Analysis of detection results of genetic mutation for hereditary deafness susceptibility in 3 865 pregnant women
Objective To analyze the main mutation types and carriage rates of deafness susceptibility gene muta-tions in pregnant women in Xuzhou Area,aiming to provide a reference for the screening of hereditary deafness susceptibility genes in pregnant women.Methods A retrospective analysis was performed for the screening data of 3 865 pregnant wom-en with deafness susceptibility genes in Xuzhou Area from September 2017 to November 2021,including 79 pregnant women with hearing impairment and 15 pregnant women from families with mutant genes.Nine mutation sites of four deafness sus-ceptibility genes(GJB2,GJB3,SLC26A4,and mitochondrial 12SrRNA)were detected by microarray array.Results The to-tal carrier rate of deafness susceptibility gene mutations in 3 865 pregnant women was 6.44％(249/3 865),with GJB2 being 3.60％(139/3 865),GJB3 being 0.28％(11/3 865),SLC26A4 being 2.41％(93/3 865),and mitochondrial 12SrRNA being 0.16％(6/3 865).The total carrier rate of deafness susceptibility gene mutation in pregnant women without hearing impair-ment was 5.97％(226/3 786),and the total carrier rate of deafness susceptibility gene mutation in pregnant women with hear-ing impairment was 29.11％(23/79).The difference was statistically significant(x2=68.770,P＜0.05).A total of 10 combina-tions were detected in 18 pregnant women with compound heterozygous mutations,including 235delC/IVS7-2A＞G 6 cases,235delC/299delAT 3 cases,and the number of re-maining combined cases were rare(35delG/IVS7-2A＞G 2 cases,299delAT/IVS7-2A＞G 1 case,235delC/2168A＞G 1 case,538C＞T/2168A＞G 1 case,35delG/2168A＞G/IVS7-2A＞G 1 case,235delC/299delAT/IVS7-2A＞G 1 case,2168A＞G/IVS7-2A＞G 1 case,235delC/176de116 1 case.)Among the 15 families with the mutated gene,11 families had wives with deafness susceptibility gene mutations,husbands were wild-type,1 family had both husbands and wives with deafness susceptibility gene mutations,and infants and young children wild-type or heterozygous mutant hearing were passed;Couples in three families had mutations in susceptibility genes for deaf-ness,among which infants and young children had homozygous mutations and compound heterozygous mutations.Conclu-sion Among the 3 865 pregnant women carrying hearing susceptibility genes,GJB2 235delC mutation site is the main sus-ceptibility gene for deafness,followed by SLC26A4 IVS7-2A＞G mutation site.
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