基因多态性与复发性流产

doi:10.12280/gjfckx.20220432

摘要/Abstract

摘要：

复发性流产的病因复杂，涉及染色体、免疫、内分泌、生殖道微环境等多个方面。随着复发性流产的病因研究不断深入，基因多态性对复发性流产的影响逐渐受到广泛关注。叶酸是DNA合成的重要原料，在代谢过程中关键酶基因多态性的改变会导致叶酸合成减少以及高同型半胱氨酸血症，使复发性流产的发生风险增高。此外，细胞因子及相关受体、性激素及相关受体以及血栓形成因素的相关基因发生基因多态性改变时，都会引起相应产物水平的升高或降低，打破体内原有的平衡，导致复发性流产。综述基因多态性在复发性流产发生机制中的作用。

关键词: 流产, 习惯性, 多态性, 单核苷酸, 代谢, 叶酸, 细胞因子类, 性腺甾类激素, 血栓形成

Abstract:

The etiology of recurrent abortion is complex, involving chromosome, immune, endocrine, reproductive tract microenvironment and many other aspects. As research on the etiology of recurrent abortion continues to progress, the influence of genetic polymorphisms on recurrent abortion has gradually attracted widespread attention. Folic acid is an important raw material for DNA synthesis. Changes in the polymorphism of key enzyme genes during metabolism can lead to decreased folic acid synthesis and hyperhomocysteinemia, which increases the risk of recurrent abortion. In addition, when genetic polymorphisms of cytokines and related receptors, sex hormones and related receptors and ralated genes of thrombosis factors is changed, the level of corresponding products will increase or decrease, disrupting the original balance in the body and leading to recurrent abortion. The role of gene polymorphism in the pathogenesis of recurrent abortion is reviewed.

Key words: Abortion, habitual, Polymorphism, single nucleotide, Metabolism, Folic acid, Cytokines, Gonadal steroid hormones, Thrombosis

何田玉, 王芳. 基因多态性与复发性流产[J]. 国际妇产科学杂志, 2023, 50(1): 82-87.

HE Tian-yu, WANG Fang. Genetic Polymorphisms and Recurrent Spontaneous Abortion[J]. Journal of International Obstetrics and Gynecology, 2023, 50(1): 82-87.

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