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The C→G transition in the α2-globin gene of a normal αα-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians

Masala, Bruno Lucio and Musino, Lorena and Pirastru, Monica and Manca, Laura (2004) The C→G transition in the α2-globin gene of a normal αα-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians. European Journal of Haematology, Vol. 72 (6), p. 437-440. Article.

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DOI: 10.1111/j.1600-0609.2004.00251.x

Abstract

Sequencing of α-globin genes of 18 Sardinian heterozygotes for the Hb G-Philadelphia [α68(E17)Asn→Lys] variant, with four active α genes and circulating level of the variant of about 27%, showed the AAC→AAG change at codon 68 of the α 2-globin gene (αGα / αα). Two heterozygotes with level of about 37% were the carriers of the same mutation on the same α2 gene, and of the α2α1 hybrid gene, because of the 3.7-kb deletion, in trans (αGα /−α 3.7). In Black people, the same C→G mutation occurs on the hybrid gene (−αG3.7), whereas in Caucasians the Lys for Asn change is because of the C→A transversion occurring on the α2 gene of a normal αα arrangement. The identification of the C→G mutation on the normal αα chromosome points to an undescribed genotype for this rather common variant, which is probably because of the high rate of recombination between the duplicated α-globin genes.

Item Type:Article
ID Code:2504
Status:Published
Refereed:Yes
Uncontrolled Keywords:Hb G-Philadelphia, α2 mutation, α-thalassaemia, α-globin gene deletion, chromosomal arrangement, 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:Blackwell Munksgaard / Wiley
Copyright Holders:© Blackwell Munksgaard 2004
Deposited On:18 Aug 2009 10:07

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