Jornal Europeu de Biologia Experimental Acesso livre

Abstrato

Screening for mutations in 10 exons of the 5 coagulation factor gene in Gilan province thrombosis patients

Ali Nazemi, Hedyeh Fazel Tolami, Mohammad Navaderi, Sadaf Toulami, Maryam Jamali Hondori, Fahimeh Safarnejad Tameshkel and Seyed Reza Seyedinasab

The Coagulation factor Vis a cofactor protein of the coagulation system.Deficiency of this protein leads to predisposition for hemorrhage, while some mutations predispose for thrombosis.Whole blood samples were collected from 46 individuals to thrombosis problems from the Rasht Ashtiani laboratory with medical ethics. After DNA extraction, screening performed for presence FVL and others mutations in 3, 4,6,7,8, 12, 13, 15, 16 and 25exons via Real-time PCR and PCR sequencing.Out of 46 samples, the mutations were identified in 12patients. Among of them, 3 patients were heterozygous for Factor 5 Leiden, 4patients were heterozygous for 19257 G>C missense mutation in 3 exon, 3patients were homozygous for 48571 A>G missense mutation in 13 exon and 2patients were homozygous for 61795 A>G missense mutation in 16exon.Although these mutations have been reportedin the human populationsbut the linkage between these mutations and the predisposition to thrombophilia could be indicative of indirect their role in causing thrombosis.