β_2-肾上腺素能受体基因编码区+1053位和+1239位单核苷酸多态性与高血压的关系

Association of single nucleotide polymorphisms in code region of β_2 adrenoceptor gene with hypertension in Chinese population

目的 检测 β2 肾上腺素能受体 (β2 AR)基因编码区部分序列单核苷酸多态性 (SNPs) ,并探讨这些SNPs与中国汉族人群原发性高血压的关系。方法 应用荧光标记自动测序法测定β2 AR基因编码区序列 ,确定SNP位置及类型 ,并通过聚合酶链反应 RFLP法进行SNPs基因分型。结果 编码区 410bp长度范围内共检出 2个SNPs,分别为 + 10 5 3位G→C、+ 12 39位A→G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 + 12 39位SNPs基因型AA、GA、GG频率在正常血压和高血压人群间的分布差异有显著性 (χ2 =6 70 ,df=2 ,P <0 0 5 ) ,位于 + 10 5 3bp处SNPs基因型在 2组人群中分布差异无显著性 (χ2 =0 6 3,df=2 ,P >0 0 5 )。结论 β2 AR基因 + 12 39位SNPs与EH相关联 ,+ 10 5

Objective To detect single nucleotide polymorphisms(SNPs) existing in code region of β 2 adrenoceptor(2 AR) gene and to investigate association of the identified SNPs with essential hypertension in Chinese Han population Methods β 2 AR gene was sequenced with fluorescent labelling automatic sequencing method in unrelated Chinese Han population from Dabie Mountaion in Anhui Province Genotype of the SNPs were typed with PCR RFLP method Results Two SNPs were identified in length of 774bp, at position +1053 with G→C substitution and +1239 with A→G substitution respectively The frequency of genotype of the two SNPs complied well with the Hardy Weinberg equilibrium in normal group Distribution of genotype AA, GA, GG of the SNPs at locus +1239 in hypertension group was significantly different from that in normal group(χ 2=6 70, df=2, P <0 05) No significant difference was observed in distribution of genotypes of the SNPs at locus +1053 between the two groups Conclusion These results indicate that the SNPs at locus +1239 of β 2 AR gene is associated with EH The SNPs at position +1053 was not linked to hypertension