POSTER NO: 360

Beta-thalassemia mutations identification by PCR based methods

¹Rodica Talmaci, ¹Lucian Gavrila, ²Luminita Neagu
¹Institute of Genetics, Aleea Portocalilor Nr. 1-3 Scetor 6 Bucharest, Romania, ²Institute, Bucharest, Romania

The thalassemias are a group of inherited recessive disorders in with a defect in synthesis of globin polypeptide chain of hemoglobin is present. Reliable diagnosis of the thalassemia syndromes can be achieved only by using modern methods of molecular genetics. New procedures to detect beta-thalassemia mutations have been developed. All of them are based on PCR methodology. Their main advantages are simplicity and rapidity. The analysis of genomic DNA isolated from the blood of the patient affected with beta-thalassemia is carried out by the Amplification Refractory Mutation System (ARMS) method. The ARMS-PCR is a simple and rapid method of detecting point mutations, restriction fragment length polymorphisms (RFLPs) and small nucleotide insertion or deletion. The IVS1-110 and IVS2-745 point mutations were identified in beta-thalassemia patients. These are the most common mutations in Romanian beta-thalassemic populations.