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Hb Utrecht [α 2 129(H12)Leu → Pro], a new unstable α2‐chain variant associated with a mild α‐thalassaemic phenotype
Author(s) -
Harteveld C. L.,
Giordano P. C.,
Losekoot M.,
Heister J. G. A. M.,
Batelaan D.,
Van Delft P.,
Bruin M. C. A.,
Bernini L. F.
Publication year - 1996
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1996.d01-1828.x
Subject(s) - mutant , phenotype , gene , microbiology and biotechnology , genetics , biology , mutation , point mutation , globin , transition (genetics)
We describe a new α 2 ‐globin gene point mutation found in six individuals of a three‐generation Dutch family. The mutant, which is associated with a mild α‐thalassaemic phenotype, is not detectable at the protein level. The α 2 cd129 (CTG → CCG) transition was found by molecular analysis using denaturing gradient gel electrophoresis (DGGE) and single‐strand conformation analysis (SSCA) followed by direct sequencing of the α 2 ‐globin gene. Southern analysis revealed a triplication of the ζ‐gene in cis with the mutant α‐globin gene.