MTHFR基因C677T位点突变与重度子痫前期发生及妊娠结局的关系  

Relationship between mutation of C677T in gene MTHFR and occurrence of severe preeclampsia and pregnancy outcome

作　　者：刘力[1] 张敬蕊 侯晓琳[1] LIU Li;ZHANG Jingrui;HOU Xiaolin(The Fourth Hospital of Shijiazhuang,Shijiazhuang,Hebei 050000,China)

机构地区：[1]石家庄市第四医院,河北石家庄050000

出　　处：《中国优生与遗传杂志》2021年第8期1066-1071,共6页Chinese Journal of Birth Health & Heredity

基　　金：石家庄市科学技术与研究项目(171462113)。

摘　　要：目的探讨MTHFR基因C677T位点突变与重度子痫前期(severe preeclampsia,SPE)发生及妊娠结局的关系。方法选择2018年6月至2020年5月于我院妇产科就诊的300例重度子痫前患者作为观察组,随机选择同期我院妇产科正常孕妇300例作为对照组。从两组孕妇血液样本中提取DNA,经PCR扩增和Sanger测序测定MTHFR基因C677T位点多态性,观察并记录两组孕妇的妊娠结局,分析MTHFR基因C677T位点多态性与SPE发生及妊娠结局的相关性。结果MTHFR基因C677T位点分别为野生型CC、杂合型CT和纯合型TT。MTHFR C677T位点的三种基因型(CC、CT、TT)在观察组和对照组中分布频率分别为:15.00%vs 45.00%、60.00%vs 42.67%、25.00%vs 12.33%,等位基因(C、T)在观察组和对照组中的分布频率分别为:45.00%vs 66.33%、55.00%vs 33.67%,两组比较差异有统计学意义(χ^(2)=6.851、6.624、7.318,P<0.05)。在三种遗传模式下(CT/CC、TT/CC和T/C)观察组患SPE的风险分别是对照组的4.23倍(95%CI:1.39~12.89)、6倍(95%CI:1.46~24.70)和2.5倍(95%CI:1.27~4.55)。观察组早产、宫缩乏力、新生儿窒息、胎儿宫内窘迫、产后出血及其他发生率均显著高于对照组,差异具有统计学意义(χ^(2)=17.683、20.194、8.791、14.559、16.611、3.097,P<0.05)。观察组MTHFR基因C677T位点中TT基因型的早产、宫缩乏力、新生儿窒息、胎儿宫内窘迫、产后出血及其他发生率最高,CT次之,CC最低,差异具有统计学意义(F=11.578、9.366、12.181、8.710、11.701、8.127,P<0.05),对照组MTHFR基因C677T位点的各基因型的不良妊娠解决发生率比较差异无统计学意义(P>0.05)。MTHFRC677T位点的三种基因型(CC、CT、TT)在不良妊娠结局组和正常妊娠结局组中分布频率分别为:16.67%vs 47.14%、59.44%vs 42.38%、23.88%vs 10.48%,等位基因(C、T)在不良妊娠结局组和正常妊娠结局组中的分布频率分别为:46.39%vs 68.33%、53.61%vs 31.67%,两组比较差异有统计学意义(χ^(2)=6.518、6Objective To explore the relationship between MTHFR gene C677 T mutation and occurrence of severe preeclampsia and pregnancy outcome.Methods 300 patients with severe preeclampsia who visited our department of obstetrics and gynecology from June 2018 to May 2020 were selected as the observation group,and 300 normal pregnant women in our department of obstetrics and gynecology during the same period were randomly selected as the control group.DNA was extracted from the blood samples of pregnant women in the two groups,and the polymorphism of MTHFR gene C677 T locus was determined by PCR amplification and Sanger sequencing.The pregnancy outcomes of the two groups were observed and recorded.The correlation between MTHFR gene C677 T locus polymorphism and SPE occurrence and pregnancy outcome was analyzed.Results The C677 T locus of MTHFR gene was wild-type CC,heterozygous CT and pure TT,respectively.MTHFR gene C677 T locus of three genotypes(CC,CT,TT)frequency distribution in the observation group and control group respectively were 15.00%vs 45.00%,60.00%vs 42.67%and 25.00%vs 12.33%.Allele(C,T)in the observation group and control group distribution frequency were 45.00%vs 66.33%,55.00%vs 33.67%.There were significant difference between two groups(χ^(2)=6.851,6.624,7.318,P<0.05).The risks of SPE in the observation group under the three genetic patterns(CT/CC),(TT/CC)and(T/C)were 4.23 times(95%CI:1.39-12.89),6 times(95%CI:1.46-24.70)and 2.5 times(95%CI:1.27-4.55)compared with the control group,respectively.The incidence of preterm labor,uterine weakness,neonatal asphyxia,fetal distress and postpartum hemorrhage in the observation group were significantly higher than those in the control group,and the difference was statistically significant(χ^(2)=17.683,20.194,8.791,14.559,16.611,3.097,P<0.05).In the observation group,the TT genotype of MTHFR gene C677 T locus had the highest incidence of preterm labor,uterine contractions,neonatal asphyxia,fetal distress and postpartum hemorrhage,followed by CT and CC,the difference

关 键 词：MTHFR C677T 位点突变 重度子痫前期 妊娠结局 

分 类 号：R714.244[医药卫生—妇产科学]