The Analysis Of Common Deafness Genes In Deaf Patients Of Mongolian And Han Nationalities In Inner Mongolia

Objective:Based on the analysis of common deafness genes in patients with inherited non-syndromic hearing loss of Mongolian and Han nationalities in Inner Mongolia,a preliminary understanding of the mutational characteristics of deafness genes in Mongolia and Han in this area is possible.Methods: In this study,a total of 148 cases of hereditary non-syndromic deafness in the Autonomous Region of Inner Mongolia were selected,132 of which were deaf in Han and 16 in Mongolia.The peripheral venous blood was collected from these patients.With the Fifteen Deafness-Related Gene Mutations Detection Kit,the 15 mutation sites of the four most common deafness genes were tested(GJB2: c.35 del G,c.176?191del 16,c.235 delC,299?300del AT,SLC26A4: 1174A> T,1226G> A,1229C> T,1975G> C,2027T> A,2168A>G,IVS7-2A> G,IVS15 + 5G> A,mitochondrial DNA12 SrRNA :1494C> T,1555A> G,GJB3: 538C> T).Results: Within the 148 patients with non-syndromic deafness,82 cases carried the kit-related deafness gene,representing 55.41%(82/148)of the tested population.The GJB2 gene showed the highest mutation detection rate in 148 deaf patients,the mutation rate of the GJB2 gene was 27.70%(41/148),and the hotspot mutation was c.235 delC.The mutation rate of the GJB2 gene in the deaf population of the Han nationality was 25.76%(34/132),while it was 43.75%(7/16)in the Mongolian deaf population.GJB2 c.235 delC is a mutation hotspot for deaf people of Han and Mongolian nationalities.The mutation rate of the SLC26A4 gene was 25.00%(37/148).Its mutation detection rate was 21.21%(28/132)in the Han nationality and 56.25%(9/16)in the Mongolian nationality.Among the patients of Han nationality,5patients carried the GJB3 gene with a mutation detection rate of 3.79%(5/132)and only 1patient carried the mitochondrial DNA 12 SrRNA gene with a mutation detection rate of0.76%(1/132).In Mongolian deaf patients,no mutations were detected in GJB3 and mitochondrial DNA 12 SrRNA-related sites.Conclusion: There are some differences in the gene mutation between the inherited non-syndromic deaf population of Han and Mongolian nationalities.The mutations in the GJB2 gene and the SLC26A4 gene were detected in deaf patients in both ethnic groups.In the deaf Han population,the detection rate of the GJB2 gene mutation was the highest,followed by the SLC26A4 gene,GJB3 gene,and the mitochondrial DNA12 SrRNA gene.In the deaf Mongolian population,the detection rates of mutations in the GJB2 gene and the SLC26A4 gene differed only slightly,but the number of SLC26A4 gene carriers was greater than that of the GJB2 gene.GJB2 c.235 delC is a hotspot mutation among the Han and Mongolian deaf population.