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Hb F-Emirates [Gγ59(E3)Lys→Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing

Manca, Laura and Pirastru, Monica and Speziga, Silvia Maria and Masala, Bruno Lucio (2006) Hb F-Emirates [Gγ59(E3)Lys→Glu] observed in a family of Sardinian ancestry and characterized by DNA sequencing. Hemoglobin, Vol. 30 (1), p. 29-36. eISSN 1532-432X. Article.

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DOI: 10.1080/03630260500453990

Abstract

Hb F-Emirates [Gγ59(E3)Lys→Glu] was first described in a newborn from the United Arab Emirates. Here we describe the occurrence of this variant in a family of Sardinian ancestry. Direct DNA sequencing analysis of the selectively amplified Gγ gene shows that the AAA→GAA transition, corresponding to a Lys→Glu substitution, is responsible for this abnormal hemoglobin (Hb). Our observation indicates a multiple origin of the mutation. In order to facilitate future studies at the level of population genetics, the structure of the entire Gγ gene that carries the mutation was assessed and compared with that of normal Gγ genes.

Item Type:Article
ID Code:3068
Status:Published
Refereed:Yes
Uncontrolled Keywords:Hb F-Emirates, Gγ chain variant, DNA sequencing, abnormal hemoglobin (Hb), Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 02 Centri > Centro di eccellenza interdisc. sviluppo ricerca biotecnologica e studio biodiversità della Sardegna e dell'area mediterranea
001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
Publisher:Informa Healthcare
eISSN:1532-432X
Deposited On:30 Sep 2009 09:11

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