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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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.
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