The use of the polymerase chain reaction in haematology

The polymerase chain reaction (PCR) has rapidly become an invaluable technique for the detection, molecular characterisation and clinical management of a wide variety of haematological disorders. PCR provides a rapid method for the generation of large quantities of relatively pure DNA sequences of interest. This has facilitated nucleotide sequence analysis in both normal and pathological haemopoietic populations and has consequently aided the characterisation of normal molecular organisation and of inherited and acquired genetic defects. PCR amplification has enabled the rapid detection of mutant or polymorphic alleles using allele-specific oligonucleotide probes, aiding both antenatal diagnosis and large scale population screening. The extreme sensitivity of detection of rare genetic events has greatly improved the ability to detect minimal residual malignancy and low levels of viral infection. This article describes the theory and practical aspects of PCR gene amplification and reviews its scientific and clinical applications in haematology.