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目的探讨β2-肾上腺素能受体(Beta2-AR)基因编码区16、27位点基因多态性与慢性阻塞性肺疾病(COPD)合并高血压(EH)的相关性,旨在阐明β2-AR基因多态性对COPD合并EH的发病是否有影响。方法用等位基因特异性聚合酶链反应(AS-PCR)技术检测180例研究对象的β2-AR基因编码区第16、27位点单核苷酸多态性(SNP),其中COPD合并EH组60例、COPD组60例、健康对照组60例。结果本研究的β2-AR基因16、27位点基因型和等位基因频率与以往的研究相比提示了其在不同族群中的分布差异有统计学意义(P<0.05),在本研究人群COPD合并EH组、COPD组和对照组间的分布差异无统计学意义(P>0.05),16位点多态性与FEV1值有统计学意义(P<0.05),ArgGly与GlyGly基因型的患者,其FEV1值低于ArgArg基因型的患者。而27位点多态性与FEV1值之间无统计学意义(P>0.05)。结论β2-AR基因162、7位点基因型多态性的分布在不同族群中存在差异,提示族群对基因突变可能有一定影响。在本研究人群中,Beta2-AR基因16、27位点基因多态性与COPD合并EH的发病可能无相关性,但16位点的基因多态性与肺功能可能有关。
Objective To investigate the relationship between polymorphisms of β2-adrenergic receptor (Beta2-AR) gene coding region 16,27 and chronic obstructive pulmonary disease (COPD) and hypertension (EH) AR gene polymorphism in COPD with EH whether the impact of the incidence. Methods SNPs in the coding region of β2-AR gene in 180 subjects were detected by allele-specific polymerase chain reaction (AS-PCR). COPD combined with EH 60 cases in COPD group, 60 cases in COPD group and 60 cases in healthy control group. Results The frequencies of genotypes and alleles at 16 and 27 sites of β2-AR gene in this study suggested that there was significant difference (P <0.05) in the distribution among different groups compared with the previous study. In the study population There were no significant differences in the distribution of COPD patients between EH group, COPD group and control group (P> 0.05), 16-site polymorphism and FEV1 (P <0.05). The patients with ArgGly and GlyGly genotype , Patients with lower FEV1 values than the ArgArg genotype. However, there was no significant difference between the 27-locus polymorphism and FEV1 (P> 0.05). Conclusion The polymorphism distributions of 162 and 7 loci of β2-AR gene are different in different ethnic groups, suggesting that ethnic groups may have some impact on gene mutation. In our study population, polymorphism of Beta2-AR gene at 16,27 locus and COPD with EH may not be related, but gene polymorphism at 16 locus may be related to lung function.