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Nucleic Acids Research, 1988, Vol. 16, No. 11 4927-4935
© 1988

Articles

A novel ß thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2

Cherif Beldjord2,3, Claudine Lapoumeroulie2, Josee Pagnier2, M. Benabadji3, Rajagopal Krishnamoorthy3, Dominique Labie2 and Arthur Bank1,*

1Columbia University, College of Physicians and Surgeons, Departments of Medicine, and Genetics and Development New York, NY, USA 2Institut National de la Santé et de la Recherche Médicale, Unité de Recherches en Pathologie Moleculaire, Institut de Pathologie Moleculaire, Faculte de Médecine Cochin Port-Royal Paris, France 3Centre de Transfusion Sanguine Algiers, Hospital Mustapha Algiers, Algeria

*To whom correspondence should be addressed

Received February 2, 1988. Revised May 5, 1988. Accepted May 5, 1988.

An adult Algerian patient with homozygous ß thalassemia was found to have a unique ß thalassemia gene. Cloning and sequencing revealed that the only abnormality present in this ß gene is a transversion in the polypyrimidine stretch at the 3' end of the large intervening sequence (IVS 2) six bases 5' to the consensus AG dinucleotide sequence (CCGCCCACAG instead of CCTCCCACAG). In addition, digestion of the cloned fragment by the enzyme Mnl I demonstrates the disappearance of a restriction site as expected. This is the first example of a defect in the consensus sequence at the 3' end of an IVS leading to a thalassemia phenotype presumably due to decreased splicing.


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