ARMS/PCR جهش هاي شايع در بيماران مبتلا به بتاتالاسمي در سطح استان آذربايجان غربي با روش

FINDING THE MOST PREVALENT - THALASSEMIA MUTATIONS IN WEST AZERBAIJAN PROVINCE USING ARMS/PCR METHOD

Background & Aim : (Beta)-thalassemia constitute one of the most serious health problems worldwide, accounting for a major number of childhood deaths per year. The diesease results from mutations in and around the (Beta)-globin gene located as a cluster on the short arm of chromosome 11. (Beta)-thalassemia is an autosomal recessive disorder. At present more than 250 mutations produce (Beta)-thalassemia but studies showed that the molecular basis of f-thalassemia in different part of the world is quite heterogeneous. Therefore it is necessary each country accomplish their own mutations pattern. Material and Methods: One hundred-fifty chromosome from (Beta)-thalassemia patients who referred to University Genetic center by using ARMS/PCR method were investigated. For each patient 20 most common mutations of the Mediterranean region was studied. Results: The results showed IVSII-1 (G A) with a frequency of 50.7% represented the most common mutation followed by the following six mutations: Fr8-9(+G) (16%), Codon 44(-C)(9.3%), IVSI-6(T -.0 (8%), IVSI-5(G C)(8%), IVS1-110(G y A)(5.3%), and Codon 30 (2.7%). No other mutation were detected. Discussion: These data suggests that the pattern of mutations in WA province differs from those reported for other thalassemic regions. Because these 7 mutations covers more than 95% of the patients therefore they are useful in prenatal diagnosis process of the disease in the region.