Detection of beta-thalassaemia mutations in eastern Indian population by polymerase chain reaction.
We report here the application of a non-radioactive amplification refractory mutation system (ARMS) for the direct detection of beta-thalassaemia using polymerase chain reaction. Seven beta-thalassaemia mutations accounting for 89 per cent (71 of 80) of the alleles in eastern Indian population have been identified and majority (67.5%) were due to IVS-1 nt 5 (G-C) mutation. Interestingly, 9 cases did not reveal any of the 17 common mutations reported so far from Indian population.
Ghosh Dastidar
D
D
Department of Pathology & Haematology, Assembly of God Hospital & Research Centre, Calcutta.
Dutta
R N
RN
Gupta
P
P
Old
J M
JM
D000483:Alleles; D017931:DNA Primers; D006801:Humans; D007194:India; D009154:Mutation; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000235:genetics*
D017931:DNA Primers