目的：通过新生儿致聋基因突变筛查、遗传咨询及随访，分析新生儿常见遗传性耳聋基因的突变频率、类型及听力表型，探讨耳聋基因筛查联合新生儿听力筛查对漏筛风险的规避性及遗传咨询的应用范围和临床价值。方法分析北京市新生儿血样44200例，应用微阵列芯片法检测中国人常见的4个致聋基因的9个突变位点，对检出者进行随访并提供遗传咨询。结果本组新生儿耳聋基因突变检出率为4.26%（1884例）；GJB2（1027例）与SLC26A4（617例）基因突变占比最高，总携带率为3.72％；致聋药物易感基因线粒体DNA基因突变率达0.25％（112例）；明确单个耳聋基因纯合及复合性突变16例，同时携带不同基因突变个体21例；以可随访新生儿998例为进一步研究对象，建立并实践筛查阳性个体听力随访流程及遗传咨询规范。结论新生儿听力筛查联合耳聋基因筛查可有效提前确诊遗传性耳聋的时间；基因筛查可用于指导遗传咨询，通过建立病历追访和听力随访体系、掌握咨询要点，可避免、预防和减少耳聋的发生，并有效指导家族成员婚育。%Objective To determine the prevalence of deafness gene mutations in newborns and provide clinical experience for newborn genetic screening and effective genetic counseling.Methods The blood samples of 44200 newborns in Beijing were screened for hot spot mutations of GJB2,GJB3,SLC26A4 and MTRNR1 associated with hearing loss. The genetic screening results were comprehensively analyzed with hearing results in genetic counseling.Results 1 or 2 pathogenic mutations were identified in 1884(4.26%)individuals.Among them, mutations of GJB2 and SLC26A4 were commom with the rate of 3.72%.112 babies were found to carry the MTRNR1 mutation.16 compound heterozygotes and homozygotes were also identified. 21 newborns showed 2 mutations in 2 different genes.998 newborns visited the genetic clinic regularly as part of the research to provide genetic counseling.Conclusion The combination of genetic and audiological screening can play an important role in deafness detections of infants before key period of speech development. Genetic screening provides useful and targeted information in genetic counseling.
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