A Analysis Of Deafness Susceptible Gene Mutation Screening For Newborns In NICU

Objective:To investigate the carrying rate and mutation types of common deafness gene GJB2,GJB3, SLC26A4 and mt DNA12 Sr RNA 18 hot mutation of NICU newborns as the scientific basis of development of the deafness gene screening.Methods:Selected 113 neonatals who was born in Obstetrics in our hospital and was admitted to the NICU as the object of study in November 2013 April 2014, collected the transient evoked otoacoustic emission?TEOAE? and automated auditory brainstem response?AABR? results and basic information?fetal age?weight?Perinatal risk factors?Guardian phone? address and so on?, acquisite and send the heel blood in stable condition?3 blood spots,?>8mm? between postnatal 3 days to before discharge to BGI in Shen Zhen, screened 18 mutations?35del G?167del T?176₁91del16?235del C?299₃00del AT?538C>T?547G>A?SLC26A4?281C>T?589G>A?IVS7-2A>G?1174A>T?1226G>A?1229C>T?IVS15+5G>A?1975G>C?2027T>A?1494C>T?1555A>G? in the 4genes?GJB2,GJB3, SLC26A4 and mt DNA12 Sr RNA?by time of flight mass spectrometry analysis Screening.Results:102 of 113 newborns received complete hearing screening, 7 did not pass the UNHS, it account for 6.86%? 7/102?, the number of left ear did not pass is 2, right ear is 4 and both is 1.Finding 6 deafness gene mutations in 113 neonatals,it account for 6.86%?6/113?: there are 4 mutations in the 235 delc of GJB2, it account for 3.54%?4/113?, the result of UNHS?TEOAE and AABR?are 2 newborns' s binaural screening are pass, there is 1 newborn's right ear is refer;there is 1 mutations individually in the 538C>T and IVS7-2A>G of GJB3 and SLC26A4 which including respectively,it account for 0.88%?1/113?,the result of binaural UNHS are pass;there is not mutation in 1494C>T and 1555A>G of the mt DNA12 Sr RNA.There is no significant difference between the hearing screening's result and the rate of deaf gene.Conclusion: The detection rate of common deafness gene of NICU neonatal is located in the national average level. It achieves the early discovery, early prevention, early treatment, reduce the disability rate and morbidity for mutation carriers,and can help parents to have a correct understanding about the disease, guide their families and doctors choose appropriate treatment for children with hearing loss, predict the rate of incidence in offspring, strengthen the consciousness of prenatal genetic counseling, so we should develop actively UNHS and deafness susceptibility gene screening in newborn especially in NICU. The screening of deafness genes can be a scientific basis for the selection and determination of the deafness gene in the future.