凝血因子Ⅻ基因C46T多态性与不明原因复发性流产及凝血因子Ⅻ活性的相关性
投稿时间:2017-01-09  修订日期:2017-02-21  点此下载全文
引用本文:章艳,刘杨,饶慧,张玲云.凝血因子Ⅻ基因C46T多态性与不明原因复发性流产及凝血因子Ⅻ活性的相关性[J].医学研究杂志,2018,47(5):169-173
DOI: 10.11969/j.issn.1673-548X.2018.05.041
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作者单位E-mail
章艳 311300 临安市人民医院妇产科 zy13868087969@163.com 
刘杨 311300 临安市人民医院妇产科  
饶慧 311300 临安市人民医院妇产科  
张玲云 310006 杭州市第一人民医院妇产科  
中文摘要:目的 探讨研究凝血因子Ⅻ(FⅫ)基因第46位核苷酸位点(C46T)的多态性和不明原因复发性流产之间的关系以及FⅫC46T多态性与FⅫ活性的相关性。方法 以2013年5月~2016年5月期间笔者医院收治的210例不明原因复发性流产患者作为研究组,另随机选择105例无不良妊娠史的健康孕妇作为对照组,采用突变分离聚合酶链反应技术(MSPCR)方法检测所有研究对象的FⅫC46T基因多态性,同时检测凝血酶原时间、纤维蛋白原、凝血因子Ⅻ、活化部分凝血酶时间、血管性血友病因子、D-二聚体、纤溶酶原活性和抗凝血酶活性等指标,比较两组女性间基因型和等位基因频率,分析其与凝血因子Ⅻ活性之间的关系。结果 研究组女性凝血因子Ⅻ基因C46T基因型分别为CC型、CT型和TT型的概率为2.38%、41.90%、55.71%,对照组女性凝血因子Ⅻ基因C46T基因型分别为CC型、CT型和TT型的概率为1.90%、28.57%、69.52%,组间比较差异有统计学意义(χ2=7.13,P=0.03)。研究组女性等位基因为C和T的概率分别为23.33%、76.67%,对照组女性等位基因为C和T的概率分别为16.19%、83.81%,组间比较分析差异有统计学意义(χ2=4.31,P=0.04)。两组女性基因型构成和等位基因频率之间比较,差异有统计学意义(P<0.05)。研究组女性的CT基因型明显高于对照组,TT基因型明显低于对照组(χ2=6.854,OR=1.832,95%CI:1.205~2.943,P<0.05)。研究组女性凝血因子Ⅻ基因C46T中T等位基因的频率明显低于对照组(χ2=4.310,OR=1.455,95%CI:1.054~2.213,P<0.05)。研究组女性FⅫ:C在不同基因型(CC、CT、TT)之间比较,差异有统计学意义(P<0.05),趋势为TT型最低,其次为CT型,CC型最高。结论 不明原因复发性流产凝血因子Ⅻ基因C46T多态性为T等位基因时其凝血因子Ⅻ活性更低,凝血因子Ⅻ基因C46T的基因型为CT型时可能与不明原因复发性流产的发生有关。
中文关键词:凝血因子Ⅻ  不明原因复发性流产  基因多态性
 
Association between the C46T Polymorphism of Coagulation FactorⅫ Gene and the Involvement of FactorⅫ Activity in Patients with Unexplained Recurrent Spontaneous Abortion
Abstract:Objective To study the relationship between the C46T polymorphism of coagulation factorⅫ (FⅫ) gene and recurrent spontaneous abortion of unexplained recurrent spontaneous abortion(URSA) and the correlation between FⅫ C46T polymorphism and FⅫ activity.Methods From May 2013 to May 2016, 210 patients with recurrent spontaneous abortion of unknown origin were selected as the study group. 105 healthy pregnant women without history of infertility or miscarriage were randomly selected as the control group. Mutagenically separated polymerase chain reaction assay (MSPCR) was used to detect the FⅫ genetype. The levels of prothrombin time, fibrinogen, FⅫ:C, activated partial thrombin time, von Willebrand factor, D-dimer, plasminogen activity and antithrombin activity were measured. The genotype and allele frequencies were compared between the two groups of women, and the relationship between them and coagulation factor Ⅻ activity were analyzed.Results The CC, CT, TT genotypes of the FⅫ were 2.38%, 41.90%, 55.71% in the study group versus 1.90%, 28.57%, 69.52% in the control group. There was significant difference between the two groups (χ2=7.13, P=0.03). The probabilities of allele C and T were 23.33% and 76.67% in the study group and 16.19% and 83.81% in the control group, respectively. The difference between the two groups was statistically significant (χ2=4.31, P=0.04). There were significant differences in genotype and allele frequency between the two groups (P<0.05).The CT genotype was significantly higher in the study group of women than the control group, TT genotype was significantly lower than the control group (χ2=6.854, OR=1.832, 95% CI:1.205-2.943, P<0.05). The frequency of allele Tin the study group was significantly lower than that in the control group (χ2=4.310, OR=1.455, 95% CI:1.054-2.213, P<0.05). There was a significant difference (P<0.05) among the genotype (CC, CT, TT) in the study group, and TT type was the lowest, followed by CT type and CC type.Conclusion When the C46T of coagulation factor Ⅻ gene in unexplained recurrent spontaneous abortion is alleleT, the coagulation factor Ⅻ activity is lower. The CT genotype of C46T gene may be associated with unexplained recurrent spontaneous abortion.
keywords:Coagulation factor Ⅻ  Unexplained recurrent spontaneous abortion  Gene polymorphism
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