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目的 探讨内皮型一氧化氮合酶(endothelial nitric oxide synthase, 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)的多态性现象与妊高征的相关性。 方法 应用PCR检测妊高征患者和健康孕妇的eNOS基因第4 内含子多态性,并采用硝酸还原酶法检测孕妇血浆 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VNTR 4a 等位基因频率在妊高征组明显高于对照组(16. 00%和 7. 50%,χ2 =4.63,P<0.05,比值比(OR)=2.35,95%可信度区间(CI):4.74~23.22);4a/4b+4a/4a基因型频率在妊高征组和对照组分别为 28. 00%和 13. 75% (χ2 = 5.08, P< 0.05, OR= 2. 69, 95%CI: 6. 12 ~35.44),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与妊高征发生密切相关,并可能通过影响NO的产生在其发病机制中起到作用。
Objective To investigate the relationship between the polymorphism of 27bp variable number tandem repeats (VNTR) in intron 4 of endothelial nitric oxide synthase (eNOS) gene and pregnancy-induced hypertension Sex. Methods The polymorphism of intron 4 (eNOS) gene in pregnant women with PIH and healthy pregnant women was detected by PCR. The level of NO3- / NO2- in plasma of pregnant women was detected by nitrate reductase method. The genotype and gene frequency were compared. Results The allele frequency of VNTR 4a in eNOS gene was significantly higher in the PIH group than in the control group (16. 00% and 7. 50%, χ2 = 4.63, P <0.05, OR = 2.35, 95% (CI: 4.74-23.22). The frequencies of 4a / 4b + 4a / 4a genotypes were 28. 00% and 13. 75% in PIH group and control group (χ2 = 5.08, P <0.05, OR = 2.69, 95% CI: 6.12-35.44), the difference was significant. The concentrations of NO3- / NO2- in plasma of patients with 4a / 4b + 4a / 4a genotype were significantly lower than those of 4b / 4b genotype patients (P <0.05). Conclusion The VNTR intron 4 of eNOS gene is closely related to PIH and may play a role in its pathogenesis by affecting the production of NO.