A novel beta-thalassemia mutation in an Asian Indian.
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.
Shaji
Ramachandran V
RV
Department of Haematology, Christian Medical College Hospital, Vellore, India. rvshaji@cmcvellore.ac.in
Gerard
Nathalie
N
Krishnamoorthy
Rajagopal
R
Srivastava
Alok
A
Chandy
Mammen
M
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*
D018389:Codon, Nonsense; D005914:Globins