遗传性耳聋分子诊断及梯级检测策略应用
收稿日期: 2022-09-22
修回日期: 2022-10-29
网络出版日期: 2022-11-04
基金资助
郑州市协同创新项目(18XTZX12004);河南省医学科技攻关计划联合共建项目(LHGJ20190317)
Molecular diagnosis of hereditary deafness and application of stepwise testing strategy
Received date: 2022-09-22
Revised date: 2022-10-29
Online published: 2022-11-04
Supported by
Supported by the Collaborative Innovation Project of Zhengzhou No(18XTZX12004);the Joint Project of Medical Science and Technology Research in Henan Province No(LHGJ20190317)
曾焙枰, 许红恩, 毛璐, 汤文学 . 遗传性耳聋分子诊断及梯级检测策略应用[J]. 遗传, 2023 , 45(1) : 29 -41 . DOI: 10.16288/j.yczz.22-206
Hereditary deafness is one of the most common sensory disorders in humans, and exhibits high genetic heterogeneity. At present, the commonly used molecular diagnostic methods include gene chip, Sanger sequencing, targeted enrichment sequencing, and whole-exome sequencing, with diagnosis rates reaching 33.5%-56.67%. However, there are still a considerable number of patients who can not get a timely and definitive molecular diagnosis. Furthermore, considering the economic burden on patients’ families and the relatively high cost of whole-exome or whole-genome sequencing, it is vital to provide stepwise strategies combining multiple detection methods according to the phenotypes of patients. In this review, we evaluate and discuss the utility of molecular diagnosis and the application of stepwise testing strategies in hereditary deafness to provide reference for the selection of diagnostic strategies.
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