Research The Common Genes Mutation Of Patients With Non-syndromic Deafness In Guangxi Zhuang Autonomous Region

Objective: To investigate the value in molecular diagnosis of four common susceptive genes related hearing loss in the patients with non-syndrome hearing loss in Guangxi Zhuang Autonomous region,by detecting the mutation hot spots and frequency of common deafness genes,analysis the characteristics of deafness genes mutation from non-syndromic hearing loss patients in Guangxi region,in order to provide reference for clinical diagnosis and genetic counseling.Method:A total of 219 subjects(158 non-syndromic hearing loss and 61 family relatives)were recruited from Department of Otolaryngology,the People’s Hospital of Guangxi Zhuang Autonomous Region and three special educational schools in Du’an、Fusui、Wuming in Guangxi province.All patients were after medical history collection,audiological examination,imaging examination and diagnosed as non-syndromic hearing loss,including 120 cases of Zhuang and 38 cases of Han nationality;prelingual deafness in 154 cases,postlingual deafness in 4 cases;3 cases of moderate hearing loss,severe hearing loss in 2 cases,extremely severe hearing loss in 153 cases;the family history of deafness 22 cases.Their genomic DNA were extracted from peripheral blood and PCR was performed.Applicate Deafness-related gene mutations detection kit to detect 15 mutation sites in four deafness-associated genes GJB2、SLC26A4、mitochondrial 12 S rRNA and GJB3.The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations.Result:1.Among the 158 patients with non-syndromic deafness,the total mutation rate is 9.49%(15/158);GJB2 mutation in 10 cases(6.33%,10/158),including GJB2 235 delC homozygous in 3 cases(1.90%,3/158),235 delC single heterozygous mutation in 5 cases(3.16%,5/158),GJB2 235delC/109 A>G mutations in 2 cases(1.27%,2/158);SLC26A4 mutation in 4 cases(2.53%,4/158),SLC26A4 1229C>T homozygous in 1 case(0.63%,1/158),IVS7-2A>G single heterozygous mutation in 1 case(0.63%,1/158),IVS7-2A>G/IVS11+47T﹥C /1548 insC mutations in 2 cases(1.27%,2/158);GJB3 538C>T single heterozygous mutation in 1 case(0.63%,1/158),mitochondrial 12 S rRNA gene mutations were not detected.2.The mutation rate of 120 Zhuang patients with non-syndromic hearing loss was 9.17%(11/120),including GJB2 mutations in 7 cases(5.83%,7/120),SLC26A4 mutations in 3 cases(2.50%,3/120),GJB3 mutations in 1 cases(0.83%,1/120).3.The mutation rate of 38 Han patients with non-syndromic hearing loss was 10.53%(4/38),including GJB2 mutations in 3 cases(7.89%,3/38),SLC26A4 mutations in 1 cases(2.63%,1/38).There is no significant difference between Zhuang and Han patients in Guangxi.4.Among the 22 patients with family history,there were 7 mutation carriers(31.82%,7/22);GJB2 mutations in 5 cases(22.73%,5/22),including 235 delC homozygous in 1 case,single heterozygous mutation in 2 cases,GJB2 235delC/109 A>G mutations in 2 cases;SLC26A4 mutations in 2 cases,including IVS7-2A>G single heterozygous mutation in 1 case,1229C>T homozygous mutations in 1 case.Conclusion:1.The result indicates that the mutation rate of common deafness genes in patients with non-syndrome deafness in Guangxi Zhuang population were significantly lower than the national average level,and GJB2 235 delC may be the main mutation in this region,the mutation rate of 12 S rRNA and GJB3 is very low,there may be any different mutations among sites or genes caused deafness in this region,it need further research.2.There is no significant difference between Zhuang and Han patients with non-syndromic hearing impairment in Guangxi.3.The mutation spots of SLC26A4 gene were diversities,whether it has pathogenic and whether there are differences with other regions need to be confirmed by further research.