en ارزیابی بیان موقت موتاسیون های جایگاه 588-(A/G) ژن گاما گلوبینA در رده سلولی K562 Related Fields Related Fields مقاله کامل Full Length/Original Article Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the disease in thalassemia patients. Methods: Three constructs containing µ locus control region, Aγ-globin and β-globin genes were designed and employed in the transient expression assay. The difference among constructs was in the promoter region of Aγ-globin gene (A and G alleles at -588). A construct with T to C base substitution at -175 of Aγ-globin, created by site-directed mutagenesis, was selected as positive control. The K562 cell line was transfected with the above constructs. Subsequently, the expression of Aγ-globin gene was determined by quantitative real-time reverse transcription-PCR. Results: There was not a significant increase in the expression of Aγ-globin gene in the construct containing A allele comparing the one with G allele at -588. Conclusions: -588 (A>G) mutation does not play a major role in regulation of Aγ-globin gene, suggesting that other factors may be involved. β-thalassemia, Aγ-globin, K562 cells 15 21 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-155&slc_lang=en&sid=1 Mohammad Hamid محمد حمید No Frouzandeh Mahjoubi فروزنده محجوبی No Mohammad Taghi Akbari محمدتقی اکبری No Hossein Khanahmad حسین خان احمد No Fatemeh Jamshidi فاطمه جمشیدی No Sirous Zeinali سیروس زینلی No Morteza Karimipoor مرتضی کریمی پور mortezakarimi@yahoo.com Yes