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目的探讨新疆哈萨克族人β2-肾上腺素受体(β2-AR)基因G(-1023)A多态性与原发性高血压的关系。方法用直接测序法对β2-AR基因进行测序,寻找和验证单核苷酸多态性(SNP)在哈萨克族高血压群体中的存在;应用多聚酶链反应、限制性片段长度多态性技术(PCR-RFLP)对新疆哈萨克族人β2-AR基因编码区起始点上游1023(-1023)位点进行基因分型。结果(1)在β2-AR基因调控区-1023位点存在一高频SNP;(2)β2-AR基因-1023位点多态基因型频率在该群体中分布符合Hardy-Weinberg平衡;(3)该位点各基因型频率和等位基因频率在哈萨克族高血压组和正常对照组的分布差异均有统计学意义(P<0.05)。结论β2-AR基因-1023位点多态性可能与新疆哈萨克族人高血压相关。
Objective To investigate the relationship between G (-1023) A polymorphism of β2-adrenoceptor (β2-AR) gene and essential hypertension in Xinjiang Kazak people. Methods The β2-AR gene was sequenced by direct sequencing to find and verify the existence of single nucleotide polymorphism (SNP) in Kazaks hypertension population. Polymerase chain reaction and restriction fragment length polymorphism PCR-RFLP) was used to genotype the 1023 (-1023) site upstream of the start codon of β2-AR gene in Xinjiang Kazak people. Results (1) There was a high frequency SNP at -1023 in the regulatory region of β2-AR gene. (2) The frequency of -1023 locus polymorphism of β2-AR gene in this population was in agreement with Hardy-Weinberg equilibrium. (3) There were significant differences in the distribution of genotype frequency and allele frequency between Kazaks and controls (P <0.05). Conclusion The -1023 polymorphism of β2-AR gene may be related to the Kazakh hypertension in Xinjiang.