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目的探讨内皮型一氧化氮合酶(endothelial nitricoxide synthase,eNOS)基因第7外显子G894T突变和N5,N10-亚甲基四氢叶酸还原酶(methyenetetrahydrofolate reductase,MTHFR)基因C677T突变与潍坊地区汉族人妊娠高血压综合征(妊高征)发病的关系。方法应用PCR-RFLP方法,对92例妊高征患者(妊高征组)和89例正常妊娠妇女(对照组)的eNOS基因G894T突变和MTHFR基因C677T突变进行检测。结果妊高征组eNOS基因Glu/Glu、Glu/Asp、Asp/Asp基因型频率分别为71.7%、28.3%、0.0%,MTHFR基因CC、CT、TT基因型频率分别为21.8%、40.2%、38.0%。妊高征患者MTHFR基因TT基因型频率(38.0%)显著高于对照组(18.0%)(P<0.05),而CT基因型频率妊高征组(40.2%)显著低于对照组(61.8%)(P<0.05),携带TT基因型个体发生妊高征的风险增加2.80倍。eNOS基因型和等位基因频率两组比较差异均无显著性(P>0.05)。结论MTHFR基因TT基因型能增加妊高征的患病风险,eNOS基因G894T突变与妊高征发病无关。
Objective To investigate the mutations of G894T mutation in exon 7 of endothelial nitric oxide synthase (eNOS) gene and C677T mutation of N5 and N10-MTHFR gene in Han population of Weifang region Relationship between pregnancy induced hypertension syndrome (PIH). Methods The eNOS gene G894T mutation and MTHFR gene C677T mutation in 92 patients with PIH and 89 normal pregnant women (control group) were detected by PCR-RFLP. Results The frequency of genotypes of Glu, Glu, Glu / Asp, Asp / Asp in PIH group were 71.7%, 28.3% and 0.0%, respectively. The frequencies of MTHFR gene CC, CT and TT genotypes were 21.8% and 40.2% 38.0%. The frequency of TT genotype of MTHFR gene in PIH patients was significantly higher than that in control group (38.0% vs 18.0%, P <0.05), while frequency of CT genotype was significantly lower in PIH group (40.2% vs 61.8% ) (P <0.05). The risk of PIH in individuals with TT genotype increased by 2.80-fold. There was no significant difference in eNOS genotype and allele frequencies between the two groups (P> 0.05). Conclusion TT genotype of MTHFR gene can increase the prevalence of PIH. The mutation of eNOS gene G894T has no relation with the incidence of PIH.