Abstract:

Objective      To explore the signification of  genes by analyzing the prevalence of SLC26A4 IVS7-2A>G mutation in 95 patients with non-syndromic hearing loss from Erdos， Inner Mongolia． Methods       The medical history of 95 deaf school students was recruited by a questionnaire survey． An  audiological examination was conducted with pure-tone audiometry and acoustic immittance measurement．The SLC26A4 IVS72A>G mutation was identified by both the testing kit with PAGE silver staining and direct sequencing． Results        95 patients with non-syndromic hearing loss(SNHL) were all diagnosed as sensorineural hearing impairment． The positive rate was 10.5%． 6 homozygotes and 4 heterozygotes were found to carry the IVS7-2A>G mutation by testing  with PAGE silver staining． The results were all confirmed by sequence analysis． Conclusions        The rate of the SLC26A4 IVS7-2A>G mutation in this group was relatively high． SLC26A4 IVS7-2A>G is one of the most important mutation spot in  gene preventive testing for non-syndromic hearing loss. It is also significant evidence for diagnosing Dilated Vestibular Aqueduct Syndrome． The PAGE silver staining method is convenient， inexpensive and suitable．

Key words:  Hearing loss； Vestibular aqueduct； Mutation；  DNA