An analysis of deafness genes screening in 42708 newborns
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摘要: 目的 了解南宁市区新生儿常见耳聋基因的突变类型和突变携带率,并就耳聋基因检测结果进行评价,为遗传性耳聋的远期预防和临床诊断提供依据。 方法 对2016年1月—2018年12月在广西壮族自治区妇幼保健院产科出生、儿科门诊以及耳鼻喉科门诊进行筛查的42 708例新生儿,应用基质辅助激光解析-飞行时间质谱法筛查在我国常见的4个基因包括20个位点GJB2(35delG、176-191del16、167delT、299_300delAT、235delC)、GJB3(538C>T、547G>A)、SLC26A4(281C>T、589G>A、1174A>T、1226G>A、IVS7-2A>G、1229C>T、1975G>C、2162C>T、2027T>A、IVS15+5G>A、2168A>G)、和线粒体12SrRNA(1555A>G、1494C>T)。 结果 42 708例新生儿中检出基因突变940例,总体阳性检出率为2.201%,其中GJB2基因突变492例,突变携带率约1.152%;GJB3基因突变61例,突变携带率约0.143%;SLC26A4基因突变320例,突变携带率约0.749%;线粒体12SrRNA基因突变57例,突变携带率约0.133%。同时检出复合杂合突变1例,双杂合突变9例。 结论 本研究中主要的突变基因是GJB2和SLC26A4,主要的突变位点是235delC和IVS7-2A>G,开展新生儿听力筛查与耳聋基因联合检测有助于耳聋的早期预防特别是药物性耳聋的预防,对降低耳聋发生和出生缺陷的发生有重要意义。Abstract: Objective To understand the mutation type and mutation carrying rate of the common deafness genes of the newborn in Nanning City, evaluate the detection results of deafness genes, and provide the basis for the long-term prevention and clinical diagnosis of hereditary deafness. Methods A total of 42 708 newborns were collected in Obstetric, Paediatric Clinic and Otolaryngology Clinic of Guangxi Maternal and Child Health Hospital from January 2016 to December 2018. Four common genes in China were screened by Matrix assisted laser desorption ionization time of flight mass spectrometry, including 20 mutation loci of GJB2(35 delG, 176-191 del16, 167 delT, 299_300 delAT, 235 delC), GJB3(538 C>T, 547 G>A), SLC26 A4(281 C>T, 589 G>A, 1174 A>T, 1226 G>A, IVS7-2 A>G, 1229 C>T, 1975 G>C, 2162 C>T, 2027 T>A, IVS15+5 G>A, 2168 A>G), and Mt12 SrRNA(1555 A>G, 1494 C>T). Results Among 42 708 newborns, 940 had gene mutation, with a total positive detection rate of 2.201%, including 492 GJB2 mutations(1.152%), 61 GJB3 mutations(0.143%), 320 SLC26 A4 mutations(0.749%) and 57 Mt12 SrRNA mutations(0.133%). Meanwhile 1 compound heterozygote and 9 double heterozygotes were founded. Conclusion In this study, GJB2 and SLC26 A4 were the major mutations, and 235 delC and IVS7-2 A were the major loci. The combined screening of newborn hearing and deafness gene is important to prevention of deafness, especially the prevention of drug-induced deafness, and is the great significance in reducing the occurrence of deafness and birth defects.
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Key words:
- Newborn Screening /
- Deafness Genes /
- Mutation Analysis
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