Analysis Of Taperin In Chinese With Nonsydromic Hearing Impairment

ObjectiveIn order to explore the characteristic of the mutation of TPRN (Taperin) in Chinese with Nonsydromic hearing impairment, Gene chip and DNA sequencing methods were applied to test the mutations of127severe sensorineural deaf cases and50normal people.Methods127patients with severe sensorineural deafness and50normal hearing cases were used in this study. Their genomic DNA samples were extracted from peripheral blood, and detected with the DNA microarray. Once the common mutations were eliminated, then DNA sequencing method was applied to test the mutation of four exons of TPRN. All sequencing results were analyzed by the DNAstar software.ResultsIn127patients with severe sensorineural deafness and50normal people,27common genetic mutations were found by gene chips, and the remaining100patients and50normal people were tested by the DNA sequencing method. The mutations of P230H, S241T, S269N were found in one patient, and the last two amino acid were located in conservative amino acid sequence by analysis of homology.ConclusionsThe rate of mutation of Taperin gene is0.78%in patients with severe sensorineural deafness. Taperin gene contains4exons which were suitable to be tested by DNA sequencing method. In this study, the mutations of Taperin were found may be one of the important factors of the deafness.