A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G(γ) hereditary persistence of fetal hemoglobin (HPFH). The G(γ)-globin gene from the HPFH chromosome showed the presence of a T → C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the γ-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.
Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter / S. Ottolenghi, S. Nicolis, R. Taramelli, N. Malgaretti, R. Mantovani, P. Comi, B. Giglioni, M. Longinotti, F. Dore, L. Oggiano. - In: BLOOD. - ISSN 0006-4971. - 71:3(1988 Mar), pp. 815-817.
Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter
R. Mantovani;P. Comi;
1988
Abstract
A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G(γ) hereditary persistence of fetal hemoglobin (HPFH). The G(γ)-globin gene from the HPFH chromosome showed the presence of a T → C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the γ-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.
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