A new method for simultaneous multi-gene mutation screening in 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#Using simultaneous multi-gene mutation screening to survey the molecular epidemiological basis of 355 patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region, we can identify the causes of their deafness,and verify the new method for simultaneous multi-gene mutation screening.@*METHOD@#Three hundred and fifty-five patients with severe non-syndromic deafness from Inner Mongolia Autonomous regior were included in the study. The SNPscan technology was used for screening the 115 spots mutations in three common deafness-related genes(GJB2, SLC26A4, MT-12S rRNA) of patients with nonsyndromic hearing loss of Inner Mongolia Autonomous region.@*RESULT@#In 355 patients, there were 89 cases of deafness caused by mutatior (25.07%). 53 patients with the GJB2 mutations were found(14.93%), including 24 cases of homozygous mutations (6.76%), 29 patients (8.17%) of compound heterozygous mutations, and 3 cases (0.85%) of single heterozygous mutations. 33 patients with the SLC26A4 mutations were found (9.30%), including 15 cases of homozygous mutations (4.23%),18 patients (5.07%) of compound heterozygous mutations, and 5 cases (1.41%) of single heterozygous mutations. mtDNA12S rRNA A1555G mutation was found in 6 patients (1.69%). mtDNA12S rRNA 1494C>T mutation was not found.@*CONCLUSION@#SNPscan technology allows accurate, rapid and cost-effective diagnostic screening in patients with hearing loss for etiology investigation. The SNPscan technology can serve as a good diagnostic tool for large-scale genetic testing for hereditary deafness and should be widely applied.