新一代高通量测序技术——检验医学发展的挑战与机遇  

High throughput-next generation sequencing technology——the challenges and opportunities for laboratory medicine

作　　者：郑磊[1] 熊铁[1] 王前[1] 

机构地区：[1]南方医科大学南方医院检验医学科临床分子诊断中心临床快速检验实验室,广东广州510515

出　　处：《分子诊断与治疗杂志》2011年第6期361-367,共7页Journal of Molecular Diagnostics and Therapy

摘　　要：基因突变以及碱基修饰等可以导致相关疾病的发生发展。个体的基因型也影响个人罹患相关疾病的风险和药物代谢率。随着数据的积累,越来越多与疾病相关的基因突变被发现,DNA测序在疾病预测、诊断、个体化用药等方面显得日益重要。测序技术在短短的数十年间,取得了惊人的进步,从Sanger法为代表的第一代测序技术发展到了第三代高通量测序技术。在个体化用药、遗传病、肿瘤、产前诊断以及微生物的鉴定等领域,高通量测序技术显示出强大的功能,部分传统检验项目有可能被测序技术所取代,高通量测序技术给检验医学学科建设带来了新的契机,使得检验医学发展更加全面和深入。Gene mutations or modification can cause related diseases. Personal genotypes also affect their health prediction and medicine metabolism. Along with the accumulation of the knowledge of the correlation between genotype or gene mutations and personal health situation, DNA sequencing technology is showing its importance in disease diagnosis, personalized medicine and other related fields. In the past decades, sequencing technology experienced revolutionary development： from first generation, Sanger＇s technology, to the third generation, high throughput DNA sequencing technology. In the diagnosis of tumor, personalized medicine, genetics diseases and microbiology, even prenatal diagnosis, high throughput sequencing technology demonstrates its powerful capability and necessity. Some traditional laboratory tests may be replaced by sequencing technology in coming years. Furthermore, high throughput sequencing technology will bring fascinating opportunities for laboratory medicine, which will help laboratory medicine develop further.

关 键 词：高通量测序技术 检验医学 诊断 

分 类 号：R440[医药卫生—诊断学]