高通量测序技术在生殖遗传学检测中的应用

doi:10.3969/j.issn.1674-490X.2018.01.009

医学研究与教育 ›› 2018, Vol. 35 ›› Issue (1): 46-50.DOI: 10.3969/j.issn.1674-490X.2018.01.009

高通量测序技术在生殖遗传学检测中的应用

赵鹏辉¹,赵峥辉²,刘宣辰³,田园³,葛少钦^1,4,5

1.河北大学中医学院, 河北保定 071000;
2.中国科学院动物研究所干细胞与生殖生物学国家重点实验室, 北京 10000;
3.河北大学医学院, 河北保定 071000;
4.河北大学生殖医学研究所, 河北保定 071000;
5.河北大学附属医院生殖医学科, 河北保定 071000

收稿日期:2017-10-02 出版日期:2018-02-25 发布日期:2018-02-25
通讯作者: 葛少钦(1967—),男,河北保定人,教授,博士,主要从事生殖医学、动物分子与生化研究。E-mail: gesq67@163.com
作者简介:赵鹏辉(1996—),女,河北秦皇岛人。

Received:2017-10-02 Online:2018-02-25 Published:2018-02-25

摘要/Abstract

摘要： 近年来,高通量测序技术因其效率高、成本低、特异性好等优势被广泛用于临床医学研究中,在无创产前检测、胚胎植入前遗传学诊断与筛查以及表观遗传学研究中DNA甲基化位点的检测等生殖遗传学领域发挥重要作用。概述目前主要测序平台的原理及特点,系统介绍其在生殖遗传学领域的应用,以期为高通量测序技术在精准医学研究中的广泛应用提供理论指导。

关键词: 高通量测序技术, 无创产前检测, 胚胎植入前遗传学诊断与筛查, DNA甲基化

Abstract: Recently,high-throughput sequencing technology has been widely applied in clinical research owing to its high efficiency,low cost and good specificity.This technology plays a key role in the field of reproductive genetic testing such as noninvasive prenatal testing,pre-implantation genetic diagnosis and screening as well as the detection of DNA methylation.This review mainly summarizes the principles and features of the main sequencing platforms,providing a theoretical direction for their applications in the research of precision medicine.

Key words: high-throughput sequencing technology, noninvasive prenatal testing, pre-implantation genetic diagnosis and screening, DNA methylation

中图分类号:

赵鹏辉,赵峥辉,刘宣辰,田园,葛少钦. 高通量测序技术在生殖遗传学检测中的应用[J]. 医学研究与教育, 2018, 35(1): 46-50.

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高通量测序技术在生殖遗传学检测中的应用

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