Objective:To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods:The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176_191del16, c.235delC, c.299_300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA（m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results:The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion:23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice.
目的：分析北京市23项新生儿耳聋基因筛查的突变频谱，为遗传咨询及临床诊疗提供依据。 方法：研究对象为2022年12月-2023年6月在首都医科大学附属北京同仁医院接受23项耳聋基因筛查的新生儿21 006例。23项耳聋基因筛查包括4个基因23个位点：GJB2基因（c.35delG、c.176_191del16、c.235delC、c.299_300delAT、c.109G>A、c.257C>G、c.512insAACG、c.427C>T、c.35insG）、SLC26A4基因（c.919-2A>G、c.2168A>G、c.1174A>T、c.1226G>A、c.1229C>T、c.1975G>C、c.2027T>A、c.589G>A、c.1707+5G>A、c.917insG、c.281C>T）、线粒体12SrRNA基因（m.1555A>G、m.1494C>T）和GJB3基因（c.538C>T）。分析各基因位点的突变率及等位基因突变频率。 结果：21 006例中，耳聋基因筛查未通过率11.516%（2 419/21 006）。4个基因中GJB2基因突变率最高，为9.097%（1 911/21 006），其次分别为SLC26A4基因2.123%（446/21 006）、GJB3基因0.362%（76/21 006）及线粒体12SrRNA基因0.176%（37/21 006）。GJB2基因中，c.109G>A和c.235delC突变率最高，分别为6.579%（1 382/21 006）和1.795%（377/21 006）。SLC26A4基因中，c.919-2A>G和c.2168A>G突变率最高，分别为1.423%（299/21 006）和0.233%（49/21 006）。等位基因突变频率，GJB2基因c.109G>A最高，为3.359%（1 411/42 012），其次为GJB2基因c.235delC，0.897%（377/42 012）及SLC26A4基因c.919-2A>G，0.719%（302/42 012）。 结论：北京市23项新生儿耳聋基因筛查提示，GJB2基因c.109G>A突变率和等位基因突变频率最高，值得临床重视。本研究丰富了23项新生儿耳聋基因筛查突变频谱的流行病学资料，可为临床提供依据。.
Keywords: allele frequency; deafness genes; mutation detection rate; newborn.
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