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Novel sequence insertion in a Mâori patient with transfusion‐dependent β ‐thalassaemia
Author(s) -
Blacklock Hilary A.,
Case Jacqui,
Chan Tim,
Raizis Tony,
Doocey Richard,
Fellowes Andrew,
Royle Gordon,
Jackson Sharon,
Brennan Stephen,
George Peter
Publication year - 2005
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 - 10.1111/j.1365-2141.2005.05781.x
Subject(s) - gene duplication , stop codon , genetics , sequence (biology) , globin , biology , medicine , pediatrics , gene
Summary Although β ‐thalassaemia is common throughout the world, it has not been previously described in Polynesia. We report a novel sequence insertion where homozygosity for the defect results in transfusion‐dependent anaemia. The repeated 45 base pair (bp) insertion causes duplication of the start codon and consequent transcription from the original initiation code would be predicted to lead to the production of an irrelevant seven‐residue peptide, while residual translation from the novel initiation site would result in diminished yields of β ‐globin and consequent clinical β + ‐thalassaemia.