基因诊断(gene diagnosis)是以探测基因的存在,分析基因的类型和缺陷及其表达功能是否正常,从而达到诊断疾病的一种方法。其是继形态学、生物化学和免疫学诊断之后的第四代诊断技术,其诞生与发展得益于分子生物学理论和技术的迅速发展。常用基因诊断技术包括:Southern印迹法、聚合酶链反应(PCR)、扩增片段长度多态性(Amp-FLP)连锁分析法、等位基因特异寡核苷酸探针(ASO)诊断法、单链构象 Gene diagnosis is to detect the presence of genes, analysis of gene types and defects and their expression is normal, so as to achieve a diagnosis of disease. It is the fourth generation of diagnostic technology after morphological, biochemical and immunological diagnosis. Its birth and development have benefited from the rapid development of molecular biology theory and technology. Commonly used gene diagnostic techniques include: Southern blotting, polymerase chain reaction (PCR), Amp-FLP linkage analysis, allele-specific oligonucleotide probe (ASO) Single strand conformation