Analysis on deafness gene screening results and clinical significance of 4 129 pregnant women in Zaozhuang city
Objective To analyze the common deafness gene mutation site screening results of 4 129 pregnant women in Zaozhuang city,and to explore the common deafness gene mutation distribution characteristics of pregnant women in Zaozhuang city and the clinical significance of deafness genetic screening.Methods A total of 4 129 pregnant women who were admitted in Maternity and Child Health Care of Zaozhuang from October 2020 to April 2022 for deafness gene screening were selected as the study objects.Peripheral blood was collected after informed consent.A total of 100 mutation sites of 18 deafness-related genes were detected by high-throughput sequencing method,and the detection rate and distribution of each mutation site were analyzed.Genetic sequencing was performed on the spouses of pregnant women with deafness gene carriers,and pregnancy outcomes were followed up.Results Among 4 129 objects,311 were found to carry the deafness gene mutation,with an overall mutation carrying rate of 7.53%.Among them,140 carriers(3.39%)of GJB2 mutation,105 carriers(2.54%)of SLC26A 4 mutation,21 carriers(0.51%)of GJB3 mutation,34 carriers(0.82%)of mitochondrial 12S rRNA mutation,1 carrier(0.02%)of TMC1 mutation,4 cases(0.10%)of homozygous or complex heterozygous mutation,and 6 cases(0.15%)of dual-gene mutation carriers.None of those with mitochondrial 12S rR NA gene mutations had hearing loss,and all of their newborns passed hearing screening.Conclusion Among the common deafness gene mutation sites in pregnant women in Zaozhuang city,the three variants with high positive detection rates are GJB2 235 del C(2.47%),SLC26A 4 IVS7-2 A>G(1.24%)and GJB2 299 del AT(0.63%).None of the patients with mitochondrial 12S rR NA gene mutation had hearing loss,which is related to the controlled use of aminoglycosides in the clinic.It is of great significance for the secondary prevention of hereditary deafness to screen the hot spot variation of deaf-ness gene in prenatal pregnant women and identify the population characteristics of deafness gene mutation in local area.
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