DETECTION OF COMMON DELETIONAL ALPHA-THALASSEMIA-2 DETERMINANTS BY PCR

We have developed a rapid approach to detect the two most common alpha -thalassemia-2 (alpha-thal-2) determinants by the polymerase chain rea ction (PCR) technique, which takes a few hours to complete. Specific o ligonucleotides selectively amplify appropriate segments of the chromo some with the deletion and the normal chromosome under identical exper imental conditions, and the products are identified by electrophoresis on 1.5% agarose. Characterization of the two most prevalent types of the -alpha(3.7) determinant [-alpha(3.7(I)) and -alpha(3.7(II))] can b e made by Apa I digestion of the PCR product. Two types of alpha-thal- 2 determinants, -alpha(3.7) and -alpha(4.2), were tested in numerous s amples from various parts of the world. This approach is believed to p rovide a cost-effective way to screen large numbers of blood samples i n a relatively short time and can be used to identify alpha-thal-2 het erozygotes and homozygotes and compound heterozygotes (-alpha(3.7)/-al pha(4.2)) in populations where such alpha-gene defects are shown to ex ist at high frequencies. (C) 1994 Wiley-Liss, Inc.