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Published on: September 9, 2012
Polymorphisms in Factor II and Factor V thrombophilia genes among Circassians in Jordan
1Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan. rdajani@hu.edu.jo
Insights
This study investigated genetic mutations linked to thrombosis in Jordan
Area of Science:
- Genetics
- Thrombosis Research
- Population Health
Background:
- Thrombosis poses a significant global health burden.
- Genetic factors play a role in thrombosis development.
- Understanding genetic predispositions is crucial for risk assessment.
Purpose of the Study:
- To determine the prevalence of Factor II G20210A and Factor V Leiden mutations.
- To analyze these genetic risk factors in the Circassian population in Jordan.
- To establish baseline genetic health data for this unique population.
Main Methods:
- Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were employed.
- 104 unrelated subjects from the Circassian population in Jordan were randomly selected.
- Genotyping was performed to identify specific single nucleotide polymorphisms.
Main Results:
- The prevalence of Factor II G20210A mutation was 12.2%.
- The prevalence of Factor V Leiden mutation was 7.7%.
- The population was found to be in Hardy-Weinberg equilibrium, with mutation rates comparable to other ethnic groups.
Conclusions:
- This study provides the first genetic health data for the Circassian population in Jordan.
- The prevalence of these thrombosis-associated mutations is within expected ranges.
- Further research is needed to correlate carrier status with actual thrombosis development and inform screening strategies.
Abstract:
Thrombosis is a major cause of morbidity and mortality worldwide. Genetic factors are one component of thrombosis. We studied the prevalence of two mutations that are known risk factors in the pathogenesis of arterial and venous thrombosis in the genetically isolated Circassian population in Jordan. Factor II G20210A and Factor V Leiden single nucleotide polymorphisms were analysed by polymerase chain reaction and restriction fragment length polymorphism method in 104 random unrelated subjects from the Circassian population in Jordan. The prevalence rates among the Circassian population in Jordan for Factor II G20210A was 12.2% and for Factor V Leiden was 7.7%. We have shown that the population is in Hardy-Weinberg equilibrium and that the prevalences of both mutations are within the range of other ethnic groups. This is the first study to describe Circassian health related genetic characteristics in Jordan. Such population-based studies will contribute to understanding the interaction between genetic and environmental risk factors. It will remain to be seen whether carriers of Factor II G20210A and Factor V Leiden are more likely to develop thrombosis. This issue should be studied in the future to determine the need for screening of these mutations particularly in thrombophilia patients.
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