Diagnosis of hereditary deafess with GJB2 gene mutations based on TaqMan probe melting curve technology
GAO Hui
LIU Jingjing
SHEN Shanshan
LIANG Shaoming
WEI Lingeng
LI Fangfang
WANG Shayan
Abstract：Objective To establish a quick and reliable TaqMan probe melting curve technology to be used for analyzing the GJB2 gene in patients with non-syndromic hearing impairment (NSHI). Methods Stan-dard samples were prepared to establish the TaqMan probe melting curve technology based on qPCR. Samples were then collected from 138 normal individuals, 113 patients and 2 families with NSHI to test 35delG,176_191del16, 235delC, 299_300delAT mutations of the GJB2 gene using the TaqMan probe melting curve technol-ogy. Test results were verified by direct DNA sequencing. Result Two of the 138 normal individuals, 22 of the 113 NSHI patients and both NSHI families were shown to carry GJB2 gene mutations. All results were consis-tent with those by direct DNA sequencing. Conclusion A quick and reliable TaqMan probe melting curve tech-nology has been established and shown to be capable of detecting 4 mutations of the GJB2 gene.
Keywords：hereditary deafnessTaqMan probemelting curveGJB2 gene
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 541-544 )