ChangZhi District 19113 Cases Of Neonatal Deafness Gene Detection
LI Xiaoze
MA Weiping
HU Zhipeng
YAO Zerong
WEI Wei
Abstract：Objective 19113 newborns with deafness gene chip testing whether there is a Chinese com-mon deafness gene abnormality.Methods Gathering on June 6, 2013- December 19113 infants born within their respective jurisdictions of changzhi city heel blood and extract DNA, application of deafness gene chip to detect nine four common deafness gene mutations, including GJB2 (35 del G, 176 _191del del 16235 C, 299_300 del AT), GJB3 (538 C>T), SLC26A4 (IVS, 7-2 A>G 2168 A>G) and mitochondrial DNA 12 s rRNA (1555 A>G, 1494 C>T).The basic information of 19113 newborns were investigated, including audi-ology examination.Results 19113 infants were detected deafness gene was abnormal in 984 (5.15%), hybrid GJB2 gene mutations among 437 cases (2.29%), 235 de1c homozygous mutations in 2 cases (0.01%), 12 s rRNA mitochondrial DNA mutation in 66 cases (0.35%), hybrid SLC26A4 gene mutation type 395 cases (2.07%), hybrid GJB3 gene mutation in 62 cases (0.32%), double heterozygous mutations in 22 cases (0.12%). Conclusions Changzhi region newborn common deafness gene mutation is given priority to with GJB2 gene mutations, SLC26A4 gene mutations.Gene mutation rate in the majority with city, changzhi county and xiangyuan county, neonatal deafness gene screening of drug-induced deafness, PDS syndrome detecting a late-onset deafness hearing screening cannot be detected.
Keywords：The newbornDeafness genesMutationGene chip
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( 654-657 )