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.%PCR技术给血液病的诊断带来了革命性的进展,已经成为临床急性和慢性白血病基因分型,骨髓增殖性疾病确诊,海洋性贫血、血友病等多种血液遗传病的诊断不可或缺的基本技术.在PCR基础上,已经发展了包括多重巢式PCR、荧光实时定量PCR(Q-PCR)、变性高压液相色谱分析(DHPLC)、毛细管电泳、分子杂交和直接测序等方法.多重巢式PCR可检测多种白血病基因,确定白血病的类型.Q-PCR有效地解决了PCR污染的问题,可以监测白血病微小残留病.毛细管电泳法更适于基因片段长度有变化的基因突变.DHPLC适用于大批量标本的突变筛查.PCR产物的直接测序可靠性强,已经用于常规诊断.
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