【摘要】 目的探讨内皮型一氧化氮合酶(endothelial nitricoxide syehtase,eNos)基因第4内含子27bp可变数目的短片段重复序列(variable number tandem repeats,VNTR)的多态性现象与慢性阻塞性肺部疾病(COPD)肺动脉高压的相关性。方法应用PCR检测COPD肺动脉高压患者和健康对照组的eNos基因第4内含子多态性。并用硝酸还原酶法检测病例组及对照组NO3-/NO2-浓度水平。根据基因型和基因频率分组进行比较。结果eNos基因VNTR4a等位基因频率在病例组明显高于对照组(P=0.027,P<0.05,χ2=4.913,OR=2.23795%CI:1.082~4.622);4a/4b+4a/4a基因频率在病例组和对照组分别为29.51%和14.42%(P=0.019,P<0.05,χ2=5.468,OR=2.48495%CI:1.143~5.396)差异有显著性。各组中的4a/4b+4a/4a基因型患者血浆中NO3-/NO2-浓度分别明显低于各4b/4b基因型患者(P<0.05)。结论eNos基因第4内含子VNTR与COPD肺动脉高压密切相关并可能通过影响NO的产生再发病机制中起作用。更多还原

【Abstract】 Objective To study the variable number tandem repeats(VNTR)polymorphism in intron 4 of the endothelial nitric oxide synthase(eNos)gene and its relationship with plasma NO in patents with PAH of COPD.Methods The VNTR polymorphism in intron 4of the eNos genes of PAH COPD and healthy control were detected by PCR.The plasma level of NO3-/NO2-was measured by spectrophotometer,which was used as an index of NO synthesis.Data were analyzed according to the different genotype and allelic gene frequency.Results The COPD PAH group significant higher frequency of VNTR 4a allele and 4a/4b allele and 4a/4b+4a/4a genotype than those of the control(P=0.027,P<0.05,χ2=4.913,OR=2.237 95%CI:1.082～4.622).The level of NO3-/NO2-in patients of VNTR genotype is lower than that of control genotype(P<0.05).Conclusions The VNTR polymorphism of the eNos gene is associated with COPD PAH and might play a role in PAH genesis by affecting NO production.更多还原