A Study Of Newborn Hearing And Deafness Gene Associative Screening In Yangzhou Region

Research background:Congenital deafness is one of the most common birth defects, the incidence rate was 1 per thousand to 3 per thousand, and in a rising trend year by year. In 2006 the second China national sample survey on disability to display the country all disabled people for a total of 82960000 people,20040000 people are hearing disability, hearing disability prevalence rate was 2.11%,24.16% of the total number of accounts for the disabled, in second place, second only to physical disability. Every year new born newborn up to 23000 （not including the late deafness and drug deafness）, to moderate to severe and profound hearing loss mainly. Hearing impairment in China Disabled number about 27800000 people, accounts for the national total disabled 33.5%, ranked the first place of various disability. Among them, the following the hearing disorder children 7 years of age 800000,deaf children are born each year in more than about 30000 people, if coupled with late-onset deafness （post lingual deafness） and drug deafness patients, the annual increase in new hearing impaired children can reach more than 60000 people. Deaf because of dumb, can seriously affect the intellectual development of children and the emotional exchange, can also cause social disorder and defects involved in the labor force, causing heavy economic burden to society and family. There are many factors to cause deafness, such as genetic factors; drug use history of the mother during pregnancy; maternal intrauterine infection; mother’s production history; neonatal hyperbilirubinemia; craniofacial deformity; premature or low weight; each kind of acquired factors, such as trauma. According to statistics, about 60% of these deafness are caused by genetic factors. Each year more than 0.6 million new deaf children, at least 50% deaf children are caused by genetic defect, a large number of literature at home and abroad show that genetic deafness by following a hot common gene mutations are GJB2, SLC26A4, mtDNA12S, rRNA,GJB3 gene, which provide a theoretical basis for the various regions to carry out large-scale deafness gene screening and diagnosis. The mitochondrial 12SrRNAc.1555A> G, c.1494C> T, GJB2 gene 35delG,167delT, 176₁91dell6,235delC,299₃00delAT, GJB3 gene 538C>T,547G>A, SLC26A4 （PDS） gene 281C>T,589G>A, IVS7-2A>G,1174A>T,1226G>A,1229C>T, IVS15+5G>A,1975G>C, 2027T>A,2162C>T,2168A>G were all hot mutation. This research adopts the genetic screening combined with lack of hearing screening, through gene screening to compensate for hearing screening, for the guidance of hereditary hearing loss population mating and reduce have important significance in children with hearing impairment in local area of the birth rate.Objectives:To summarize newborn hearing screening in Yangzhou city and explore the deafness gene combined with hearing synchronize the significance problem through screening, gene screening to compensate for hearing screening, improve drug and late-onset deafness children eventually reached the detection rate, prevention and treatment of hearing loss in children with hearing loss, reduce the birth rate target area.Methods:During the period from 2013 April to 2014 August in Yangzhou, born in 965cases of neonatal as the research object, by the North Jiangsu People’s Hospital pediatrie of newborn hearing screening work, simultaneous screening and these newborns were deaf disease susceptibility genes. Universal newborn hearing screening by screening type of otoacoustic emissions （Distortion product otoacoustic emissions, DPOAE）, complex sieve by DPOAE with automatic discrimination of auditory brainstem response （auto-auditory brainstem response, AABR）.Screening is scheduled for 3 to 5 days after birth; screening for 42 days after birth. After 3 months of their born, the newborn were audiological assessment and medical diagnosis screening failed.6 months of their born, the newborn were made a definite diagnosis. Susceptible gene screening for newborn screening for these same period deafness, using genetic disease screening sampling card collection was born after 3～5 days of neonatal heel blood as extracting genomic DNA of deafness detecting susceptibility genes, including 4genes of the 20 most common mutation hot spots （including mitochondrial 12SrRNA c.1555A> G, c.1494C> T, GJB2 gene,167delT 35delG,176₁91del16,235delC,299₃00delAT, GJB3 gene 538C>T, 547G>A,SLC26A4 （PDS） gene 281C>T,589G>A, IVS7-2A>G,1174A>T,1226G>A,1229C>T, IVS15+5G>A,1975G>C,2027T>A,2162C>T,2168A>G） were detected.Results:965 cases of newborns,937 cases by screening, screening pass rate was97.10% （937/965）,28 cases were re screening,18 cases failed, accounting for 1.87% of the total （18/965）, 10 cases in March at the age of Audiology diagnosis, final diagnosis of 6 cases of newborn hearing loss. Deafness gene detection results for 1 cases of 12SrRNA c.1555A>G gene mutation,33 cases GJB2 gene mutation, GJB2, including 28 cases of 235delC heterozygous mutation,1 cases GJB2 299₃00delAT heterozygous mutation,2 cases GJB2 235delC homozygous mutation,1 cases GJB2 235delc&299₃00delAT compound heterozygous mutations,1 cases GJB2176₁91del16&235delC compound heterozygous mutations; 18 cases ofSLC26A4 gene mutation, including 16 cases of SLC26A4 IVS7 2A>G heterozygous mutation, 1 cases SLC26A4 2168A>G heterozygous mutation,1 cases SLC26A4 1226G>A heterozygous mutation, the mutation rate was 1.87%（18/965）; 1 cases were GJB3 538C>T heterozygous mutation, hearing screening and gene screening were passed in 905 cases, hearing screening and gene were not passed in 11 cases, hearing screening by but not by gene screening in42 cases, failed in hearing screening but gene screening through 7 cases.Conclusions:Susceptible gene combined with newborn hearing screening and can be found, part of the drug and late-onset deafness related gene, can be detected as early as the prelingually deaf and methods late-onset deafness or hearing loss induced by gene carriers, combined with the later regular follow-up and monitoring, is currently the most effective screening methods, for drugs discovery and late-onset deafness in children, the need to avoid the use of ototoxic drug sand further audiology observation.