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: α Hph α: α2 IVS I donor site GGTGAGG → GG; α NcoI α: α2 initiation codon ATG → ACG; α TSaudi α: α2Poly A signal AATAA → AATAAG; α Icaria α: α2 termination codon TAA → AAA (Ter → LYS); α CS α: α2 termination codon TAA → CAA (Ter → gly); αα NcoI : α1 initiation codon ATG → GTG; and three α2 globin gene point mutations found in immigrants in Italy: α T‐Quongsze α: α2 codon 12 CTG → CCG (Leu → Pro); α Seal Rock α: α2 termination codon TAA → GAA (TER → GLU); and α Koyadora α: 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.