Detection of beta-thalassaemia mutation insertion ATCT at codon 47/48 by ARMS technique for screening & prenatal...

We report the diagnosis of the newly identified mutation codon 47/48 insertion ATCT using allele specific primers by the PCR-based amplification refractory mutation system (ARMS). Using this method prenatal diagnosis was provided to five couples at risk for this mutation. The assay provides an easy, non-isotopic method for identifying this mutation in cases which remain uncharacterized after screening for the 5 'common' and 12 'rare' Indian mutations. It will be useful for screening and prenatal diagnosis in at risk couples and help in the thalassaemia control programme in India.