Prevalence of Factor V Leiden Mutation in Healthy Females of Sindh, Pakistan and Comparison of Three Detection Methods in Resource-Limited Settings: Prevalence of Factor V Leiden Mutation

Feriha Fatima Khidri; Hina  Riaz; Yar Muhammad  Waryah; Roohi  Nigar; Ali Muhammad  Waryah

doi:10.54393/pjhs.v4i09.1007

Authors

Feriha Fatima Khidri Department of Biochemistry, Bilawal Medical College, Jamshoro, Pakistan/Department of Molecular Biology and Genetics, Medical Research Centre, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan
Hina Riaz Department of Physiology, Dow University of Health Sciences, Karachi, Pakistan
Yar Muhammad Waryah Department of Molecular Biology and Genetics, Medical Research Centre, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan/Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad, Pakistan
Roohi Nigar Department of Gynecology and Obstetrics, Bilawal Medical College, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan
Ali Muhammad Waryah Department of Molecular Biology and Genetics, Medical Research Centre, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan

DOI:

https://doi.org/10.54393/pjhs.v4i09.1007

Keywords:

ARMS, Females, FVL, PCR, RFLP, Sequencing

Abstract

Factor V Leiden (FVL) mutation is related to venous thromboembolism and pregnancy complications. It is highly prevalent among Caucasians; however, few studies have been conducted on the Asian population. Objective: To find the prevalence, genotype, and allelic frequency of FVL mutation in females of Sindh, Pakistan, and to develop a valid and economical method for the detection of FVL mutation in resource-limited settings. Methods: Hundred (n=100), unrelated healthy females of Sindh, Pakistan, were recruited. FVL was detected using three methods, i.e., tetra primer amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (PCR-RFLP), and PCR-sequencing. Prevalence, genotype, and allele frequencies were calculated. We compared the three mutation detection methods to find a suitable protocol for FVL detection in developing countries.

Results: The prevalence of FVL mutation was 3% in healthy females of Sindh, Pakistan. No homozygous FVL mutation was found. The results from tetra primer ARMS-PCR, PCR-RFLP, and PCR-sequencing were 100% concordant. Tetra primer ARMS-PCR was a valid, reliable, faster, economical genotyping and screening method. Conclusions: In conclusion, FVL mutation was found in our population, and further studies should be conducted to find its role in thromboembolic and obstetrical complications. In addition, we have suggested tetra primer ARMS-PCR as an appropriate method for FVL detection in resource-limited settings.

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