Analysis Of Genetic Screening Results Of Common Hereditary Deafness Among 11055 Female Of Reproductive Age In Chenzhou

Objective : To investigate the epidemiological characteristics of hereditary deafness gene in female of reproductive age in chenzhou.Method:High-throughput sequencing of 20 target mutation points of4 genes(GJB2?SLC26A4?GJB3?12SrRNA)related to hereditary deafness was performed in 11055 normal hearing women of reproductive age who visited the prenatal diagnosis center of the First People's Hospital of Chenzhou City from March 2017 to May 2019,sanger sequencing was used to validate the positive result of the test and the prenatal diagnosis.Results: Among 11055 women of reproductive age,488 of them are hereditary deafness related pathogenic mutation carriers,the carrying rate was 4.05%,Including 6 SLC26A4 double heterozygous mutation carriers and 7 GJB2 and SLC26A4 double gene heterozygous mutation carriers;460 pathogenic mutations were detected and the detection rate was 4.16%.among the 460 pathogenic mutations,there were 246 cases of GJB2 gene(2.22%,246/11055),the hotspot region were c.235delC(1.75%),c.299-300delAT(0.41%)and c.176-191delAT(0.07%);therewere 150 cases of SLC26A4 gene(1.36%,150/11055),the hotspot region were c.919-2A>G(0.85%),c.1229C>T(0.22%),and c.2168A>G(0.11%);there were 28 case of GJB3 gene(0.28%,28/11055)and the hotspot region were c.547G>A(0.20%)and c.538C>T(0.05%);there were 36 cases of mitochondrial 12 SrRNA gene(0.33%,36/11055),m.1494C>T homogeneous variation(0.05%),m.1555A>G homogeneous and heterogeneous variation(0.22%).385 cases were screened for carrying the pathogenic mutation of GJB2 or SLC26A4 gene,135 normal hearing spouses had the corresponding gene verification,Twenty people were identified as carriers of the same gene,the detection rate of c.109 G>A was 11.67%;after genetic counseling,15 females of reproductive age were informed to take prenatal diagnosis,3 of the fetus of them were suggested a high risk of hearing loss.According to the follow-up of the research subjects,it was found that the spouse of a carrier of c.235 delC locus refused to be examined,and the offspring who had given birth were confirmed to be children with congenital hearing loss.Conclusion:1.The pathogenic mutation rate of hereditary deafness for women of reproductive age in Chenzhou City was 4.05%,among which GJB2 locus c.235 delC and SLC26A4 locus c.919-2A>Gwere the most common hereditary deafness pathogenic mutations.2.A suitable model for prevention and control of deafness that can be suggested : on the basis of combining the screening of newborn hearing and thescreening of hereditary deafness genes,hereditary deafness related gene screening for couples of childbearing age could be considered.