CN101363054B - 体外检测遗传性耳聋相关缝隙连接蛋白26基因gjb2突变的方法及检测用试剂盒 - Google Patents
体外检测遗传性耳聋相关缝隙连接蛋白26基因gjb2突变的方法及检测用试剂盒 Download PDFInfo
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Abstract
Description
基因型 | 人数 |
9G>A/IVS1+1G>A | 1 |
235delC/257C>G | 1 |
235delC/299delAT | 2 |
235delC/wide type | 1 |
235delC/235delC | 1 |
299delAT/299delAT | 1 |
176del16/139G>T | 1 |
wide type/wide type | 42 |
基因型 | 人数 |
235delC/235delC | 4 |
235delC/299delAT | 1 |
wide type/wide type | 20 |
基因型 | 人数 |
235delC/IVS1+1G>A | 1 |
235delC/299delAT | 1 |
235delC/235delC | 1 |
176del16/wide type | 1 |
wide type/wide type | 21 |
Claims (5)
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CN2008101179475A CN101363054B (zh) | 2008-08-18 | 2008-08-18 | 体外检测遗传性耳聋相关缝隙连接蛋白26基因gjb2突变的方法及检测用试剂盒 |
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CN2008101179475A CN101363054B (zh) | 2008-08-18 | 2008-08-18 | 体外检测遗传性耳聋相关缝隙连接蛋白26基因gjb2突变的方法及检测用试剂盒 |
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CN101363054A CN101363054A (zh) | 2009-02-11 |
CN101363054B true CN101363054B (zh) | 2011-12-21 |
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Families Citing this family (7)
Publication number | Priority date | Publication date | Assignee | Title |
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CN102453761B (zh) * | 2010-10-27 | 2014-07-09 | 博奥生物集团有限公司 | 一种磁珠与发光体共标记以检测遗传性耳聋的试剂盒 |
CN102465174A (zh) * | 2010-11-09 | 2012-05-23 | 王宝恒 | 荧光定量pcr技术检测gjb2基因突变的方法及其试剂盒 |
CN102304584A (zh) * | 2011-09-15 | 2012-01-04 | 上海交通大学医学院附属新华医院 | 一种用于诊断迟发性耳聋的GJB2基因p.V37I突变诊断试剂盒 |
CN104357578A (zh) * | 2014-12-03 | 2015-02-18 | 苏州市立医院 | 新的耳聋相关基因突变多位点检测体系及试剂盒 |
CN106771242B (zh) * | 2016-12-16 | 2019-09-06 | 石河子大学 | 一种证明硫化氢与缝隙连接关系的实验方法 |
CN109554463A (zh) * | 2018-12-29 | 2019-04-02 | 中国人民解放军第四军医大学 | 一种感音神经性耳聋致病基因gjb2突变检测用试剂盒 |
CN109825577A (zh) * | 2019-04-12 | 2019-05-31 | 中国人民解放军第四军医大学 | 一种感音神经性耳聋致病基因gjb2突变检测试剂盒 |
Citations (1)
Publication number | Priority date | Publication date | Assignee | Title |
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CN1873027A (zh) * | 2006-03-30 | 2006-12-06 | 韩东一 | 一种用于体外诊断非综合征性常染色体隐性遗传耳聋基因gjb2突变的引物及其应用 |
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Publication number | Priority date | Publication date | Assignee | Title |
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CN1873027A (zh) * | 2006-03-30 | 2006-12-06 | 韩东一 | 一种用于体外诊断非综合征性常染色体隐性遗传耳聋基因gjb2突变的引物及其应用 |
Non-Patent Citations (4)
Title |
---|
H-H M Dahl等.The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.《J Med Genet》.2006,第43卷第850-855页. * |
李琦等.新疆地区维吾尔族和汉族非综合征性耳聋GJB2基因突变研究.《中华医学杂志》.2007,第87卷(第42期),第2977-2981页. * |
袁永一等.赤峰市特教学校耳聋患者GJ B2和GJ B3及GJ B6基因突变分析.《临床耳鼻咽喉头颈外科杂志》.2008,第22卷(第1期),第14-21页. * |
韩明鲲等.散发感音神经性聋患者中GJB2基因突变检测的临床意义.《中国耳鼻咽喉头颈外科》.2008,第15卷(第4期),第186-189页. * |
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