Application of Deafness Gene Detection in Prenatal Screening
Objective To explore the value of genetic testing for hearing loss in prenatal screening. Methods 2980 pregnant women with normal hearing who voluntarily came to Jilin Obstetrics and Gynecology Hospital for testing the deaf gene program from April 2020 to Sep-tember 2023,as well as the spouses of some pregnant women(137 individuals),were selected. Flow cytometry was used to detect 9 loci of four susceptible deaf genes in China,including GJB2-235,GJB2-299,GJB2-35,GJB2-176;SLC26A4-IVS7(-2),SLC26A4-2168;GJB3-538;mtDNA1555,mtDNA1494. Calculate the percentage of positive genes at each locus based on the obtained positive data. After confirming that the tested pregnant woman was a carrier of the hearing loss gene,the same process was used to test her spouse,and the ob-tained data was analyzed. Results A total of 148 deaf gene carriers were detected among 2980 pregnant women with normal hearing,with a positive detection rate of 4.97％. Among them,there were 82 cases carrying GJB2 gene mutations,accounting for 2.75％;57 cases carrying SLC26A4 gene mutations,accounting for 1.92％;There were 6 cases carrying GJB3 gene mutations,accounting for 0.20％;There were 3 cases carrying mtDNA gene mutations,accounting for 0.10％. Out of 148 carriers of the deaf gene,137 spouses participated in the testing. Among them,2 cases were carriers of susceptibility genes for deafness,1 case was a GJB2-235 heterozygous mutation,and 1 case was a SLC26A4-IVS7(-2)heterozygous mutation. Conclusion Pregnant women with normal hearing still have carriers of suscepti-bility genes for deafness,with GJB2-235 heterozygous mutation and SLC26A4-IVS7(-2)heterozygous mutation being the main carriers.
万方数据
维普
