呼和浩特市新生儿遗传性耳聋24基因208位点筛查研究OA

Objective To report the carrier status of pathogenic deafness genes among neonates in Hohhot.Methods Neonates(n=3233)were randomly enrolled in a cross-sectional study at the Hohhot Neonatal Screening Center in 2021.DNA was extracted from dried heel blood samples for screening of 208 loci in 24 deafness genes via high-throughput sequencing.Results Among the 3233 neonates,358(11.07%)carried pathogenic variants of genes associated with hereditary deafness,with GJB2 showing the highest detection rate(6.80%,220/3233).Mutations included single heterozygous variants(n=216),homozygous variant n=1),and compound heterozygous variants(n=3),with an allele frequency of 3.46%at pathogenic loci.SLC26A4 was detected in 63 cases(1.95%),including single heterozygous variants in 62 and compound heterozygous variant in 1,with an allele frequency of 0.99%at pathogenic loci.MT-RNR1 was detected in 27 cases(0.83%).Other involved genes included GJB3(0.43%,n=14),MYO15A(0.37%,n=11),PCDH15(0.34%,n=10),CDH23(0.15%,n=5),TMPRSS3(0.09%,n=3),and OTOF(0.09%,n=3).The detection rate of the traditional panel covering 23 loci in 4 genes(8.54%)was significantly lower than that of the 208 loci in 24 genes panel(11.07%)(P<0.001).Conclusions The rate of pathogenic deafness genes carriers among neonates in Hohhot is higher than the national average.Screening targeting 208 loci in 24 genes is superior to the 23 loci in 4 genes screening in locus coverage and variants detection.