Genotyping for known Mediterranean {alpha}-thalassemia point mutations using a multiplex amplification refractory mutation system

Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso", CNR, Naples, Italy Correspondence: Clementina Carestia, Istituto di Genetica e Biofisica "Adriano Buzzati Traverso", CNR, Via Pietro Castellino 111, 80131, Napoli, Italy. Phone: international +39.081. 6132425/602. Fax: international +39.081.6132602. E-mail: carestia{at}igb.cnr.it We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine known mutations of the 2-globin gene and of the ARMS assay for the detection of 1 Hb J-Oxford and – 3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons. Key words: -thalassemia, multiplex-ARMS, genetic variability, microcytic anemias, Hb Sun Prairie.