Genetic Mutations Among Patients From a Deaf-mute School in Qinhuangdao
ZHANG Hua
ZHANG Haoyu
ZHANG Weixia
ZHU Junzhen
Abstract：Objective To investigate mutation of common deafness genes in the Qinhuangdao area. Methods Four genes (GJB2, GJB3, SLC26A4 and 12SrRNA, 20 sites) commonly associated with deafness in China were tested via time of flight mass spectrometry. Results Among the 46 patients tested, 23 (50%) were found to have deafness gene muta-tions with 8 homozygotes (17.39%), 6 compound heterozygotes (13.04%) and 9 heterozygotes (19.57%). Conclusions The rate of deafness gene carrier is high among deaf-mute school students in Qinhuangdao, showing mostly homozy-gous or compound heterozygous mutations. Genetic testing, thorough, careful and accurate genetic counseling, and ef-fective intervention are the key to reducing incidence of hereditary deafness.
Keywords：Hereditary DeafnessGJB2 GeneSLC26A4 GeneMitochondrial DNAMutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 310-313 )