Genetic Screening for Common Deafness Gene Mutations in 1,500 Women of Childbearing Age

PAN Lihua; YU Xinyou; MA Xiaoling; LU Ruiping; ZHAO Hongmei; TIAN Shujuan; ZHANG Xiwei; AN Lina; MA Huifang; LI Zhen; TIAN Le

doi:10.3969/j.issn.1672-2922.2024.05.006

Abstract：Objective To understand characteristics and differences of deafness genes distribution in Pingluo County,Shizuishan City,Ningxia Hui Autonomous Region,for the most economical and effective prevention methods for hereditary deafness.Methods A total of 1,500 non-pregnant or less than 17 weeks pregnant normal hearing women of childbearing age who visited the Pingluo County Maternal and Child Health Hospital from July 2020 to February 2022 were enrolled.Next-generation sequencing was used to screen for deafness gene mutations,full-length sequencing of the same genes carried out in spouse of mutation carriers.Interventional prenatal diagnosis was implemented for couples with the same gene mutations.Results A total of 74 women(4.93％)were found to carry deafness g ene mutations,involving the GJB2 gene(n=30,2.00％),the SLC26A4 gene(n=27,1.80％),the GJB3 gene(n=2,0.13％),the TMC1 gene(n=2 cases,0.13％),and mutations related to drug-induced deafness(n=12,0.80％),i.e.,m.7444G＞A(n=6).Polyheterozygous mutations of the GJB3 and SLC26A4 genes were found in one woman(0.07％).Two couples were found to carry the same autosomal deafness gene,and one of them received prenatal diagnostic testing which was negative.The prevalence of common deafness gene mutations and SLC26A4 genes in Hui ethnic female in the first trimester of pregnancy was lower than in Han ethnic female(P＜0.05).Conclusion The rate of hereditary deafness gene carriers in Han ethnic female is higher than in Hui ethnic female in the sample area.Expansion of the number of genes and loci in screening can be conducive to the detection of high-risk carriers of various genotypes,and to completing the local deafness gene hotspot map,as well as precise prevention and control of deafness in the local population.