The relationship between the variations in G γ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH).
The relationship between the variations in Gγ and Aγ promotors and the Hereditary Persistence of Fetal Hemoglobin (HPFH). Cell Mol Biol (Noisy-le-grand). 2018 Jan 31;64(1):32-39 Authors: Aydin M, Rencuzogullari E, Dalyan A, Bayram S, Genc A Abstract In the present study, sixty-two samples that have 1.5% and upper level of fetal hemoglobin (HbF), were examined to investigate the relationship between HbF level and non-deletional mutations in both Gγ (G gamma) globin (HBG2) and Aγ (A gamma) globin (HBG1) genes. Four variations were observed in the promotor of Gγ gene, which are -158C/T, -309A/G, -369C/G, and -567T/G. Also, four variations were observed in the 5'-UTR (untranslated regions) and promotor of Aγ gene, which are +25G/A, -369G/C, -499T/A, and -588G/A. One -222/-225 AGCA del homozygous and six variations as heterozygous in A gamma globin gene promotor region were also observed. The results of the current study suggested that there was a significant relationship between high HbF levels and two variations (-309A/T and -369C/G) in Gγ gene promotor. Additionally, a significant relationship between two variations (+25G/A and -499T/A) in Aγ gene promotor was also observed. Furthermore, the persons who carry these variations with high levels of HbF indicated that there might be a haplotype effect between these variations. PMID: 29412791 [PubMed - in process]