Study On The Carrying Status Of Causative Genes For Non-syndromic Deafness Of Newborns In Inner Mongolia

Objective: Through the detection of deafness genes in newborn populations in Inner Mongolia,preliminary explo mon deafness mutation genes in Inner Mongolia area,and provide reference materials for clinical diagnosis and treatment of deafness and prenatal screening of deafness genes in Inner Mongolia area.Methods: 3,500 newborns born in the Inner Mongolia Maternity and Child Health Hospital from January 2018 to June 2018 were selected as the research objects,and 20 loci of 4deafness genes were detected by the combined probe-anchored polymerization sequencing method.Statistical methods were used to analyze the mutations of deafness genes in the newborn population in Inner Mongolia.Results: 197 cases of deafness gene mutations were detected in 3,500 newborns,and the overall detection rate was 5.63%.Among them,182 cases were heterozygous mutations/heterogeneous mutations,and 15 cases were homogenous mutations in mitochondrial genes.Among the 4 genes,GJB2 and SLC26A4 had the highest detection rates,both at 2.34%.Among the 20 loci,GJB2 had the highest proportion of 235 del C positive,reaching29.44%,followed by IVS7-2A>G of SLC26A4,with a positive proportion of 27.41%.Conclusion: The total detection rate of deafness genes in Inner Mongolia is higher than the national average.The most common deafness genes are GJB2,SLC26A4,235 del C and VS7-2A>G are the sites with the highest mutation rates.The screening of deafness genes should be strengthened,focusing on the GJB2 and SLC26A4 genes.