title: Rare beta-thalassaemia mutations in Asian indians.
abstract: Five beta-thalassaemia mutations hitherto undescribed in Asian Indians were identified in beta-thalassaemia carriers originating from the Indian subcontinent by direct sequencing of their beta-globin genes which were amplified by the polymerase chain reaction (PCR). A T-G substitution at IVS 2 position 837, which probably creates an alternative acceptor splice site and a T insertion in codon 88, resulting in a shift in the reading frame with a premature stop codon, are new beta-thalassaemia mutations. The others were framshift codon 5 (-CT), IVS 1 position 110 (G-A) and IVS-1 minus 1 (G-A) which have been described previously in other populations. These results complete the characterization of the beta-thalassaemia mutations in 708 carriers of Asian Indian origin and will enable a comprehensive programme of carrier screening and prenatal diagnosis of beta-thalassaemia in this population.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
authors.forename: N Y
authors.initials: NY
authors.lastname: Varawalla
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D005914:Globins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007194:India / Q000208:ethnology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins; D004247:DNA