Talasemi hastalarında mangan süperoksit dismutaz (MN-SOD) gen polimorfizmi
Abstract
The aim of our study, both thalassemia patients and control groups in relationship between MnSOD Ala16Val C/T is determined the single nucleotide polymorphisms and to determine whether this polymorphism relationship with gender in Turkey population. Thalassemias are hereditary blood diseases (that is, they're passed from parents to children through the genes) due to unbalanced globin chain synthesis. Unbalanced globin chain synthesis is the major cause of low level hemoglobin production leading to anemia. The Thalassaemias (especially beta-thalassemia) pose by far the most important global public health problem which are widespread throughout the Mediterranean region Africa, the Middle East, the Indian subcontinent, and Southeast Asia. Main cause of the beta thalassemias is defective β-globin synthesis, which leads to imbalanced globin chain production and an excess of α-chains. In this study, determine genetic polymorphism of the MnSOD were analyzed in 50 blood samples. C→T single nucleotide polymorphism (SNP) was investigated in MnSOD Ala16Val (rs4880) region C/T extraction DNAs, were amplified with the PCR technique. Then, the amplified oligonucleotides were cut with the RFLP technique. The genotype frequencies of the SNP in the patients MnSOD Ala16Val (rs4880) region C/T were determined as follows; 30.0% homozygote typical (CC), 42.0% heterozygote (CT) and 28.0% homozygote atypical (TT) genotype. Additionally the frequency of C allele A(-) was found as 51.0% and of T allele A(+) as 49.0%. To determine genetic polymorphism of the MnSOD were analyzed in 50 control samples. C→T single nucleotide polymorphism (SNP) was investigated in MnSOD Ala16Val (rs4880) region C/T extraction DNAs, were amplified with the PCR technique. Then, the amplified oligonucleotides were cut with the RFLP technique. The genotype frequencies of the SNP in the patients MnSOD Ala16Val (rs4880) region C/T were determined as follows; 10.0% homozygote typical (CC), 52.0% heterozygote (CT) and 38.0% homozygote atypical (TT) genotype. Additionally the frequency of C allele A(-) was found as 36.0% and of T allele A(+) as 64.0%. There was a statistically significant difference between the patient and control groups in MnSOD Ala16Val (rs4880) genotip frekansı (p<0.05). A significant difference was not found between MnSOD Ala16Val (rs4880) gene polymorphism and genders (p>0.05).