收稿日期: 2016-10-08
修回日期: 2016-12-02
网络出版日期: 2016-12-07
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
Received date: 2016-10-08
Revised date: 2016-12-02
Online published: 2016-12-07
Supported by
the Key Program of Shandong Provincial Natural Science Foundation, China(ZR2015HZ002)
邹永新,龚瑶琴 . 影响RNA剪接的基因变异[J]. 遗传, 2017 , 39(3) : 200 -207 . DOI: 10.16288/j.yczz.16-336
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
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