Screening of 15 gene mutation sites of hereditary deafness in 2 006 neonates in Changning District of Shanghai City

Objective To analyze the screening results of 15 sites of 4 common genes in 2 006 newborns with deafness in Changning District of Shanghai City. Methods The 15 genetic deafness related gene detection kits(microarray chip method)were used to detect 15 mutation sites of 4 common deafness-related genes in 2 006 newborns, including GJB2(35delG, 176del16, 235delC, 299_300delAT), GJB3(538 C>T), SLC26A4(IVS7-2 A>G, 2168 A>G, 1174 A>T, 1226 G>A, 1229 C>T, IVS15+5 G>A, 1975 G>C, 2027 T>A)and mitochondrial 12S rRNA(1555 A>G, 1494 C>T). Results Among the 2 006 blood samples, 88 cases were found to have single gene single heterozygous mutations, with a carrier rate of 4.39%, including 40 cases of GJB2 gene heterozygous mutation(the carrier rate was 1.99%), 38 cases of SLC26A4 gene heterozygous mutation(the carrying rate was 1.89%), 4 cases of homogeneous or heterogeneous mutation of mitochondrial 12S rRNA gene(the carrier rate was 0.19%), and 6 cases of GJB3 gene heterozygous mutation(the carrier rate was 0.30%). There were 2 cases of double heterozygous mutations, both were GJB2 235delC and SLC26A4 IVS7-2 A>G double heterozygous mutations. Conclusion Genetic screening for congenital - deafness helps to understand the hot spots of deafness gene mutation, and is conducive to implementations of early diagnosis and early medical intervention, and reduce the incidence rate of deafness.