Analysis Of The Deafness Gene Mutation Of SLC26A4 From Deafness Patients In Guangxi Region

Objective:To investigate the characteristics of SLC26A4 genes related hearing loss in the patients in Guangxi Zhuang Autonomous region,by detecting the mutation hot spots of common deafness genes,in order to provide reference for clinical diagnosis and genetic counseling.Method:A total of 310 subjects were recruited from Department of Otolaryngology(40 failed to pass newborn hearing screening and 137 sudden hearing loss),43 cases of artificialcochlear implantation,and 90 cases from three special educational schools in Du'an ? Fusui ? Wuming in Guangxi province.Including 194 men and 116 women;Zhuang 167,Han 127 and Yao12;prelingual deafness in 170 cases,postlingual deafness in 140 cases;31cases of moderate hearing loss,severe hearing loss in 24 cases,extremely severe hearing loss in 255 cases;the family history of deafness 44 cases;and43 cases of the unilateral cochlear implant,1 cases of bilateral cochlear implant.Their genomic DNA were extracted from peripheral blood and PCR was performed.Applicate Deafness-related gene mutations detection kit to detect 8 mutation sites in deafness-associated genes SLC26A4.The samples that could not be diagnosed with DNA microarray were subjected to PCR and sequenced to detect other mutations.Result:1.Among the 310 patients,the total mutation rate is 2.90%(9/310);including IVS7-2A > G heterozygous mutation in 4 case(1.29%,2/230),1229C>T homozygous in 1 case(0.32%,1/310),1229C>T heterozygous in 1 case(0.32%,1/310),IVS7-2A>G/IVS11+47T?C /1548 insC mutations in 2 cases(0.65%,2/310);1226G>A heterozygous mutation in 1 case(0.32%,1/310).2.The mutation rate of 127 Han patients was(3.15%,4/127),including1229 C > T heterozygous mutation in 1 case(0.79%,1/127),1229 C > T homozygous mutation in 1 case(0.79%,1/127),IVS7-2A > G heterozygous mutation in 2 case(1.57%,2/127).The total mutation rate is 2.99%(5/167)in Zhuang,IVS7-2A>G heterozygous mutation in 2 case(1.20%,2/167),IVS7-2A>G/IVS11+47T?C /1548 insC mutations in 2 cases(1.20%,2/167),1226G>A heterozygous mutation in 1 case(0.06%,1/167).There is no significant difference between Zhuang and Han patients in Guangxi.3.The mutation rate of 44 family history of deafness was 6.82%(3/44).4.Among the 90 patients in special educational schools,there were 3mutation carriers(3.33%,3/90),2(4.65%,2/43)in artificial cochlear implantation,2(5%,2/40)in patients who failed to pass newborn hearing screening,not found in patients with sudden deafness.Conclusion:1.The mutation rate of 8 mutation sites in SLC26A4 deafness genes in patients in Guangxi Zhuang population were significantly lower than the national average level,and IVS7-2A>G may be the main mutation in this region.2.There is no significant difference between Zhuang and Han patients in Guangxi.3.The 2 new mutations(IVS11+47T?C and 1548insC)were found,there may be any different mutations among sites or genes caused deafness in this region.