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Related Experiment Videos

Frequency of factor V leiden mutation.

Nasiruddin1, Zahur-ur-Rehman, Masood Anwar

  • 1Department of Pathology, 136 Field Ambulance.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|January 27, 2005
PubMed
Summary

The factor V leiden mutation, a genetic risk for blood clots, is uncommon in Punjabi and Pathan populations. This observational study found a low carrier rate of 1.3% in healthy individuals from Pakistan.

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Genes·2025

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • The factor V leiden mutation is a common inherited thrombophilia.
  • Its prevalence varies significantly across different ethnic populations.
  • Understanding regional carrier rates is crucial for assessing thrombotic risk.

Purpose of the Study:

  • To determine the frequency of the factor V leiden mutation in Punjabi and Pathan populations.
  • To provide data on the carrier rate of this thrombophilia in a Pakistani cohort.

Main Methods:

  • An observational study was conducted over one year (2001) in Rawalpindi, Pakistan.
  • DNA was extracted from peripheral blood of 400 healthy, unrelated subjects (200 Punjabis, 200 Pathans).
  • Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to detect the factor V leiden mutation.

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Main Results:

  • Only 5 heterozygotes for factor V leiden were detected among the 400 subjects.
  • The overall carrier rate was 1.3% (95% CI 0.2-2.2%).
  • Carrier rates were 1% in Punjabis and 1.5% in Pathans.

Conclusions:

  • The prevalence of factor V leiden is low in the studied Asian populations (Punjabis and Pathans).
  • This finding aligns with generally lower rates observed in Asian and African populations compared to Europeans.
  • The study highlights the need for population-specific data in genetic risk assessment.