Common Deafness Gene Mutation Analysis From 356 Non-syndromic Deafness Patients In Guizhou Province

Objective:The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHI)in Guizhou province.Methods:Genomic DNAs of 356 patiens of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12sRrRNA.Results:eigthy-eight(24.72%)out of 356 patients were found carring at least one pathogenic gene mutation,among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of compound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations,29 patients with the SLC26A4 mutations were found(8.15%),including 9 cases(2.53%)of homozygous matutions and 19 cases(5.34%)of single heterozygous mutations,Homogenic mitochondrial 12SrRNA 1555A>G mutations in ten patients(2.81%)and 1494C>T mutations in tow patien(0.56%),heterogeneous mitochondrial 12SrRNA 1555A>G mutations in seven patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in one patients.The totlaI mutation rate found in the minority deafness groups was 18.69%.significantly different from that in the Han deafness groups was 35.00%(χ2=8.012,P=0.005)。The mutation detection rates of prevalent deafness associated genes were 19.51%、11.76%、30.00%and 12.50%in Miao,Buyi,Dong and Tujia Minority NSHI patiens(χ2=2.275,P>0.05),not significantly difference。Conclusion:Mutations of GJB2 and SLC26A4 gene are two major pathogenic gene for patiens with NSHI in Guizhou,235delc mutations is the main mutation type,followed by IVS7-2A>G mutation type,and it will provide a theoretical basis to determine the etiology of deafness in Guizhou province.