血栓前状态相关基因检测在预测不良妊娠中的价值  

Value of detection of related genes of prethrombotic state in predicting adverse pregnancy

作　　者：沈晔[1] 钱芳波[1] 尹婷婷[1] SHEN Ye;QIAN Fangbo;YIN Tingting(Department of Family Planning,Wuxi City Maternal and Child Health Care Hospital in Jiangsu Province,Wuxi,Jiangsu,214000)

机构地区：[1]江苏省无锡市妇幼保健院计划生育科,江苏无锡214000

出　　处：《实用临床医药杂志》2020年第20期58-60,共3页Journal of Clinical Medicine in Practice

基　　金：江苏省妇幼健康重点学科资助项目(FXK2017)。

摘　　要：目的探讨血栓前状态(PTS)相关基因检测在预测不良妊娠中的价值。方法选取发生过不良妊娠结局的女性患者154例,采用聚合酶链式反应(PCR)和毛细管电泳测序方法分析凝血因子Ⅴ(FⅤ)基因、凝血因子Ⅱ(FⅡ)基因、纤溶酶原激活剂抑制物-1(PAI-1)5G/4G、亚甲基四氢叶酸还原酶(MTHFR)基因677位点基因型、MTHFR基因1298位点基因型和甲硫氨酸合成还原酶(MTRR)突变位点。对妊娠结局进行后续跟踪,分析不同基因多态性发生的频率。结果检测结果显示,PTS低风险者18例,中风险者91例,高风险者45例。本研究发现FⅤ基因1691位点基因型及FⅡ基因20210位点基因型均为GG,而风险等级与FⅤ、FⅡ基因型无相关性,与民族、年龄也无相关性,而与胎停史有相关性。随着风险等级的升高,有胎停史患者、PAI-1基因-675位点基因型5G/5G、MTHFR基因677位点基因型TT的比率逐渐增高。以中风险和高风险患者例数计算PTS阳性率,结果为88.31%,与自然流产及复发性流产有显著相关性(P<0.01)。结论早期自然流产和复发性流产与PTS基因突变密切相关。Objective To explore the value of detection of related genes of prethrombotic state(PTS)in predicting adverse pregnancy.Methods Totally 154 female patients with history of adverse pregnancy outcomes were selected.Polymerase chain reaction(PCR)and capillary electrophoresis(CE)sequencing method were used to analyze coagulation factorⅤ(FⅤ),coagulation factorⅡ(FⅡ),plasminogen activator inhibitor-1(PAI-1)5G/4G,methylenetetrahydrofolate reductase(MTHFR)677 genotype,MTHFR 1298 genotype and mutation sites of methionine synthetic reductase(MTRR).The pregnancy outcome was followed up to analyze the frequency of different gene polymorphisms.Results The results showed that there were 18 cases with low risk,91 cases with medium risk and 45 cases with high risk.In this study,we found that the genotype of FⅤgene 1691 and genotype of FⅡgene 20210 were GG,but the risk level had no correlation with FⅤand FⅡgenotypes,nationality and age,but had correlation with the history of fetal arrest.With the increase of risk level,the ratios of cases with the history of fetal arrest,PAI-1 gene-675 genotype 5G/5G and MTHFR gene 677 genotype TT increased gradually.Calculated by the number of patients with moderate and high risks,the positive rate of PTS was 88.31%,which was significantly correlated with spontaneous abortion and recurrent abortion(P<0.01).Conclusion Early spontaneous abortion and recurrent abortion are closely related to PTS gene mutation.

关 键 词：血栓前状态 亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 纤溶酶原激活物抑制剂-1 凝血因子Ⅱ 凝血因子Ⅴ 

分 类 号：R714.5[医药卫生—妇产科学]