RAPID DETECTION OF THE COMMON MEDITERRANEAN ALPHA-GLOBIN DELETIONS REARRANGEMENTS USING PCR/

The most frequent molecular lesions causing alpha-thalassemia are dele tions of one or more alpha-globin genes. Detection of these deletions generally requires genomic Southern analysis, which is cumbersome and time consuming, We have designed new sets of primers for PCR identific ation of the common Mediterranean alpha-globin gene rearrangements, in cluding the -alpha(3.7) deletion and the alpha alpha alpha(anti3.7) tr iplication, the -alpha(4.2) deletion, and the --(Mod) allele. We have established reaction conditions that provide easily interpretable, una mbiguous diagnoses. Some of the PCR reactions are multiplex, simultane ously identifying several genotypes, thus reducing the time and cost o f screening and prenatal testing, The use of these methods should faci litate carrier screening and identification of couples at risk for alp ha-thalassemia. (C) 1998 Wiley-Liss, Inc.