Analysis Of GJB2,SLC26A4 And Mitochondrial DNA Mutation In Hani Ethnic Patients With Nonsyndromic Hearing Loss From Yunnan

Objective(s):To investigate prevalence and characteristics of nonsyndromic deafness gene GJB2, SLC26A4 and mitochondrial genes of 1555A>G and 1494C>T in the Hani ethnic minority population of YunnanMethods:a total of 24 patients were collected from Yunnan children's hospital of Kunming City deaf children of Hani ethnic minority from deaf school, collection their venous blood and detection and analysis GJB2, SLC26A4 hotspot loci such as 35delG?167delT?176-191dell6?299-300delAT?235delC?512insAACG?281C>T?589G>A?IVS7-2A>G?1174A>T?1226G>A?1229C>T?1975 G>C?2027 T>A?2162 C>T?2168 A>G?IVS15+5 G>A?and the mitochondrial genes 12SrRNA 1555A>G and 1494C>T by DNA extraction, target gene capture, PCR,high-throughput sequencing .Results:8 cases of 24 Hani nonsyndromic deafness patients,were 235delC heterozygous GJB2 gene mutation, 1 cases of 235delC homozygous mutation of.GJB2 gene 235delC mutation is common deafness genes in Yunnan Hani mutation of.GJB2 gene in 24 cases of non syndromic deafness patients in 235delC at least one mutant allele carrying rate is 37.5%, the mutation rate of 235delC was 20.8%,235delC heterozygous mutation rate of 16.6% (8/48). Biallelic mutation rate is 4.1%(2/48). The other two genes SLC26A4, mitochondrial 1555A>G and 1494C>T mutation rate was 0.Conclusion(s): This study identified 24 cases of Yunnan Hani nonsyndromic deafness patients GJB2, SLC26A4 common mutations and mitochondrial 1555A>G and 1494C>T mutations, found the form of 235delC of GJB2 gene mutation is common in Yunnan Hani ethnic minority population, SLC26A4 and mitochondrial 1555A>G 1494C>T mutation and GJB2 mutation is less.