Gamma gene promoter and enhancer structure in Seattle variant of hereditary persistence of fetal hemoglobin

摘要: A variant of hereditary persistence fetal hemoglobin (HPFH), first described in a patient from Seattle, was studied by structural analysis the gamma-globin genes. family study suggested that determinant for this form HPFH, which HbF contains both G gamma- and chains, segregated with beta S gene. No deletions or other abnormalities were detected to adult globin gene region genomic mapping studies. All four genes isolated cosmid library, allelic pairs distinguished linkage either S- A-globin Nucleotide sequence promoters revealed total three discrepancies compared reference sequence, but these judged unlikely be underlying determinants. Sequence enhancer located 3' putative HPFH chromosome base substitutions, whereas normal linked These data raise possibility an alteration function rather than promoter could basis condition.