基因诊断中测序技术的应用及优缺点

doi:10.3724/SP.J.1005.2014.1121

遗传 ›› 2014, Vol. 36 ›› Issue (11): 1121-1130.doi: 10.3724/SP.J.1005.2014.1121

基因诊断中测序技术的应用及优缺点

郭奕斌

中山大学中山医学院医学遗传学教研室,广州 510080

收稿日期:2014-08-27 出版日期:2014-11-20 发布日期:2014-10-28
作者简介:郭奕斌,副教授,硕士生导师,研究方向：遗传性骨病的分子诊断及产前/植入前基因诊断。
基金资助:
国家自然科学基金项目(编号：30772069)和闽粤横向科研基金项目(编号：71010025)资助

Sequencing technology in gene diagnosis and its application

Yibin Guo

Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China

Received:2014-08-27 Online:2014-11-20 Published:2014-10-28

摘要/Abstract

摘要： 基因突变是当今生命科学研究的热点之一,其检测方法和诊断技术发展迅猛。测序技术在基因病的确诊、分型等方面发挥着不可或缺的作用。文章重点围绕第一~三代测序技术的研究进展、优缺点及其在基因诊断中的应用进行评述 ,并对未来的发展趋势进行了预测和展望。

关键词: 基因病, 基因诊断, 测序技术, 研究进展

Abstract: The study of gene mutation is one of the hot topics in the field of life science nowadays, and the related detection methods and diagnostic technology have been developed rapidly. Sequencing technology plays an indispensable role in the definite diagnosis and classification of genetic diseases. In this review, we summarize the research progress in sequencing technology, evaluate the advantages and disadvantages of 1^st ~3^rd generation of sequencing technology, and describe its application in gene diagnosis. Also we made forecasts and prospects on its development trend.

Key words: genetic disease, gene diagnosis, sequencing technology, application

郭奕斌. 基因诊断中测序技术的应用及优缺点[J]. 遗传, 2014, 36(11): 1121-1130.

Yibin Guo. Sequencing technology in gene diagnosis and its application[J]. HEREDITAS(Beijing), 2014, 36(11): 1121-1130.

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Sequencing technology in gene diagnosis and its application

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