title: A novel beta-thalassemia mutation in an Asian Indian.
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.
authors.affiliation: Department of Haematology, Christian Medical College Hospital, Vellore, India. rvshaji@cmcvellore.ac.in
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.forename: Nathalie
authors.initials: N
authors.lastname: Gerard
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
mesh_terms: D000328:Adult; D002648:Child; D018389:Codon, Nonsense; D004261:DNA Replication; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005914:Globins