Impact of next-generation sequencing on molecular diagnosis of inherited non-syndromic hearing loss
Xue Gao
Pu Dai
摘要：Hearing loss is one of the most common birth defects, with inherited genetic defects play an important role, contributing to about 60% of deafness occurring in infants. However, hearing impairment is genetically heterogeneous, with both common and rare forms occurring due to mutations in estimated 500 genes. Due to the large number and presumably low mutation frequencies of those genes, it would be highly expensive and time-consuming to address this issue by conventional gene-by-gene Sanger sequencing. Next-generation sequencing is a revo-lutionary technology that allows the simultaneous screening of mutations in a large number of genes. It is cost effective compared to classical strategies of linkage analysis and direct sequencing when the number or size of genes is large, and thus has become a highly efficient strategy for identifying novel causative genes and mutations involved in heritable disease. <br> In this review, we describe major NGS methodologies currently used for genetic disorders and highlight applications of these technologies in studies of molecular diagnosis and the discovery of genes implicated in non-syndromic hearing loss.
机标关键词：hearing lossmolecular diagnosisdirect sequencinglinkage analysiscost effectivebirth defects
资助基金：grants from the Project of the National Natural Science Foundation of China(Grant )grants from the Project of the National Natural Science Foundation of China(30801285)grants from the Project of the National Natural Science Foundation of China(81230020)grants from the Project of the National Natural Science Foundation of China(81200751)grants from the Project of the National Natural Science Foundation of China(81070792)grants from the Project of the National Natural Science Foundation of China(81000415)grants from the Project of the National Natural Science Foundation of China(81360159)grants from China Postdoctoral Science Founda-tion(2012M)grants from China Postdoctoral Science Founda-tion(2013T52187860947)a grant from Minister of Science and Technology of China(2012BAI09B02)
论文发表日期：2014-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：4( 122-125 )
英文信息