Study Of Rapid Detection Of The Hot Spot Gene Mutations In Patients With Hereditary Hearing Loss By Improved Multiplex Ligation Detection Reaction (iMLDR)

It was the first time to use the iLMDR technology for screening deafness gene mutations all over the world. To identify the application of this technology used to screen hereditary hearing loss,117deafness cases collected from2012to2013were screened by it.Methods:First, We searched the relevant literatures, and then identified30hot mutation sites for deafness. Second, we designed and tested probes, following with optimizing them. Third, we used iMLDR technology screening181cases and then verified the results.Results:We used iMLDR technology to screen49cases which were determined as positive samples, and117deaf patients which had been collected recently and15control samples. We used Sanger sequencing method to test the result, and found that the false positive rate and the false negative rate were both0%. Otherwise, we confirmed that18of117deaf patients were non-syndromic hereditary deafness, and23cases might be attributed to genetic factors.Conclusions:Comparing with other screening technologies, the iMLDR technology had such advances as low cost, wide range of detection, high accuracy, and flexible features. We believed that this new technology would have a larger value in prenatal diagnosis and the broad screening of patients with sensorineural hearing loss.2.SLC26A4_His723Arg[A/G]_PSorEVAorNSR heterozygous mutation might work with other mutations to cause deafness.