Article
A novel method for detecting nine hotspot mutations of deafness genes in one tube.
Scientific reports - 3 Jan 2024
Yu Yang, Zhang Jun, Zhan Yuxia, Luo Guanghua
Abstract excerpt
Deafness is a common sensory disorder. In China, approximately 70% of hereditary deafness originates from four common deafness-causing genes: GJB2, SLC26A4, GJB3, and MT-RNR1. A single-tube rapid detection method based on 2D-PCR technology was established for nine mutation sites in the aforementioned genes, and Sanger sequencing was used to verify its reliability and accuracy. The frequency of hotspot mutations...
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