Abstract

Polymerase chain reaction (PCR) technique for the diagnosis of hematological disease brought about revolutionary progress. It has become indispensable and basic technology for genotyping of acute and chronic leukemia and diagnosis of myeloproliferative disorders, thalassemia, hemophilia and other genetic diseases. Based on the PCR technology, multiple nested-PCR, real-time fluorescence quantitative PCR (Q-PCR), denaturing high pressure liquid chromatography (DHPLC), capillary electrophoresis, the molecular hybridization and directly sequencing technique have been developed. The multip]e nested-PCR can be used to examine a variety of leukemia genes and confirm the type of leukemia. The application of Q-PCR has effectively solved the problem of pollution of the PCR and it can be used to monitor minimal residual disease of leukemia. Capillary electrophoresis is more suitable for gene fragment length change. DHPLC can be applied for high-throughput screening of gene mutation. Sequencing is a reliable method and it has been used for routine diagnosis. Key words: Hematologic diseases; Polymerase chain reaction

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