J Med Genet. 1991 Apr;28(4):252-5.

Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene.

Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giordano PC, Went LN, Bernini LF.

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Department of Human Genetics, State University, Sylvius Laboratory, Leiden, The Netherlands.

Abstract

A mild, non-transfusion dependent, beta thalassaemia phenotype is described in a Dutch patient homozygous for a mutation in the cleavage-polyadenylation sequence of the beta globin gene. The molecular basis of the mutation, AATAAA greater than AATGAA, was determined using denaturing gradient gel electrophoresis (DGGE) and direct sequencing of genomic DNA amplified by the polymerase chain reaction (PCR). Different fragments of the beta globin gene were amplified and analysed on DGGE for the presence of mutations. The fragment with an abnormal melting behaviour was reamplified and the base substitution in the polyadenylation sequence was identified by direct sequencing.

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PMCID:: PMC1016827

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