Large Vestibular Aqueduct Syndrome Slc26a4 Gene Mutations In Clinical Studies

Objective:we will analyze the auditory data and genetic characteristics the genetic diagnostic kit of hereditary deafness based on DNA microarray.Methods:61 moderate to profound NSHL patients were included in this study. Their genomic DNA samples were extracted from peripheral blood, and detected with the DNA microarray which is able to perform mutation detection of 2 hot-spot mutations in the most common pathologic genes SLC26A4 (IVS7-2A〉G, 2168A〉G) simultaneously.Results:Of 61 patients,10(16.39%) were found out to be carriers of SLC26A4 pathogenic gene mutation .Among them, IVS7-2A〉G, homozygous mutation in 9cases, compound heterozygous mutation in 1 cases, 2168A〉G heterozygous mutation in 1 cases.Conclusion:In the 61 NSHL patients, the SLC26A4 mutation's quotiety is 16.39%. the result as same as the PLA General Hospital. the genetic diagnostic kit of hereditary deafness based on DNA microarray appears to have some inherent advantages in genetic diagnosis of NSHL, its features of easy manipulation, standardization and popularization endue it perfect prospect in clinical application.