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基因诊断技术是传统诊断技术的一个有效补充，其可以在基因水平上对疾病进行预测、防治和诊断。其主要通过分子生物学方法对患者体内的遗传物质结构和表达水平进行检测，对相应的基因进行突变分析，以达到诊断特定疾病的目的。目前基因诊断技术已在临床多个领域广泛应用。该文就目前基因诊断中常用的分子生物学技术原理和特点进行概述，并详细介绍基因诊断技术在遗传性疾病、感染性疾病、癌症和血液病中的临床应用情况。“,”Gene diagnosis technique is an effective supplement to the traditional diagnosis technology, which can predict, prevent and diagnose diseases on gene level. Gene diagnosis technique uses molecular biological methods to detect the structure and expression levels of genetic material, and analyze the corre-sponding gene mutation,in order to achieve the diagnosis of specific diseases. At present,gene diagnosis tech-nology has been widely used in clinical fields. Here summarizes the present principles and characteristics of molecular biology techniques used in gene diagnosis,and introduces the clinical application of gene diagnosis in genetic diseases,infectious diseases,cancer and blood diseases.