影响RNA剪接的基因变异

doi:10.16288/j.yczz.16-336

遗传 ›› 2017, Vol. 39 ›› Issue (3): 200-207.doi: 10.16288/j.yczz.16-336

影响RNA剪接的基因变异

邹永新(),龚瑶琴()

山东大学实验畸形学教育部重点实验室,山东大学基础医学院医学遗传学系,济南 250012

收稿日期:2016-10-08 修回日期:2016-12-02 出版日期:2017-03-20 发布日期:2016-12-07
作者简介:邹永新,博士,副教授,研究方向：致病基因的分子机制。E-mail: zouyongxin@sdu.edu.cn|龚瑶琴，博士，教授，研究方向：致病基因的克隆及功能研究。E-mail: yxg8@sdu.edu.cn
基金资助:
山东省自然科学基金重点项目(转化医学专题)资助(ZR2015HZ002)

Aberrant RNA splicing as the molecular basis of some pathogenic variants

Zou Yongxin(),Gong Yaoqin()

The Key Laboratory of Experimental Teratology, Ministry of Education and Department of Molecular Medicine and Genetics, Shandong University School of Basic Medical Sciences, Ji?nan 250012, China

Received:2016-10-08 Revised:2016-12-02 Online:2017-03-20 Published:2016-12-07
Supported by:
the Key Program of Shandong Provincial Natural Science Foundation, China(ZR2015HZ002)

摘要/Abstract

摘要：

发现和正确解读疾病相关突变是遗传病分子诊断和临床指导的关键。尽管二代测序技术的应用显著改善了突变检测效率,但解读突变的生物学效应仍然存在挑战。目前对基因检测结果的解读更多地关注突变对蛋白质结构和功能的影响,而忽视了基因变异对RNA剪接的影响。越来越多的证据显示引起RNA剪接异常的基因变异在疾病发生中发挥重要作用。本文对影响RNA剪接的主要突变类型和确认方法进行介绍,以期为准确判断突变的遗传效应提供参考。

关键词: RNA剪接, 基因诊断, 基因突变

Abstract:

Identification and correct classification of disease-associated mutations are essential for molecular diagnosis and clinical management of many genetic disorders. Although next-generation sequencing has greatly accelerated the detection of nucleotide changes, the biological interpretation of most variants has become a real challenge. Moreover, attention is typically paid to protein-coding changes and the potential impact of exonic variants on RNA splicing is often ignored. There is increasing evidence showing that disease-causing aberrant RNA splicing is more widespread than currently appreciated. Here, we review the major types of the variants involved in RNA splicing and the approaches used to identify and characterize these variants. We hope to provide a reference for evaluation of the effects of mutations on diseases.

Key words: RNA splicing, gene diagnosis, gene mutation

邹永新,龚瑶琴. 影响RNA剪接的基因变异[J]. 遗传, 2017, 39(3): 200-207.

Zou Yongxin,Gong Yaoqin. Aberrant RNA splicing as the molecular basis of some pathogenic variants[J]. Hereditas(Beijing), 2017, 39(3): 200-207.

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影响RNA剪接的基因变异

Aberrant RNA splicing as the molecular basis of some pathogenic variants

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