در استان آذربايجان غربي REFLP/PCR ناشي از جهش در ناحيه اينترون هاي 81 و 91 ژن هموفيلي به روش A تعيين ناقلين بيماري هموفيلي

IDENTIFICATION OF HAEMOPHILIA A CARRIERS DUE TO MUTATION AT INTRON 18 AND 19 OF HEMOPHILIA GENE BY RFLP/PCR METHOD IN WEST. AZERBAIJAN PROVINCE

Introduction: Haemophilia A is an X-linked, recessively inherited bleeding disorder which results from deficiency of procoagulant factor VIII (FVIII). Affected males suffer .from joint and muscle bleeding and easy bruising, the severity of which is closely correlated with the level of activity of coagulation. factor VIII (FVIII:C) in their blood. Haemophilia severity is defined by FVIIL• C level in plasma, where normal individuals have between 0.5-1.5 iu/ml; severely affected individuals have (<0.02-0.10) iu/ml and mild (>0.109) iu/ml. The disease affects approximately 1 in 5,000 malesʹ world wide. Materials & Methods: Blood samples were obtained from patients and their families. DNA was extracted from the whole blood of them. Amplification was carried out using thermocycler and primer designed for two RFLP makers inside the intron 18 and 19. The PCR products were cut with restriction enzymes BCLI and Hindlll and were analyzed on 2% agarose gels. Results: From 100 patients and their families in this study, it was revealed that the results were informative in 46% of the cases. In addition it was found about 79.7% of the cases were familial and 20.3% sporadic. 86.1% of cases were male and 13.9% female. Obligatory carriers were 56% of the cases and non obligatory carriers were 44% of the patients. Discussion: Although this method is informative in only 46% of the cases, but because it is the only available and practical method in our country, it should be applied on all our health centers. These markers are useful. for prenatal diagnosis of haemophilia A in pregnant women and other people who are at risk.