The restriction enzyme Ava II detects the base change of the intervening sequence II (IVS II) which is used as one of the markers of β-globin gene polymorphism. This study was conducted to determine the frequency of the Ava II site on the β-globin gene among normal people and patients with sickle cell syndrome (SCS) in Iran. DNA fragments containing the IVS II region of the β-globin gene from 30 patients with sickle cell anemia and 30 normal individuals were amplified using PCR technique. The amplified DNA of various subjects was digested with the Ava II enzyme and the products were examined by electrophoresis on agarose gel. The Ava II site was present in all 60 chromosomes of the patients while it was present with a frequency of 78% in the chromosomes of the normal individuals. The results were compared with those of Afro-American blacks, Italian and some Indian populations. Our results demonstrate the association of the Ava II site in the β-globin gene with sickle cell mutation in the Iranian population.

Keywords: Sickle cell syndrome (SCS), Beta globin gene, Polymorphism, Iran

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