Objective High-throughput sequencing was used to screen deafness genes for newborns,and evaluate the mutation frequency and type of hereditary deafness genes of newborns in Hainan Province.Methods With informed consent,6337 newborns'heel blood from January to December 2021 in Hainan Province were collected to make dry blood spots.High-throughput sequencing technology was applied to detect the 208 sites of 24 genes of deafness genes,and the neonatal hearing screening technology was carried out in accordance with the neonatal hearing screening pro-gram of Hainan Province.Excel and SPSS 18.0 statistical software are used to statistically analyze the test results.Re-sults 6337 newborns were detected with 1700 cases of deafness gene mutation,and the positive rate was26.83％(1700/6337).The single-gene mutations were detected with 1655 cases(26.12％),two-gene mutations were detected with 45 cases(0.71％),and no simultaneous mutations of multiple genes were detected.The detecting results indicated 1576 cases of GJB2(24.87％),92 cases of SLC26A4(1.45％),41 cases of MT-RNR1(0.65％),21 cases of GJB3(0.33％),2 cases of LRTOMT(0.03％),10 cases of TMPRSS3(0.16％),and 3 cases of USH2A(0.05％)in single and double gene.The first three mutation sites were c.109G＞A 1496 cases(23.61％),c.235delC 72 cases(1.14％),and c.919-2A＞G 48 cases(0.76％).17 cases of hearing impairment were confirmed,of which 16 cases were abnormal in gene screening for deaf-ness.Conclusion There are differences in the screening methods,detected genes and sites of neonatal deafness gene in different regions of China,and the positive detection rate of deafness gene is different,whether there is regional differ-ences is worth further exploration.The genetic results of newborns are not consistent with the clinical hearing diagnosis results,and the follow-up of positive cases should be strengthened.
维普
万方数据
