Analysis of the results of the deafness gene in 52 deaf children from special school in Hubei province

WANG Hong-mei; LI Bin; ZHOU Jiao

doi:10.11852/zgetbjzz2018-0475

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Chinese Journal of Child Health Care ›› 2019, Vol. 27 ›› Issue (2) : 190-193. DOI: 10.11852/zgetbjzz2018-0475

Analysis of the results of the deafness gene in 52 deaf children from special school in Hubei province

WANG Hong-mei¹, LI Bin², ZHOU Jiao³

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Abstract

Objective To screen 13 sites of the genes GJB2, GJB3, SLC26A4 and mitochondrial DNA(mtDNA) susceptible to deafness in deaf children from a special school, and to compare with hearing normal children, in order to know about the mutation gene and sites. Methods The peripheral blood of 52 deaf children and 1 131 children with normal hearing were collected, and genomic DNA was extracted from March to September 2017.And 13 mutation sites of GJB2, SLC26A4, mtDNA and GJB3 genes were detected by using the hereditary deafness gene chip detection kit. Results Totally 18(34.63%) mutation carriers were detected in 52 deaf patients who carried different mutation genes.And 13 cases with GJB2 gene mutations(25.00％),including 3(5.77%) cases of homozygous mutation,6(11.54%) cases of single heterozygous mutation and 4(7.69%) cases of complex heterozygous mutation.Also,3(5.77％) cases with SLC26A4 gene mutations, including 2 (3.85%) cases of homozygous mutation and 1 (1.92%) cases of single heterozygous mutation.And 2 cases with mtDNA gene mutations(3.85%), which were 1555A>G homogenous mutations.No GJB3 gene mutation was detected.Finally 125 (11.05%) mutation carriers were detected carrying different mutated genes in 1 131 children with normal hearing, of whom 79(6.99%) cases with GJB2 gene mutations,35(3.09%)cases with SLC26A4 gene mutations,11 cases with mtDNA gene mutations(0.97%).No GJB3 gene mutation was detected.There were significant differences on gene distribution between deaf children and normal children(χ²=25.98, P<0.001). Conclusions The hotspot gene of deafness mutation mainly are GJB2 and SLC26A4 in this special school, and GJB2 235delC(19.23%) is the most common mutation site.And genetic testing of deafness provides evidence for reducing birth defects.

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deafness / gene / mutation

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WANG Hong-mei, LI Bin, ZHOU Jiao. Analysis of the results of the deafness gene in 52 deaf children from special school in Hubei province[J]. Chinese Journal of Child Health Care. 2019, 27(2): 190-193 https://doi.org/10.11852/zgetbjzz2018-0475

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