Khaled I Qabaha1, Sabreen Tahayneh1, Saisathya Thanigachalam and Saleh A Naser
Objective: To investigate the distribution of three most common missense mutations-M680I, M694V and V726A in pyrin gene among clinically suspected Familial Mediterranean Fever (FMF) patients of northern side of the West Bank/ Palestine. Methods: Fifty one blood samples were collected from clinically suspected FMF patients from Jenin, Nablus and RamAllah governorates and evaluated for the missense mutation in pyrin gene using ARMS-PCR technique. Results: Among fifty one patients that were evaluated, 31(60.8%) were identified with the mutations M694V, V726A and M680I in descending order of their occurrences. The results of the other 20 were undetermined. Conclusion: Molecular diagnosis of FMF through simple ARMS-PCR method helps to confirm the clinical diagnosis of the disease that relies on signs, symptoms, ethnicity and family history and response to colchicines.
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