Rare β‐thalassaemia mutations in Asian Indians
- 1 December 1991
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 79 (4) , 640-644
- https://doi.org/10.1111/j.1365-2141.1991.tb08094.x
Abstract
Five β-thalassaemia mutations hitherto undescribed in Asian Indians were identified in β-thalassaemia carriers originating from the Indian subcontinent by direct sequencing of their β-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 β-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 β-thalassaemia mutations in 708 carriers of Asian Indian origin and will enable a comprehensive programme of carrier screening and prenatal diagnosis of β-thalassaemia in this population.Keywords
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