The common deafness gene test results analysis of 131 deaf children in Shaoxing area

Objective Through detecting the common deafness genes in patients, we discover the mutation chart of the hereditary deafness gene and the mutation frequency in the region in order to provide scientific evidence for deafness prevention. Methods The 20 spot mutations of the common deafness genes of GJB2, SLC26A4, 12srRNA and GJB3 were detected by using MALDI-TOF-MS technique for 131 patients from 2 deaf children rehabilitation center and out-patients. Results Sixty-three cases were detected with mutation among 131 patients, and the detection rate was 48.09%. Twenty cases were homozygous mutation, and the ratio was 15.27%. 51 cases were heterozygous mutation, and the ratio was 38.93%. Thirty-eight cases were GBJ2 mutation, and the ratio was 29.01%. Twenty-five cases were SLC25A4 mutation, and the ratio was 19.08%. The highest detection frequency spots are GJB2 235delC spot and IVS7-2A>G spot from SLC26A4, and the corresponding detection rates are 26.72% and 12.98%. GJB3 gene and mt DNA mutation were not detected.60.1% patients with family hereditary deafness was detected, and no statistical significance is discovered compared with detecting ratio of patients without family hereditary deafness (χ²=0.752, P>0.05). Conclusion The detection rate of the common deafness genes among the patients is relatively high in this region, and the major mutations are GJB2 and SLC26A4. 12srRNA may not be the major pathogenic genes of deafness in this region. Detecting the deafness genes can help determine the cause of deafness, and has significance on the family re-birth risk analysis.