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Br J Haematol. 1996 Sep;94(3):483-5.

Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype.

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1
Department of Human Genetics, University of Leiden, The Netherlands.

Abstract

We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 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 alpha 2-globin gene. Southern analysis revealed a triplication of the zeta-gene in cis with the mutant alpha-globin gene.

PMID:
8790146
[Indexed for MEDLINE]
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