hypertension (EH) in the elderly. Methods The sequence of 5 ’regulatory region of β2 AR gene was determined by fluorescent-labeled automated sequencing and the single nucleotide polymorphisms (SNPs) and genotypes were determined. PCR-RFLP was used to detect the polymorphisms of β2 AR gene from Anhui Province SNPs genotypes were performed in healthy and EH Han elder populations in the Dabie Mountains. Results Two SNPs were detected within 13kb of the 5 ’regulatory region, both of which were G → A base conversion, located at 102 base pairs (-102 3bp) upstream of the initiation site of the coding region and 65 base (- 6 5 4bp). The genotype frequencies of SNPs in healthy elderly population are in accordance with Hardy Weinberg equilibrium. There was no significant difference in the distribution of genotypes and alleles between 10 2 3 and - 6 5 SNPs in EH group and control group (P 0 05), severe EH group 10 102 SNPs The frequency of AA genotype was 2676% and that of control group was 68%, the difference was significant between the two groups (P <0 05) and A allele frequency (500%) was also significantly higher than Control group (27 91%, P <0 05). Conclusion β2 AR gene - 1023 SNPs may be related to elderly EH, suggesting that β2 AR gene may be susceptibility to EH in the elderly.