Analysis Of Common Deaf Genes Among Deaf Children With The Implantation Of Cochlear

Objectives: To analyze the carrying status of congenital deaf genes among deaf childrenthat have received the implantation of cochlear and obtain epidemiological data about deafgene mutation screening in the partial region of the western part of China.Methods: Among patients with hearing impairment who had received the implantation ofcochlear in the Lanzhou general hospital of Lanzhou military district, analysis ofcongenital deaf gene were carried out by using the gene chip to detect the nine mutationsof the four common deaf genes in our country, which include: GJB2（35delG,176del16bp,235delC and299₃00delAT）, GJB3（538C＞T）, SLC26A4（IVS7-2A＞G,2168A＞G）,mitochondrial12S rRNA （1555A＞G,1494C＞T）.Results: Across97cases of deaf children that received the analysis of deaf genes:（1）three patients was found to have a familiy history, and the deaf genes mutations that theycarried were homozygous mutant of235delC on GJB2, homozygous mutant of1494C＞Ton mitochondrial12S rRNA and wild type.（2）38patients carried deaf gene mutations, thedetection rate is39.18%. The detection rate of genes mutations of GJB2is20.62%. Thedetection rate of genes mutations of SLC26A4is15.46%and the CT scanning all showeda positive syndrome of enlarged vestibular aqueduct （EVAS）. The detection rate of genesmutations of mitochondrial12S rRNA is3.09%, and these children also had a history ofototoxic drugs.（3） Among male or female deaf children, there was no distinction of thedetection rate of deaf genes between the Han people and minority groups; Among deafchildren of Han people or minority goups, there was no distinction of the detection rate ofdeaf genes between male and female patients; the total detection rate of deaf genes and thedetection rate of deaf genes mutations of SLC26A4in minority people was higher thanthat in the Han people. There was no statistical significance of the detection rate of deafgenes mutations of GJB2between the Han people and minority groups or between theprelingual deafness patients and the postlingual deafness patients. The detection rate ofgenes mutations of SLC26A4were higher in the postlingual deafness patients than that inthe prelingual deafness patients. Conclusions:1. Across97cases that received the examination of common congenital deafgenes,39.18%positively carried deaf gene mutations. Mutations of GJB2are the mostpopular congenital deaf gene, which had a carrying rate of20.62%, mutations of SLC6A4took the second place with a carrying rate of15.46%. Our results are in line with moststudies that carried out in our country;2. Across97cases of deaf children, no difference ofthe detection rate of deaf genes was detected between the Han people and minority groupsin male or female patients; no difference of the detection rate of deaf genes was detectedbetween females and males in the Han people or the minority groups; the detection rate ofdeaf genes in minority groups was higher than that in the Han people; no difference wasdetected in the detection rate of deaf genes of GJB2between the Han people and theminority groups, the detection rate of SLC26A4was higher in the minority people than inthe Han people; the detection rate of deaf genes of SLC26A4was higer in the postlingualdeafness patients than that in the prelingual deafness patients.3. Gene chip analysis is avalidated method for detection of deaf genes and could be applied broadly in clinicalpractice, thus make a molecular diagnosis for the patients.