淄博市23689例新生儿耳聋基因筛查结果分析

Genetic Screening of Deafness Gene for 23 689 Newborns

韩佳佳;胡林;刘轶;魏欣;牟凯;

1:淄博市妇幼保健院产前诊断中心

2:淄博市第四人民医院检验科

摘要
目的探讨淄博市新生儿常见耳聋基因突变检出率,为遗传性聋的防治和生育咨询指导提供参考。方法采集淄博市2019年1~11月出生的共23 689例新生儿足跟血,采用微阵列基因芯片法对中国人群4个常见耳聋基因(GJB2、SLC26A4、GJB3和线粒体DNA 12SrRNA)的15个突变位点(GJB2:c.35 del G、c.235 del C、c.299 del AT、c.176 del 16;GJB3:c.538 C>T;SLC26A4:c.2168 A>G、c.IVS7-2 A>G、c.IVS15+5 G>A、c.1975 G>C、c.2027 T>A、c.1226 G>A、c.1229 C>T、c.1174 A>T;线粒体DNA12SrRNA:m.1495 C>T、m.1555 A>G)进行检测,分析各基因突变的检出率及性别差异。结果 23 689例样本中共有1 162例(4.90%,1 162/23 689)新生儿检测到耳聋基因突变,其中GJB2基因608例(52.32%,608/1 162)、SLC26A4基因396例(34.08%)、GJB3基因96例(8.26%,96/1 162)和线粒体DNA 12SrRNA基因45例(3.87%,45/1 162)。不同性别新生儿之间基因突变检出率(男性4.92%,女性4.89%)差异无统计学意义(P>0.05)。结论淄博市新生儿GJB2基因突变检出率最高,其次是SLC26A4基因突变,GJB3基因和线粒体DNA 12SrRNA基因突变较为少见。
关键词
新生儿;遗传性聋;基因;突变;筛查
基金项目(Foundation):
山东省医药卫生科技发展计划项目(2017WS380);; 国家重点研发计划(2018YFC0114703)
作者
韩佳佳;胡林;刘轶;魏欣;牟凯;
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