外周血凝血指标、MTHFR和MTRR基因多态性在易栓症反复自然流产中的诊断价值  

Diagnostic value of peripheral blood coagulation index and MTHFR and MTRR gene polymorphism in recurrent spontaneous abortion with thromboembolism

作　　者：高翔[1] 朱云霞[1] 孟君[1] 张双霞 熊霞鹂 张志红 马晓鹏[1] 王金花 GAO Xiang;ZHU Yun-xia;MENG Jun;ZHANG Shuang-xia;XIONG Xia-li;ZHANG Zhi-hong;MA Xiao-peng;WANG Jin-hua(Department of Obstetrical,Beijing Youan Hospital,Capital Medical University,Beijing 100069,China)

机构地区：[1]首都医科大学附属北京佑安医院产科,北京100069

出　　处：《川北医学院学报》2023年第5期648-651,共4页Journal of North Sichuan Medical College

基　　金：白求恩·生育调控与优生研究计划项目(2021-012)。

摘　　要：目的:探究外周血凝血指标、亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)的基因多态性在易栓症反复自然流产中的诊断价值。方法:选取流产次数≥2次的自然流产的非妊娠妇女为观察组(n=98);同期进行孕前检查的健康非妊娠妇女作为对照组(n=80)。提取两组妇女血样DNA,采用荧光定量PCR法检测其MTHFR、MTRR基因位点,同时检测记录外周血D-二聚体(D-D)水平、凝血酶原时间(PT)、凝血酶时间(TT)、凝血活酶时间(aPTT)。结果:两组对象年龄、民族、居住地、人工助孕史及体质量指数(BMI)、外周血TT、PT、aPTT水平等一般资料比较,差异均无统计学意义(P>0.05),观察组血浆D-D浓度高于对照组(P<0.05)。两组MTHFR A1298C、MTHFR C677T、MTRR A66G基因分布符合Hardy-Weinberg平衡定律,同时两组MTHFR A1298C基因型(A/C)、MTRR A66G基因型(A/G)比较,差异均无统计学意义(P>0.05),观察组MTHFR C677T等位基因T及TT基因型占比均高于对照组(P<0.05)。Logistic分析结果显示,血浆D-D、MTHFR C677T位点的TT基因型为易栓症反复自然流产的影响因素(P<0.05)。结论:易栓症反复自然流产患者血清凝血指标D-D异常升高,同时MTHFR C677T位点以TT型较为常见,对易栓症反复自然流产的早期诊断具有一定应用价值。Objective:To explore the diagnostic value of peripheral blood coagulation index and methylene tetrahydrofolate reductase(MTHFR)and methionate synzyme reductase(MTRR)gene polymorphism in recurrent spontaneous abortion with thromboembolism.Methods:98 non-pregnant women with spontaneous abortion≥2 times were included as study subjects and counted as observation group.In addition,80 healthy non-pregnant women who underwent pre-pregnancy examination during the same period were selected as the control group.Extract DNA from two groups of women s blood samples,use fluorescence quantitative PCR to detect their MTHFR and MTRR gene loci,and record peripheral blood D-dimer(D-D)levels,prothrombin time(PT),thrombin time(TT),and thrombin time(aPTT).Results:There were no difference between the two groups in age,nationality,residence,artificial pregnancy history and body mass index(BMI),and TT,PT and aPTT in peripheral blood(P>0.05).The plasma D-D concentration in the observation group was higher than that in the control group(P<0.05).The distribution of MTHFR A1298C,MTHFR C677T and MTRR A66G genes in the two groups conformed to Hardy-Weinberg equilibrium law.At the same time,there was no significant difference in the MTHFR A1298C genotype(A/C)and MTRR A66G genotype(A/G)between the two groups(P>0.05).The proportion of MTHFR C677T allele T and TT genotype in the observation group was higher than that in the control group(P<0.05).Logistic analysis showed that the TT genotype of D-D and MTHFR C677T sites in plasma was an influential factor for recurrent spontaneous abortion in thrombolytic disease(P<0.05).Conclusion:Serum clotting index D-D is abnormally elevated in patients with recurrent spontaneous abortion with thrombolism,and TT type of MTHFR C677T site is more common,which has certain application value for early diagnosis of recurrent spontaneous abortion with thrombolism.

关 键 词：易栓症 反复自然流产 MTHFR和MTRR基因多态性 D-二聚体 诊断价值 

分 类 号：R714.2[医药卫生—妇产科学]