[Detection of Common Deafness-Related Genes among Non-Syndromic Deafness Patients from Shanxi Province].

OBJECTIVE:To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.METHODS:Peripheral blood samples were collected from regional schools for children with deafness. The samples were analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, and the results were verified by DNA sequencing.RESULTS:For all samples, the 20 mutational sites of the 4 common causative genes were tested. As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%). c.IVS7-2A>G of SLC26A (PDS) gene has a mutation rate of 17.67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%.CONCLUSION:Analysis of mutations of the 4 common deafness-related genes can facilitate early diagnosis and treatment for the disease. Matrix-assisted laser desorption ionization time of flight mass spectrometry is a reliable method for such a task.