Related Experiment Video
Updated: Jun 29, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
The first homozygous family for prothrombin G20210A polymorphism reported in Latin America
Alejandro Roman-Gonzalez1, Henry Cardona, Walter Cardona-Maya
1Grupo de Investigacion en Trombosis, Universidad de Antioquia-Hospital Universitario San Vicente de Paul, Medellín, Colombia.
Abstract:
The 20210A allele of the prothrombin gene is associated with increased risk of venous thromboembolism. In this study, we described manifestations of thrombosis in four generations of a Colombian family, with four 20210A homozygous carriers and six 20210G/A heterozygous carriers for polymorphism as well as unrelated participants from the same population. The levels of prothrombin in the 20210A homozygote patients were higher than in the normal 20210G homozygotes (133 + 11% and 92.3 + 12.4%, respectively, P < .01) and the 20210G/A heterozygotes (133 + 11% vs. 114.8 + 24%, P < .05). About 2 out of 4 20210A homozygotes and 5 out of 6 20210G/A heterozygous members of this family did not have venous thromboembolism or any other thrombotic manifestation even though one of them had been exposed to thrombotic risk factors. Thus, we posit the effect of 20210A on the thrombotic phenotype in this family seems to be weak.
Related Concept Videos
Principles of Pharmacogenetics: Types of Genetic Variants
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
Single Nucleotide Polymorphisms-SNPs
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

