A polymerase chain reaction-based method for the detection of trisomy 12 in B chronic lymphocytic leukaemia.

We report a polymerase chain reaction (PCR)-based method for detection of clonal trisomy 12 cell populations in B cell chronic lymphocytic leukaemia which is particularly applicable to retrospective analysis or archival material. The method utilizes three restriction enzyme site polymorphisms linked to the KRAS2 locus on chromosome 12 to monitor allele imbalance resulting from duplication of this chromosome. 21/24 unselected chronic lymphocytic leukaemia cases (88%) were informative for at least one polymorphism and of these, eight (33% of total cases) displayed allelic imbalance consistent with trisomy 12.