A SIMPLIFIED POLYMERASE CHAIN-REACTION ASSAY FOR DETECTION OF CHROMOSOMAL TRANSLOCATIONS IN HEMATOLOGIC MALIGNANCIES

The polymerase chain reaction (PCR) is a rapid and highly sensitive me thod for detection of a variety of chromosomal translocations in malig nant tissues. Detection of each different type of translocation, or ev en DNA rearrangements at different breakpoint cluster regions within t he same type of translocation, usually requires separate thermocycling parameters and/or buffer conditions. In this report, we describe a si ngle set of reaction conditions, making use of progressively decreasin g annealing temperatures and a standardized reaction buffer, that perm its the detection of several different translocations simultaneously. Specificity equal to or better than current procedures and sensitivity equivalent to one malignant cell in 1 x 10(5) normal cells was achiev ed for translocations t(14;18)(q32;q21), t(9;22)(q34;q11), and t(4;11) (q21;q23). For PCRs formerly requiring different, fixed annealing temp eratures, the new technology allows batching or multiplexing of PCR sa mples. Thus, shorter turnaround time, decreased cost per sample, and s implified mechanization of PCR may be attainable using this assay.