Molecular Epidemiology Analysis Of Deaf-mute Patients In The Co-relationship Between SLC26A4 Gene And Enlargement Of Vestibular Aqueduct Among Deaf-mute Patierntes In Yunnan Province

Objective:To preliminarily grasp the SLC26A4 mutation distribution feature in Yunnan Province among the deaf-mute patients,and the minority people, through screening SLC26A4 gene and studing on it's molecular epidemiology among mute—patients in this area. Method: Totlally 235 deaf-mute patients'clinical data were collected from Yunnan Huaxia Secondly Educational School under informed consent.Peripheral blood and the whole genomic DNA were extracted, screening hot muted spot of SLC26A4's 20 exons and supported by whole sequences screening,which is ivs7-2 site of 7+8 exons were first detected, screening of other exons were stopped if biallelic mutations were founded, while other remaining mutation screening were continued if single mutation were founded. For another cases of which whose any mutation of 7+8exons was not founded,exon 10 and exon 19 mutation sites were detected. For those cases which its biallelic mutations were founded((including homozygous mutation ande compound heterozygous mutation),sequences screening were no longer taken, for those cases of which it's single mutation were founded on exon7+8,exonl0 and exonl9,the whole sequences screening were taken. Double lateral temporal bone CT were given to 100 cases who were SLC26A4 gene mutated and 47 ethnic case which were randomly selected and without any mutation in return visit.Resuslt:233 case were NSHL patients,23 case s carry SLC26A4 gene mutation(9.79%,23/235),5 SNPs included, IVS7-2A> G was the highest allele mutation frequency (4.68%,22/470),while 2168A>G comes the second(0.64%,3/470),we found 14 cases were diagnosed with EVA among 16 SLC26A4 mutated cases who had taken double lateral temporal bone CT,but 2 SNPs cases were normal.4 ethnic patients were diagnosed EVA among 47 ethnic cases,among which,3 cases were gene mutated-positive,while 1 cases without any mutated site.Other cases'were normal.Conclusion:14 cases were diagnosed with EVA by the method of gene screening combine with Double lateral temporal bone CT test,help 5.96% deaf-mute cases to make etiology clear.IVS7-2G>A was the highest mutation site among Yunnan nationality,and 2168A>G comes the second.