Rapid detection of six common Mediterranean and three non‐Mediterranean α‐thalassemia point mutations by reverse dot blot analysis

We describe the implementation of reverse dot blot (RDB) hybridization as a rapid nonradioactive method for the identification of six frequent globin gene point mutations in the Mediterranean population: αHphα: α2 IVS I donor site GGTGAGG GG-----; αNcoIα: α2 initiation codon ATG ACG; αTSaudiα: α2Poly A signal AATAA AATAAG; αIcariaα: α2 termination codon TAA AAA (Ter LYS); αCSα: α2 termination codon TAA CAA (Ter gly); ααNcoI: α1 initiation codon ATG GTG; and three α2 globin gene point mutations found in immigrants in Italy: αT-Quongszeα: α2 codon 12 CTG CCG (Leu Pro); αSeal Rockα: α2 termination codon TAA GAA (TER GLU); and αKoyadoraα: α2 termination codon TAA TCA (TER SER). The method uses the principle of allele-specific oligonucleotide (ASO) hybridization, but it is a nonradioactive method and permits rapid and simultaneous typing of point mutations and small deletions. Am. J. Hematol. 74:191–195, 2003. © 2003 Wiley-Liss, Inc.