Related Experiment Video
Updated: Jun 21, 2025
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events
Priti Satyarthi1, Debadrita Ray1, Vasant Kumar1
1Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Abstract:
Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients. We aimed to assess the prevalence of PGM in patients with thromboembolic events from north India region. The thrombophilia workup comprising Protein C, Protein S, Antithrombin functional activity, lupus anticoagulant and anti-ACA and anti-ß2GP1 antibodies were performed in coagulation analyzer (ACLTOP-500, Instrumentation Laboratory, USA) and automated chemiluminescent assay analyzer (ACUSTAR, IL) respectively. PCR-RFLP was used to perform PGM and FVL mutation. Out of 509 patients, DVT and CVT/CSVT were identified in 208 and 250 patients respectively. A total of 42 (8.2%) cases showed inherited thrombophilia and 11 (2.1%) acquired thrombophilia. Among the inherited defects, the most common was FVL mutation 31 (6%) The PGM was seen in only 2/509 (0.3%) patients. The prevalence of PGM in North Indian patients with DVT, stroke and CVT is 0.41% (2/509). Although PGM is rare in this population, its presence emphasizes its association with these conditions. However, the role of PGM testing remains debatable due to its scarcity among North Indians.
Supplementary Information:
The online version contains supplementary material available at 10.1007/s12288-024-01741-x.
Insights
The prothrombin gene G20210A mutation (PGM) is rare in North Indian patients with thromboembolic events, found in 0.41% of cases. Despite its scarcity, PGM
Area of Science:
- Hematology
- Genetics
- Thrombosis Research
Background:
- The prothrombin gene G20210A mutation (PGM) was traditionally considered absent in India.
- Recent reports indicate PGM in a few Indian patients, necessitating prevalence assessment.
- Thromboembolic events, including deep vein thrombosis (DVT) and cerebral venous sinus thrombosis (CVT), are significant health concerns.
Purpose of the Study:
- To determine the prevalence of the prothrombin gene G20210A mutation (PGM) in North Indian patients experiencing thromboembolic events.
- To evaluate the frequency of PGM in conjunction with other inherited and acquired thrombophilia markers.
Main Methods:
- A cohort of 509 patients with thromboembolic events (DVT, CVT/CSVT) from North India was studied.
- Thrombophilia workup included assays for Protein C, Protein S, Antithrombin, lupus anticoagulant, anti-ACA, and anti-ß2GP1 antibodies.
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to detect PGM and Factor V Leiden (FVL) mutations.
Main Results:
- Out of 509 patients, 42 (8.2%) had inherited thrombophilia and 11 (2.1%) had acquired thrombophilia.
- Factor V Leiden (FVL) mutation was the most common inherited defect, found in 31 (6%) patients.
- The prothrombin gene G20210A mutation (PGM) was detected in only 2 patients (0.41%), confirming its rarity in this population.
Conclusions:
- The prevalence of PGM in North Indian patients with DVT, stroke, and CVT is low (0.41%).
- Despite its rarity, the presence of PGM underscores its potential association with thromboembolic conditions.
- The clinical utility of routine PGM testing in North Indians remains questionable due to its low prevalence.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
01:30Anticoagulant Drugs: Low-Molecular-Weight Heparins
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...