IJSR International Journal of Scientific Research 2277 - 8179 Indian Society for Health and Advanced Research ijsr-6-10-12348 Original Research Paper Factor V Leiden and Prothrombin gene mutations in patients with arterial thrombotic diseases from Kashmiri population H Zargar Dr. Qurteeba Mahajan Dr. Nabeela Khan Dr. October 2017 6 10 01 02 ABSTRACT

 Aim: The role of FVL mutation and prothrombin gene mutation have been well established in venous thrombolism. The aim of this study was to investigate whether these mutations have a role in arterial thrombotic disease namely ischemic stroke and intracranial hemorrhagic in Kashmiri population.

Methodology: A case–control study was designed with 75 ischemic stroke patients, 75 intracranial hemorrhagic patients and 100 healthy controls. The mutations were analysed using ARMS– PCR and PCR–RFLP approach.

Result: The FVL GA genotype was found to be to be significantly associated with the increased risk of ischemic stroke (p=0.03) while no association was found with intracranial haemorrhage (p=0.07).  The prothrombin 20210 G > A mutation was not found in any of the cases or controls.

Conclusion: The increased frequency of FVL mutation in ischemic stroke patients indicates a significant role of this mutation in the development of ischemic stroke in our population. We therefore suggest the routine screening of FVL mutation as a thrombophilic marker in Kashmiri patients with arterial thrombosis.