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[外显子组测序在遗传性眼病研究中的应用]

[Exome sequencing in the research of genetic eye diseases].

作者信息

Zhou Xueying, Yu Zhiqiang

机构信息

Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Key Laboratory of Health Ministry for Myopia, Shanghai 200031, China.

Department of Ophthalmology, Eye and ENT Hospital, Fudan University, Key Laboratory of Health Ministry for Myopia, Shanghai 200031, China; Email:

出版信息

Zhonghua Yan Ke Za Zhi. 2015 May;51(5):395-400.

Abstract

There are a variety of genetic eye diseases. In the past years, many methods such as linkage analysis and association analysis have been used to study these diseases and lots of achievements have been made. With the development of the second-generation sequencing technology, DNA sequencing has become much more efficient and cheaper. Exome trapping, combining with the second-generation sequencing technology, has become efficient and accurate means to sequence DNA and screen disease-causing genes. This review outlines the research progresses in eye inherited diseases, the methodological characteristics of second-generation sequencing and exome trapping and their applications in genetic eye diseases.

摘要

存在多种遗传性眼病。在过去几年中,诸如连锁分析和关联分析等许多方法已被用于研究这些疾病,并取得了很多成果。随着第二代测序技术的发展,DNA测序变得更加高效且成本更低。外显子捕获与第二代测序技术相结合,已成为对DNA进行测序和筛选致病基因的高效且准确的手段。本综述概述了眼部遗传性疾病的研究进展、第二代测序和外显子捕获的方法学特点及其在遗传性眼病中的应用。

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