Analysis Of 58363 Cases Of Deafness Gene Screening In Shenzhen City And Discussion On Technology Development

Hearing impairment is one of the most common sensory disorders in humans,hereditary hearing impairment is of high genetic heterogeneity and has a variety of inheritance patterns.Hearing impairment gene testing can identify the causes at the molecular level,thereby preventing the occurrence of deafness,guiding deafness treatment,and deciding the prognosis.Therefore,this study discussed the clinical application of deafness gene detection in neonates.In recent years,combined screening of deafness gene has been carried out in some regions,and there are differences and characteristics in the types,loci and mutation frequencies of deafness gene detection in different regions.This study based on hereditary deafness gene screening,shenzhen 58363 newborns were compared with pure physical hearing screening,mastered the newborns in the city the main mutations of deafness genes and genetic way,at the same time for screening positive newborn information found in document statistics management,early prevention of the region of late-onset deafness and drug sensitivity of deafness occurrence or development,reduce the incidence of shenzhen neonatal deaf disabled.Early detection,early diagnosis and early intervention of hereditary deafness can be realized fundamentally,which provides a reference experience and template for large-scale genetic screening of newborn deafness in China.In 58363 newborns of this study,2401 cases of deafness gene abnormality were detected by genetic testing,ie the total positive rate was 4.114%,including 29 cases of compound heterozygous mutation with a 0.050% carrier rate;the abnormality of GJB2 gene locus was 1175 cases,whose carrier rate was 2.013%;189 cases were abnormal in GJB3 locus with a carrier rate of 0.324%;874 cases were abnormal in SLC26A4 locus,whose carrier rate was 1.498%;134 cases were abnormal in MT-RNR1 locus with a carrier rate of 0.230 %.The most common deafness mutation gene loci in shenzhen were GJB2:235del C,SLC26A4: ivs7-2a > G and GJB2:299?300del AT.Analysis of combined screening showed that combined physical hearing screening and deafness gene screening could improve the detection rate of deafness compared with simple physical hearing screening.Secondly,this study developed a detection method for 159 points of 22 genes based on high-throughput sequencing,which improved the detection rate.After the detection loci were amplified,the mutation rate of the highest was changed from GJB2 to SLC26A4.Comparison test results based on different technical development of products,to verify the upgrade detection gene locus can improve comprehensive ability,as the region begat provided a new possibility for deafness genetic screening and to explore,strive to achieve the depth of coverage,deafness genes and mutations fully grasp the genetic factors of the newborn deaf disease occurs,to interpret test results analysis,puts forward corresponding prevention and intervention measures,in order to further promote and provide the basis and experience.As neonatal disease screening work carried out step by step and popularization and application of high-throughput sequencing technology,more and more accepted the deafness gene detection,help to realize the deaf children with early detection and early intervention,and to develop effective prevention and control of deafness,avoid high-risk children with hearing and speech,the benefit of children,benefit society,improve the quality of the population.