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Updated: Jul 14, 2026

Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage
Published on: August 4, 2021
[Relationship between three thrombophilic gene mutations and unexplained recurrent early spontaneous abortion]
Li Xu1, Xiao-man Liu, Hong-yan Zhang
1Reproductive Research Center, Qingdao Research Institute for Family Planning, Qingdao 266071, China.
Genetic variations in the methylenetetrahydrofolate reductase (MTHFR) C677T gene are linked to unexplained recurrent early spontaneous abortion (URESA). Factor V and prothrombin gene mutations were not associated with URESA in this study population.
Area of Science:
- Reproductive Genetics
- Molecular Biology
- Thrombophilia
Context:
- Unexplained recurrent early spontaneous abortion (URESA) poses a significant challenge in reproductive medicine.
- Genetic factors, including gene polymorphisms, are increasingly recognized as potential contributors to pregnancy loss.
- Investigating specific gene mutations like MTHFR C677T, Factor V G1691A, and Prothrombin G20210A is crucial for understanding URESA pathogenesis.
Purpose:
- To investigate the association between methylenetetrahydrofolate reductase (MTHFR) C677T, factor V (FV) G1691A, and prothrombin (PT) G20210A gene polymorphisms and unexplained recurrent early spontaneous abortion (URESA).
Summary:
- A case-control study analyzed 112 URESA patients and 100 controls using PCR-RFLP.
- MTHFR C677T gene T/T genotype and T allele frequencies were significantly higher in URESA patients (P<0.01).
- Carriage of the MTHFR T/T genotype increased the risk of URESA (OR=2.8390). FV and PT G20210A mutations were absent in both groups.
Impact:
- The MTHFR C677T polymorphism is associated with URESA, suggesting a genetic predisposition.
- FV and PT G20210A mutations appear to have minimal or no role in URESA among Chinese women.
- Findings contribute to understanding the genetic underpinnings of recurrent pregnancy loss and may inform future diagnostic approaches.
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