Muhammet Yusuf TEPEBAŞI, NİLÜFER ŞAHİN CALAPOĞLU

3916

Hipoksi ile indüklenen faktör-1 alfa (HIF-1?) C111A gen polimorfizmi ile hemoglobin konsantrasyonu arasındaki ilişkinin araştırılması

Amaç: Sistemik hipoksiye karşı klasik fizyolojik cevap kırmızı kan hücresi üretimindeki artıştır. Hipoksi ile indüklenebilir faktörler (HIF), oksijen duyarlılık mekanizmasını ve hipoksik hücre metabolizmasını düzenlemektedirler. Son yıllardaki çalışmalar, HIF oksijen duyarlılık yolağındaki mutasyonların eritrositozun patogenezinde anahtar rol oynadığını göstermiştir. Bu çalışmamızda, transkripsiyonel aktiviteyi artırdığı bilinen HIF-1?'nın varyantı olan C111A gen polimorfizminin artmış hemoglobin konsantrasyonu ile muhtemel ilişkisini araştırmayı amaçladık. Materyal-Metot: Çalışmaya Isparta Süleyman Demirel Üniversitesi Tıp Fakültesi Hastanesi Poliklinik ve Servis'e müracat eden bireyler dahil edildi. Totalde 309, normal hemoglobine sahip 100 (Hgb17) denek vaka gurubu olarak bu çalışmada değerlendirildi. Genomik DNA örnekleri periferal kan lökositlerinden standart yönteme göre izole edildi. HIF-1? C111A tek nükleotid polimorfizmi için polimeraz zincir reaksiyonu-parça uzunluk polimorfizmi (PCR-RFLP) metodu uygulandı. Tüm bireyler için tam kan sayımı yapıldı. İstatistiksel analiz IBM SPSS Statistics 20 software, Hardy-Weinberg denge testi (HWE) ve bağımsız gruplarda t testi ile değerlendirildi. Bulgular: Vaka ve kontrol grubunda hem yaş (t= -2,80, p

Investigation of the relationship between hypoxia-induced factor-1 alpha (HIF-1?) C111A gene polymorphism and hemoglobin concentration

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-1? 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 HIF1? 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.
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Süleyman Demirel Üniversitesi Tıp Fakültesi Dergisi-Cover
  • ISSN: 1300-7416
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 1994
  • Yayıncı: SDÜ Basımevi / Isparta
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Hipoksi ile indüklenen faktör-1 alfa (HIF-1?) C111A gen polimorfizmi ile hemoglobin konsantrasyonu arasındaki ilişkinin araştırılması

Muhammet Yusuf TEPEBAŞI, NİLÜFER ŞAHİN CALAPOĞLU