高血压患者β₂-肾上腺素能受体基因5'-调控区单核苷酸多态性分布的研究

[Study on distribution of single nucleotide polymorphism in 5'-regulatory region of beta(2)-adrenoceptor gene in hypertensives].

作者信息

Wu H, Xiao J, Cai G

机构信息

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

出版信息

Zhonghua Yi Xue Za Zhi. 2001 Jan 10;81(1):23-6.

PMID:11798846

Abstract

OBJECTIVE

To detect single nucleotide polymorphisms (SNP) existing in 5'-regulatory region of beta(2)-adrenoceptor (beta(2)-AR) gene and to investigate their associations with hypertension.

METHODS

beta(2)-AR gene was sequenced by fluorescent labeling automatic sequencing method in unrelated Chinese Han population distributed in Dabie Mountain in Anhui Province. Genotypes of the SNP were typed by PCR-RFLP method.

RESULTS

Two SNP of 1.3 kb long were identified at position 1023 and 654 respectively. They were both G-->A substitution. The frequency of genotype of the two SNP complied well with the Hardy-Weinberg equilibrium. The distribution of the SNP genotype AA, GA and GG at position 1023 in the severe hypertension group was significantly different from that in normal group (chi(2) = 9.53, df = 2, P < 0.01), AA frequency is significantly higher in the severe hypertension group than in the normal group (chi(2) = 9.21, df = 1, P < 0.01).

CONCLUSION

The SNP at locus 1023 of human beta(2)-AR gene is associated with severe hypertension in Chinese Han population.

摘要

目的

检测β₂肾上腺素能受体（β₂-AR）基因5′调控区存在的单核苷酸多态性（SNP），并探讨其与高血压的关系。

方法

采用荧光标记自动测序法对安徽省大别山区无血缘关系的中国汉族人群的β₂-AR基因进行测序。通过聚合酶链反应-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

分别在1023位和654位鉴定出两个长度为1.3 kb的SNP。二者均为G→A替换。这两个SNP的基因型频率均符合Hardy-Weinberg平衡。重度高血压组1023位SNP的基因型AA、GA和GG的分布与正常组有显著差异（χ² = 9.53，自由度 = 2，P < 0.01），重度高血压组的AA频率显著高于正常组（χ² = 9.21，自由度 = 1，P < 0.01）。