Research Shenzhen Newborn Hearing Screening And Hearing Loss Gene Combined Mode

Objective By analyzing the Shenzhen Newborn Hearing and Deafness Gene screening data, master deafness gene mutation distribution in the general population, and specific knowledge of Shenzhen and mutant genes that cause deafness main characteristics of the traditional hearing screening Style and fashion combined screening compared with the initial establishment of the joint hearing and deafness gene screening in newborns appropriate use.Methods In June 2014- October 2015 to participate in Shenzhen newborn hearing screening program and deafness genes joint medical units born 8209 cases of neonatal screening as an object, neonatal heel blood collected at birth 2-3 drop by physical hearing screening and time of flight mass spectrometry technology for newborn hearing screening and deafness gene, 20 mutations for Chinese people four common deafness genes.Results 1.GJB2 gene mutation, SLC26A4 gene mutation, 12 Sr RNA gene mutation, GJB3 mutations in the general population of newborns detection rates were 2.45%, 1.71%, 0.30%, 0.41%; carrying two genes detected above the crowd rate is 0.13%. Deafness gene mutations detected in the newborn population accounted constituent ratio were48.79%, 34.22%, 6.07%, 8.50%.2.GJB2 235 del C gene mutation,SLC26A4 gene IVS7-2A> G mutation, 12 Sr RNAc.1555A> G mutation detection rate of 1.96%, 1.24%, 0.19%.3.8209 cases of newborn hearing screening does not physically pass rate of 18.75%, a joint hearing deafness genetic screening did not pass was 15.00%, which was purely physical and hearing screening were compared, the difference was statistically significant. In 1539 cases of newborn hearing screening, no through screening 160 patients did not pass was 10.40%, and the combined analysis of genetic deafness, not by comparing the rate of15.27% of the way, the difference was statistically significant.4.District CHILD joint use OAE ABR screening, did not pass was 2.83%. The overall result alone did not pass OAE screening was 2.40%, area of maternal and child alone does not pass OAE screening was 2.49% area of maternal and child alone ABR screening is not performed by the rate of1.66%, the difference statistically significant.Conclusions 1.The common mutation sites for neonatal deafness gene GJB2 235 del C mutation, SLC26A4 IVS7-2A> G mutation,12 Sr RNAc.1555A> G mutation.2.Physical hearing screening and combined screening deafness genes detection rate than mere physical hearing screening detection rate.3.OAE + ABR way to improve the detection rate of hearing loss, in combination with better than a single OAE or ABR mode.1. The present study was molecular epidemiological characteristics of the region in newborn screening for deafness genes,four genes detection rate in the neonatal population and 20 distribution sites in the neonatal population, can for the early diagnosis of deafness,intervention, treatment and genetic counseling provide a theoretical basis.