Objective To report distribution of deafness genes and genotype among newborns in Baisha Li Auton-omous County,Hainan Province,in order to provide data support for the government to formulate appropriate deafness prevention and control policies.Methods In this study,626 newborns born in Baisha County from January to Septem-ber 2021 were recruited.Among them,guardians of 606 newborn(96.8％)agreed to participate in this study.The com-mon genetic locus of deafness among the Chinese population was screened by the fluorescence PCR melting curve meth-od using dry blood spot samples.According to"Genetic Screening Criteria for Hereditary deafness",samples positive in gene screening with unknown mutations were verified by sanger sequencing.Results Genetic locus mutations were identified in 26 cases(4.3％)with no gender difference(P＞0.05),Of the 26 cases,13 were of Li ethnicity(n=358)and 13 were from other ethnicity groups(n=248)(P＞0.05).In this study,8 mutations in 4 deafness genes were detected,i.e.c.235delC,c.919-2A＞G,c.1229C＞T,c.547G＞A,c.1174A＞T,c.229-300del,c.2618A＞G and c.538C＞T.Two mutations identified in this study(c.235C＞T and m.1508C＞T)were not part of the test kit.Conclusion The rate of deafness gene carriers among newborns in Baisha County is high,with c.235delC of the GJB2 gene and c.919-2A＞G of the SLC26A4 gene being most common.The local government should make newborn deafness screening in Baisha County available as soon as possible to ensure the quality of life of the population.
维普
万方数据
