杭州地区4842例新生儿耳聋基因筛查结果分析(1)
[摘要] 目的 應用遗传性耳聋基因芯片筛查杭州地区新生儿常见遗传性耳聋基因的突变频率和类型。 方法 收集杭州地区2016年2月～2017年10月送检的4842例新生儿足底血制成的干血斑，应用PCR+导流杂交法检测中国人常见的4个致聋基因14个突变位点，包括GJB2基因(176-191del 16、235 del C、299-300 del AT)、GJB3基因(538C>T、547 G>A)、SLC26A4基因(IVS7-2A>G、IVS15+5GA、2168 A>G、1229C>T、1174A>T、1975G>C、1226G>A)、线粒体DNA 12S rRNA基因(1555A>G、1494C>T)。 结果 4842例新生儿中200例携带耳聋基因突变，总体阳性率为4.13%，其中GJB2基因突变58例，突变携带率为1.20%，SLC26A4基因突变98例，突变携带率为2.02%，12S rRNA基因19例，突变携带率为0.39%，GJB3基因突变 31例，突变携带率为0.64%。200例耳聋基因突变携带者195例(97.50%)通过听力筛查。 结论 耳聋基因筛查是现有听力筛查模式的良好补充，对遗传性非综合征性耳聋早诊断、早预防、早治疗极为重要。
[关键词] 耳聋基因;听力筛查;基因突变;遗传性非综合征性耳聋
[中图分类号] R764.4 [文献标识码] A [文章编号] 1673-9701(2020)23-0016-04
An analysis for newborn deafness genetic screening of 4842 neonates in Hangzhou
WU Yafeng ZHAI Hongbo LU Jianyang LU Caijuan
Department of Obstetrics， Affiliated Hangzhou First People's Hospital， Zhejiang University School of Medicine，Hangzhou 310006， China
[Abstract] Objective To investigate the mutation frequency and type of hereditary deafness genes in neonates in Hangzhou using deafness genechip array. Methods Dried blood spots(DBS) were sampled from plantar blood of 4，842 neonates collected from February 2016 to October 2017 in Hangzhou. Four deafness genes and 14 mutation sites commonly seen in Chinese were detected using a PCR/Flow-through hybridization assay， including GJB2 gene(176-191del 16， 235 del C and 299-300 del AT)， GJB3 gene(538C>T and 547G>A)， SLC26A4 gene(IVS7-2A>G， IVS15+5GA， 2168A>G， 1229C>T， 1174A>T， 1975G>C and 1226G>A) and mitochondrial DNA 12S rRNA gene(1555 A>G and 1494C>T). Results 200 cases carried deafness gene mutations in the 4， 842 neonates， with a positive rate of 4.13%. GJB2 gene mutation was found in 58 cases， with a carrying rate of 1.20%， and SLC26A4 gene mutation in 98 cases with a carrying rate of 2.02%， Mitochondrial DNA 12S rRNA mutation in 19 cases with the carrying rate of 0.39%， and GJB3 gene mutation in 31 cases with the carrying rate of 0.64%. It was found that 195 cases carrying deafness gene mutations initially passed newborn hearing screening， accounting for 97.50% of the 200 cases. Conclusion Deafness gene screening is a suitable supplementary measure in the existing hearing screening system， which is of great significance for early diagnosis， prevention and treatment for hereditary nonsyndromic deafness.
[Key words] Deafness gene; Hearing screening; Gene mutation; Hereditary nonsyndromic deafness, 百拇医药(吴雅枫 翟洪波 鲁建央 鲁才娟)
[关键词] 耳聋基因;听力筛查;基因突变;遗传性非综合征性耳聋
[中图分类号] R764.4 [文献标识码] A [文章编号] 1673-9701(2020)23-0016-04
An analysis for newborn deafness genetic screening of 4842 neonates in Hangzhou
WU Yafeng ZHAI Hongbo LU Jianyang LU Caijuan
Department of Obstetrics， Affiliated Hangzhou First People's Hospital， Zhejiang University School of Medicine，Hangzhou 310006， China
[Abstract] Objective To investigate the mutation frequency and type of hereditary deafness genes in neonates in Hangzhou using deafness genechip array. Methods Dried blood spots(DBS) were sampled from plantar blood of 4，842 neonates collected from February 2016 to October 2017 in Hangzhou. Four deafness genes and 14 mutation sites commonly seen in Chinese were detected using a PCR/Flow-through hybridization assay， including GJB2 gene(176-191del 16， 235 del C and 299-300 del AT)， GJB3 gene(538C>T and 547G>A)， SLC26A4 gene(IVS7-2A>G， IVS15+5GA， 2168A>G， 1229C>T， 1174A>T， 1975G>C and 1226G>A) and mitochondrial DNA 12S rRNA gene(1555 A>G and 1494C>T). Results 200 cases carried deafness gene mutations in the 4， 842 neonates， with a positive rate of 4.13%. GJB2 gene mutation was found in 58 cases， with a carrying rate of 1.20%， and SLC26A4 gene mutation in 98 cases with a carrying rate of 2.02%， Mitochondrial DNA 12S rRNA mutation in 19 cases with the carrying rate of 0.39%， and GJB3 gene mutation in 31 cases with the carrying rate of 0.64%. It was found that 195 cases carrying deafness gene mutations initially passed newborn hearing screening， accounting for 97.50% of the 200 cases. Conclusion Deafness gene screening is a suitable supplementary measure in the existing hearing screening system， which is of great significance for early diagnosis， prevention and treatment for hereditary nonsyndromic deafness.
[Key words] Deafness gene; Hearing screening; Gene mutation; Hereditary nonsyndromic deafness, 百拇医药(吴雅枫 翟洪波 鲁建央 鲁才娟)