Screening And Analysis Of Common Mutations In Patients With Severe Hearing Loss

Objective:1.the sensitive deafness gene diagnostic kit(PCR+Flow-through hybridization method)of extremely severe deafness patients for detecting genetic,Investigating the prevalence and types of common genetic mutations in children with profound sensory deafness.2.Through Meaningful Auditory In.Tegration Scale(MAIS)?Categories of Auditory Perform ance(CAP)and Speech Intelligibility R ating(SIR)on cochlear deafness patients respectively after implantation after 3 months,6 months and 1 year to evaluate speech recovery effects,investigating the correlation between the phenotype of gene mutation and the effect of cochlear implantation.Methods:1.Select 105 patients with extremely severe feeling tone deaf,88 lost their hearing before learning to speak,language deaf after 17 cases.Use in patients with peripheral blood,use the sensitive deafness gene diagnostic kit(PCR +Flow-through hybridization method)the GJB2,SLC26A4 and A1555 G,C1494T locus mutation testing.2?Through Meaningful Auditory In.Tegration Scale(MAIS)?Categories of Auditory Perform ance(CAP)and Speech Intelligibility R ating(SIR)on Lines both deafness gene detection and unilateral cochlear implanted in 96 patients respectively after implantation after 3 months,6 months and 1 year to evaluate speech recovery effects.Result : 1.Genetic mutations had been identified in 25(23.81%)of the 105 children.GJB2 mutations were detected in 14 of the 105 patients(13.33%).11cases(10.48%)had SLC26A4 mutation.1cases(0.95%)had12sr RNA1555 Gmutation.1cases(0.95%)had12sr RNAC1494 Tmutation.2.CAP evaluation results showed that after 3 months,the control group,the levels of GJB2,SLC26A4 group were 1.14±0.350?1.10±0.316?1.14±0.378,There was no statistically significant difference is compared between two groups(P > 0.05);In June,after the level of the control group,the GJB2,SLC26A4 group were3.24±0.547?3.70±0.823?2.43±0.535,Among them,the GJB2 group compared with control group difference has no statistically significant(P >0.05);SLC26A4 group compared with control group difference was statistically significant(P < 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);After 12 months,the level of the control group,the GJB2,SLC26A4 group were 4.55±0.807 ?5.30±0.675?3.86±0.900,GJB2 group compared with control group difference was statistically significant(P < 0.05);GJB2 group compared with SLC26A4 group(P < 0.05);SLC26A4 group there was no statistically significant difference compared with control group(P > 0.05)? SIR: according to postoperative 3 months,the control group,the levels of GJB2,SLC26A4 group were1.00±0.000?1.00±0.000?1.00±0.000,Comparison between the two groups had no statistical significance;In June,after the level of the control group,the GJB2,SLC26A4 group were 1.34±0.476?2.00±0.816?1.29±0.488,GJB2 group compared with control group difference was statistically significant(P < 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);SLC26A4 group there was no statistically significant difference compared with control group(P > 0.05);fter 12 months,the level of the control group,the GJB2,SLC26A4 group were2.25±0.579?3.00±0.667?2.29±0.488,GJB2 group compared with control group difference was statistically significant(P < 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);SLC26A4 group there was statistically significant difference compared with control group(P < 0.05)? MAIS evaluation results showed that after 3 months,the control group,GJB2,SLC26A4 group scores respectively 26.07±3.603?27.00±1.414?21.00±1.633,GJB2 group there was no statistically significant difference compared with control group(P > 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);SLC26A4 group compared with control group difference was statistically significant(P < 0.05);In June,after the control group,GJB2,SLC26A4 group scores were28.25±3.710?29.80±1.932?24.00±3.266,GJB2 group there was no statistically significant difference compared with control group(P > 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);SLC26A4 group compared with control group difference was statistically significant(P < 0.05);After 12 months,the control group,the GJB2,SLC26A4 group score were31.23±3.708?34.00±2.309?26.00±3.162,GJB2 group compared with control group difference was statistically significant(P < 0.05);GJB2 group compared with SLC26A4 group difference was statistically significant(P < 0.05);SLC26A4 group compared with control group difference was statistically significant(P < 0.05).Conclusion:1.GJB2,SLC26A4 and 12 sr RNA are common mutations in patients with deafness,the rate of GJB2 mutation is 13.33%,the mutation rate of SLC26A4 is 10.48%,and the mutation rate of 12 sr RNA is 1.90%;2.GJB2 gene mutation in patients with deafness after cochlear implantation is better than SLC26A4 gene and non gene mutation related deafness.