分子诊断技术在临床疾病中的应用进展

过去20年，临床分子诊断技术取得了飞跃式的发展，它已成为临床检验医学学科中最具发展潜力的领域。尤其是随着基因组学的深入研究，临床分子诊断方法已在更深层次揭示临床疾病的本质，从而指导临床诊断和治疗，许多临床分子诊断项目已成为国内外医疗机构的常规项目，广泛应用于临床各科。当前，应用于临床实验室分子检测的生物学技术主要包括核酸杂交、核酸扩增及 DNA 序列分析等。本文就分子诊断技术在感染性疾病、肿瘤和遗传病领域应用进展进行述评。

Advances of Molecular Diagnostic Techniques Application in Clinical Diagnosis

Over the past 20 years, clinical molecular diagnostic technology has made rapid development, and became the most promising field in clinical laboratory medicine. In particular, with the development of genomics, clinical molecular diagnostic methods will reveal the nature of clinical diseases in a deeper level, thus guiding the clinical diagnosis and treatments. Many molecular diagnostic projects have been routinely applied in clinical works. This paper reviews the advances on application of clinical diagnostic techniques in infectious disease, tumor and genetic disorders, including nucleic acid amplification, biochip, next-generation sequencing, and automation molecular system, and so on.