title: Detection of beta-thalassaemia mutation insertion ATCT at codon 47/48 by ARMS technique for screening & prenatal diagnosis.
abstract: 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.
authors.affiliation: Department of Paediatrics, WHO Collaborating Centre in Genetics, All India Institute of Medical Sciences, New Delhi.
authors.forename: R
authors.initials: R
authors.lastname: Saxena
authors.forename: E
authors.initials: E
authors.lastname: Thomas
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
mesh_terms: D003062:Codon; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D016254:Mutagenesis, Insertional; D016133:Polymerase Chain Reaction / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon