高通量测序技术在常见遗传性疾病中的应用进展  

Application of high-throughput sequencing technology in common hereditary diseases

作　　者：周秉博 郝胜菊[1] 闫有圣[1] 冯喧 刘芙蓉[1] 蒋小慧 

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2017年第11期1-3,72,共4页Chinese Journal of Birth Health & Heredity

摘　　要：自从英国生物学家Sanger建立了一代测序技术以来,经过三十年来风雨兼程的发展,DNA测序技术不断蓬勃发展,尤其是近年来相继而来的商业化比较成熟的二代测序技术,包括以Roche公司的454测序技术、Illumina公司的Solexa技术和ABI公司的SOLi D技术。以其速度快、准确率高、成本低等优点逐步替代了Sanger测序技术。但是,二代测序也有一定的局限性,读长相对较短,对后续的生物信息分析带来很大的问题。所以,就有了第三代测序技术的诞生,此技术是采用单分子读取技术,比二代测序数据读取速度快,其最大的特点是读长更长,同时还省略了PCR步骤,更降低了测序的成本。本文主要是介绍了高通量测序技术,并对常见的三种测序技术进行了简单的比较,以及在高通量测序技术在肿瘤基因方面、无创产前基因检测方面和遗传性耳聋基因检测方面的应用进行了探讨。Since the British biologist Sanger established a generation of sequencing technology,after 30 years of wind and rain development,DNA sequencing technology continues to flourish,especially in recent years have come from the commercialization of more mature second-generation sequencing technology,including Roche The company′s 454 sequencing technology,Illumina′s Solexa technology and ABI′s SOLi D technology. With its speed,high accuracy,low cost and other advantages of the gradual replacement of the Sanger sequencing technology. However,the second generation of sequencing also has some limitations,read length is relatively short,the follow-up of biological information analysis brings a lot of problems. So,there is a third generation of sequencing technology,this technology is the use of single-molecule read technology,faster than the second generation of sequencing data read speed,its biggest feature is to read longer,but also omitted the PCR step,But also reduces the cost of sequencing. In this paper,we introduce the high-throughput sequencing technology,and compare the three common sequencing techniques,as well as the high-throughput sequencing technology in tumor gene,noninvasive prenatal gene detection and genetic deafness gene detection The application was discussed.

关 键 词：高通量测序 二代测序 产前基因检测 耳聋基因检测 

分 类 号：R596[医药卫生—内科学]