Hb Utrecht [α2 129(H12)Leu → Pro], a new unstable α2-chain variant associated with a mild α-thalassaemic phenotype |
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| Authors: | C L Harteveld P C Giordano M Losekoot J G A M Heister D Batelaan P van Delft M C A Bruin & L F Bernini |
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| Institution: | Department of Human Genetics, University of Leiden, Leiden;, Wilhelmina Childrens Hospital, Utrecht Academic Hospital, The Netherlands |
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| Abstract: | We describe a new α2-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 α2 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 α2-globin gene. Southern analysis revealed a triplication of the ζ-gene in cis with the mutant α-globin gene. |
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| Keywords: | α-thalassaemia haemoglobin variant unstable haemoglobin point mutation α-globin gene |
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