مرکز منطقه ای اطلاع رساني علوم و فناوري - Hipoksi i̇le i̇ndüklenen faktör-1 alfa (HIF-1α) C111A gen polimorfizmi i̇le hemoglobin konsantrasyonu arasındaki i̇lişkinin araştırılması

Abstract :

Abstract Aim: Classic physiological responses to systemic hypoxia are an increase in red blood cell production. Hypoxia inducible factors (HIFs), they are regulate the oxygen sensitivity mechanism and hypoxic cell metabolism. Recent works suggest that mutation of the HIF oxygen-sensing pathway plays a key role in the pathogenesis of the erythrocytosis. In the present study, the probable role of the polymorphic HIF-1α variant C111A, which is known to enhance transc riptional activity, was evaluated association with increased haemoglobin concentration. Materials and methods: Isparta Suleyman Demirel University Medical Faculty Hospital in the clinics and service subjects were included. A total of 309 subjects 100 (Hgb 17g/dl) with normal levels of haemoglobin 209 (Hgb 17g/dl) with high levels of Hgb were recruited for this study. Genomic DNA was extracted from peripheral blood leukocytes of all subjects. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was performed for HIF- 1α C111A single nucleotide polymorphism (SNP). A complete blood count was performed for all subjects. . Data were evaluated by descriptive statistics, frequency analysis, Hardy-Weinberg equilibrium test and independent t test with SPSS 20.0 software. Results: In the case and control groups in terms of age (t= -2,80, p 0,05) and haemoglobin concentrations (t=30,50, p 0,05) were found to be statistically significant. Distribution of the genotype frequencies among the normal level Hgb and high level Hgb groups for C111A was calculated. The normal Hgb level group’s genotype frequencies were 100, 0.00, and 0.00 for CC, CA, and AA, respectively CA and AA genotypes were not observed in both groups (p 0,05). As a result, no correlation between the nucleotide polymorphism C111A with a high concentration of Hgb.