A single-base change at position -175 in the 5'-flanking region of the G gamma-globin gene from a black with G gamma-beta+ HPFH.
Hereditary persistence of fetal hemoglobin (HPFH) is a human hemoglobinopathy characterized by the continued expression of fetal globins during adult life. Both deletional and nondeletional forms have been described. A number of single-base changes in the immediate 5'-flanking region of the fetal G gamma and A gamma have been reported associated with nondeletional forms of HPFH. We now present the nucleotide sequence of a G gamma-globin gene from an American black with G gamma-beta + HPFH. The immediate 5'-flanking region of this G gamma gene has a T-to-C change at -175, C at -158, and a normal C at -202. Additional changes were found in IVS2 and in the immediate 3'-flanking region, some of which may represent gene-conversion events. The sequence change at -175 probably represents a second mutation associated with the G gamma-beta + HPFH phenotype in blacks. This base change alters an octamer sequence known to be of importance in the normal expression of several other genes.
D001483:Base Sequence; D002877:Chromosomes, Human; D005260:Female; D005319:Fetal Hemoglobin; D005796:Genes; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006453:Hemoglobinopathies / Q000235:genetics*; D006801:Humans; D011995:Recombination, Genetic
D005914:Globins; D005319:Fetal Hemoglobin