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A novel beta-thalassemia mutation in an Asian Indian
Ramachandran V Shaji1, Nathalie Gerard, Rajagopal Krishnamoorthy
1Department of Haematology, Christian Medical College Hospital, Vellore, India. rvshaji@cmcvellore.ac.in
Hemoglobin
|April 10, 2002
Abstract:
A novel 7 bp deletion in exon 2 of the beta-globin gene in a 9-year-old boy originating from the eastern part of India is described. This deletion causes a shift in the reading frame of the beta-globin coding sequences, and consequently, a premature translation termination due to the creation of a stop codon at position 86. A slipped strand mispairing during DNA replication repair is proposed as the potential mechanism in generating this small deletion.