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目的探讨新生儿听力与聋病易感基因联合筛查的必要性和可行性。方法对2007年11月～2008年8月间洛阳市妇女儿童医疗保健中心出生的2788例新生儿进行听力和聋病易感基因同步筛查,采用筛查型耳声发射仪进行听力初筛和复筛,未通过复筛的新生儿转诊至指定的听力筛查诊断中心行听力学评估和医学诊断;所有新生儿出生时采取脐带血,采用限制性内切酶酶切结合直接测序方法对三种常见耳聋易感基因(m.1555A>G、GJB2、SLC26A4)突变进行筛查;SPSS11.0统计软件对结果进行统计分析。结果①听力筛查结果 :初筛未通过174例(6.24%,174/2788),复筛64例(36.78%,64/174),复筛未通过15例(23.44%,15/64);确诊感音神经性听力损失5例,其中,1例为GJB2基因c.235delC纯合突变,2例为SLC26A4基因c.919-2A>G杂合携带。②基因筛查结果 :2788例中基因筛查异常者81例,其中6例(0.22%,6/2788)为mtDNA12SrRNAm.1555A>G阳性(给予禁用耳毒性药物等防聋指导),1例(0.04%,1/2788,确诊为重度感音神经性耳聋)为GJB2基因c.235delC纯合突变,40例(1.43%,14/2788)为GJB2基因c.235delC杂合携带,34例(1.22%,34/2788)为SLC26A4基因c.919-2A>G杂合携带。结论新生儿听力和聋病易感基因联合筛查能够发现与遗传相关的迟发性耳聋和听力损伤高危新生儿,耳聋易感基因筛查对新生儿听力筛查可起到必要的补充和进一步完善的作用。
Objective To investigate the necessity and feasibility of joint screening of neonates with susceptible genes for hearing and deafness. Methods 2788 newborns born in Luoyang Women’s and Children’s Medical Center from November 2007 to August 2008 were simultaneously screened for susceptibility genes of hearing and deafness and screening screening was performed using screening otoacoustic emission apparatus Screening, non-re-screening of newborns referral to the designated hearing screening diagnostic center audiological assessment and medical diagnosis; all newborns born umbilical cord blood, using restriction endonuclease digestion combined with direct sequencing method Three common deafness susceptibility genes (m.1555A> G, GJB2, SLC26A4) mutations were screened; SPSS11.0 statistical software for statistical analysis of the results. Results ① Hearing screening results: 64 cases (36.78%, 64/174) failed to pass screening screening in 174 cases (23.44%, 15/64), 174 cases failed to pass the screening test (6.24%, 174/2788) Five cases of sensorineural hearing loss were diagnosed, of which one was c.235delC homozygous mutation of GJB2 gene and two was c.919-2A> G heterozygous mutation of SLC26A4 gene. ② Gene screening results: There were 81 cases of abnormal gene screening in 2788 cases, of which 6 cases (0.22%, 6/2788) were positive for mtDNA12SrRNAm.1555A> G (deafness guidance forbidden for ototoxic drugs), 1 case ( 0.04%, 1/2788, diagnosed as severe sensorineural deafness) was a c.235delC homozygous mutation of GJB2 gene, 40 cases (1.43%, 14/2788) were heterozygous for c.235delC of GJB2 gene, 34 %, 34/2788) is a C.919-2A> G heterozygous carrier of the SLC26A4 gene. Conclusion Combined screening of neonates with susceptible genes for hearing and deaf can find genetic risk factors associated with delayed deafness and hearing impairment in neonates with high risk of hearing loss, deafness susceptibility gene screening for neonatal hearing screening can play a necessary complement and further Perfect role.