Ava II Site as a Marker of β-Globin Gene Polymorphism, among Normal and Sickle Cell Patients in Iran
نویسندگان
چکیده
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. Iran. Biomed. J. 5 (4): 117-119, 2001
منابع مشابه
Ava II Site as a Marker of β-Globin Gene Polymorphism, among Normal and Sickle Cell Patients in Iran
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...
متن کاملBeta-Globin Gene Cluster Haplotypes in Iranian Sickle Cell Patients: Relation to Some Hematologic
Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in...
متن کاملElucidation of βs/ Globin Gene clusters Haplotypes Related to Sickle Cell Anemia in Khuzestan Province, Southwest of Iran
Background & objectives: The researcher clarified that β/Globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. Materials and methods: A total of 150 subjects was investigated in two different groups for five polymorphism restriction site...
متن کاملTherapeutic approaches in patients with β-thalassemia
Beta-thalassemia (β-thal) is a congenital hemoglobinopathy explained by a decreased level (β+) or absence (βο) of β-globin gene expression. Microcytic hypochromic anemia and various clinical symptoms comprising severe anemia to clinically nonsymptomatic features. Treatment with an ordered blood transfusion and iron chelator agents can decrease transfusion iron overload that causes normal matura...
متن کاملThalassemic Mutations in Southern Iran
Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...
متن کامل