β2-肾上腺素能受体基因编码区单核苷酸多态性与中国人群高血压的相关性研究

[Association of single nucleotide polymorphisms in code region of beta2-adrenoceptor gene with hypertension in Chinese population].

作者信息

Wu H, Cai G, Chen H, Xiao J, Huang W, Lu D, Xue J, Jin L

机构信息

Institute of Genetics, Fudan University, Shanghai 200433, China.

出版信息

Zhonghua Nei Ke Za Zhi. 2001 Jan;40(1):22-4.

PMID:11798553

Abstract

OBJECTIVE

To detect single nucleotide polymorphisms(SNPs) existing in code region of beta(2)-adrenoceptor(2-AR) gene and to investigate association of the identified SNPs with essential hypertension in Chinese Han population.

METHODS

Beta(2)-AR gene was sequenced with fluorescent labelling automatic sequencing method in unrelated Chinese Han population from Dabie Mountain 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 (chi(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 beta(2)-AR gene is associated with EH. The SNPs at position + 1053 was not linked to hypertension.

摘要

目的

检测β₂肾上腺素能受体（β₂-AR）基因编码区存在的单核苷酸多态性（SNP），并探讨所鉴定的SNP与中国汉族人群原发性高血压的相关性。

方法

采用荧光标记自动测序法对来自安徽省大别山的无血缘关系的中国汉族人群的β₂-AR基因进行测序。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对SNP的基因型进行分型。

结果

在774bp长度中鉴定出两个SNP，分别位于+1053位，发生G→C替换；位于+1239位，发生A→G替换。两个SNP的基因型频率在正常组中符合哈迪-温伯格平衡。高血压组中+1239位点SNP的基因型AA、GA、GG分布与正常组有显著差异（χ² = 6.70，自由度 = 2，P < 0.05）。两组间+1053位点SNP的基因型分布无显著差异。