高血压病患者β_2-肾上腺素能受体基因编码区三个单核苷酸多态性研究

Single nucleotide polymorphism in code region of β_2-adrenoceptor gene and the association with hypertension in Chinese population from area of Dabie Mountain

目的 检测 β2 肾上腺素能受体 ( β2 adrenoceptor ,β2 AR)基因编码区部分序列单核苷酸多态性 (singlenucleotidepolymorphism ,SNP) ,并探讨这些SNP与中国大别山区汉族人群高血压病(essentialhypertension ,EH)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 ;通过PCR RFLP法对正常血压和EH人群进行SNP基因分型。结果 1175bp范围内共发现 3个SNP ,分别为 + 4 6位A→G、+ 2 5 2位G→A、+ 5 2 3位C→T碱基多态 ,其中 + 4 6位碱基变异导致所编码的第 16位氨基酸由精氨酸变为甘氨酸。 + 2 5 2位SNP各基因型AA、GA、GG频率在正常血压和EH人群中的分布有显著性差异 ( χ2 =6.0 2 ,P <0 .0 5 ) ,位于 + 4 6bp和 + 5 2 3bp处的SNP各基因型在两组人群中的分布差异无显著性。结论 β2 AR基因 + 2 5 2位SNP与大别山区人群EH相关 ,+ 4 6和 + 5 2 3位SNP可能仅是基因多态性标志。

Objective To detect single nucleotide polymorphisms(SNPs) existing in code region ofβ 2-adrenoceptor (β 2-AR)gene and to investigate the association of these SNPs with EH in Chinese Han population collected from Dabie Mountain in Anhui Province. Methods β 2-AR gene was sequenced by fluorescent labeling automatic sequencing method in unrelated Chinese Han population. Genotype of the SNPs were determined by PCR-RFLP method. Results Three SNPs were identified in length of 1?175 bp, at position +46,+252 and +523 with A→G, G→A, C→T substitution respectively. The distribution frequency of the SNP genotype AA, GA, GG at position +252 in hypertension group was significantly different from that in normal group(χ2 =6.02, P< 0.05). No significant difference was observed in distribution frequency of the other two SNP genotypes between the two groups. Conclusion The SNP at locus +252 of human β 2-AR gene is associated with hypertension. SNPs at position +46 and +523 are not linked to hypertension in Chinese Han population from area of Dabie Mountain.