Sardinian (G)γ-HPFH: A T → C substitution in a conserved 'octamer' sequence in the (G)γ-globin promoter

S. Ottolenghi; S. Nicolis; R. Taramelli; N. Malgaretti; R. Montovani; P. Comi; B. Giglioni; M. Longinotti; F. Dore; L. Oggiano; P. Pistidda; A. Serra; C. Camaschella; G. Saglio

Sardinian (G)γ-HPFH: A T → C substitution in a conserved 'octamer' sequence in the (G)γ-globin promoter

S. Ottolenghi, S. Nicolis, R. Taramelli, N. Malgaretti, R. Montovani, P. Comi, B. Giglioni, M. Longinotti, F. Dore, L. Oggiano, P. Pistidda, A. Serra, C. Camaschella, G. Saglio

IRCCS Ospedale San Raffaele

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	815-817
Number of pages	3
Journal	Blood
Volume	71
Issue number	3
Publication status	Published - 1988

ASJC Scopus subject areas

Hematology

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Sardinian (G)γ-HPFH : A T → C substitution in a conserved 'octamer' sequence in the (G)γ-globin promoter. / Ottolenghi, S.; Nicolis, S.; Taramelli, R.; Malgaretti, N.; Montovani, R.; Comi, P.; Giglioni, B.; Longinotti, M.; Dore, F.; Oggiano, L.; Pistidda, P.; Serra, A.; Camaschella, C.; Saglio, G.

In: Blood, Vol. 71, No. 3, 1988, p. 815-817.

Research output: Contribution to journal › Article › peer-review

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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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T2 - A T → C substitution in a conserved 'octamer' sequence in the (G)γ-globin promoter

AU - Ottolenghi, S.

AU - Nicolis, S.

AU - Taramelli, R.

AU - Malgaretti, N.

AU - Montovani, R.

AU - Comi, P.

AU - Giglioni, B.

AU - Longinotti, M.

AU - Dore, F.

AU - Oggiano, L.

AU - Pistidda, P.

AU - Serra, A.

AU - Camaschella, C.

AU - Saglio, G.

PY - 1988

Y1 - 1988

N2 - 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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