SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN CALABRIA - IMPLICATIONS FORPRENATAL-DIAGNOSIS

Using a combination of oligonucleotide probes and restriction endonucl ease enzymes, we characterize beta-thalassemic mutations in 91 homozyg ous patients and 86 unrelated carriers, Overall, 268 beta-thalassemic genes were obtained. Eleven beta-globin mutations were identified, con firming the wide molecular heterogeneity of beta-thalassemia in Calabr ia. Information from the present study represents the mainstay for the development of a program of early prenatal diagnosis by direct detect ion of mutations in Calabria. (C) 1995 Wiley-Liss, Inc.