EFFECT OF IRP 1 AND IRP 2 GENE POLYMORPHISMS ON BLOOD IRON LEVELS OF THALASSEMIA PATIENTS IN TURKISH POPULATION
| Autor: | KARTAL, Yasemin, KAYAALTI, Zeliha, AKYÜZLÜ, Dilek Kaya, ÖZDEMİR, Fezile, SÖYLEMEZOĞLU, Tülin |
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| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | 2.İnternational Congress Of Forensic Toxicology; Volume: Volume 2, Issue: İssue 1 (1) 31-31 The Turkish Journal Of Occupational / Environmental Medicine and Safety |
| ISSN: | 2149-4711 |
| Popis: | Inthalassemia, repeated blood transfusions, cell destruction and increasedabsorption of iron from intestine lead to iron accumulation which causestoxicity. The aim of this study was to determine the effect of iron-regulatoryprotein 1 (IRP1) and iron-regulatory protein 2 (IRP2) gene polymorphism onblood iron levels in 100 thalassemia patients in Turkish population.Thestudy population comprised 100 genetically unrelated thalassemia patients (50female and 50 male). Firstly, the genotypes of G>A-IRP1 (rs867469)polymorphism were determined by the Allele-Specific Oligonucleotide-PolymeraseChain Reaction method. The genotypes of G>A-IRP2 (rs17483548) wereinvestigated by Polymerase Chain Reaction-Restriction Fragment LengthPolymorphism method. Secondly, blood iron concentrations were measured by FlameAtomic Absorption Spectroscopy.Thegenotype frequencies of IRP1 were found as 54% homozygote typical (GG), 34%heterozygote (GA) and 12% homozygote atypical (AA) and the genotype frequenciesof IRP2 were found as 42% homozygote typical (GG), 46% heterozygote (GA) and12% homozygote atypical (AA). Although individuals with the GG genotype of IRP1gene polymorphism had higher blood iron level (300.42±61.06 µg/L) than those with GA (284.31±48.23µg/L)and AA (280.85±62.64µg/L) genotypes, according to the statistical analysis theresults were not statistically significant (p>0.05). Although individualswith the GG genotype of IRP2 gene polymorphism had also higher blood iron level(298,35±42.30 µg/L) than those with GA (289.47±64.83µg/L) and AA(284.44±73.69µg/L) genotypes, according to the statistical analysis the resultswere not statistically significant (p>0.05). Further studies with larger study groups and differentpopulations can elucidate the influence of this polymorphism on thalassemiaThis study was supported by the Scientific and Technical ResearchCouncil of Turkey (TUBITAK), Project number 114S312. |
| Databáze: | OpenAIRE |
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