Premium
The C→G transition in the α2‐globin gene of a normal αα‐chromosome is responsible for the Hb G‐Philadelphia variant in Sardinians
Author(s) -
Masala B.,
Musino L.,
Pirastru M.,
Manca L.
Publication year - 2004
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2004.00251.x
Subject(s) - transversion , genetics , gene , transition (genetics) , biology , mutation , chromosome , microbiology and biotechnology , x chromosome , gene mutation
Sequencing of α ‐globin genes of 18 Sardinian heterozygotes for the Hb G‐Philadelphia [ α 68(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 ( α G α / α α ). Two heterozygotes with level of about 37% were the carriers of the same mutation on the same α 2 gene, and of the α 2 α 1 hybrid gene, because of the 3.7‐kb deletion, in trans ( α G α /− α 3.7 ). In Black people, the same C→G mutation occurs on the hybrid gene (− α G 3.7), whereas in Caucasians the Lys for Asn change is because of the C→A transversion occurring on the α 2 gene of a normal α α arrangement. The identification of the C→G mutation on the normal α α 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.