AUNX1基因座位内的听神经病家系GRIA3基因突变分析

Analyzing GRIA3 Gene Mutations Located in AUNX1 Locus in a Chinese Pedigree with Auditory Neuropathy

刘穹;关静;李庆忠;郭维;兰兰;韩东一;王秋菊;

1:解放军总医院耳鼻咽喉-头颈外科解放军耳鼻咽喉科研究所

2:复旦大学附属眼耳鼻喉科医院耳鼻咽喉科

3:国家人类基因组北方中心

摘要
目的在定位于AUNX1基因座位内的非综合征型听神经病家系中进行GRIA3基因突变检测,分析基因与该家系表型的关系。方法AUNX1家系共有43人,其中听神经病患者7人,听力正常36人。GRIA3基因共有16个外显子,针对GRIA3基因的全部编码序列(第2~16外显子)设计15对引物,进行PCR扩增,对扩增产物进行2%的琼脂糖凝胶电泳,检测其纯度、浓度,应用PCR产物直接测序法进行基因突变检测;使用DNAStar软件进行测序序列的对比分析,检测基因突变。结果在GRIA3基因第9外显子上检测到一个同义突变1200T>C(N400N),家系43人中5人检测了此位点,其中1人(听力正常男性)出现了这种变化。在距离第6个外显子前的第16个核苷酸的内含子(DNA第210 646位)中检测到T>C纯合和T/C杂合两种改变,家系43人中14人(均为听力正常)发生T>C纯合突变,10人(均为听力正常)发生T/C杂合突变。结论在AUNX1家系成员中检测到两个位点的三种碱基改变(1200T>C,210646T>C纯合或210646T/C杂合),没有引起氨基酸的改变,考虑GRIA3基因可能不是AUNX1听神经病家系的致病基因,需进一步研究探索。
关键词
AUNX1基因座;听神经病家系;GRIA3基因;突变
基金项目(Foundation):
国家863项目(2006AA02Z181);; 国家自然基金面上项目(30470956,30572016&30672310);; 高等学校全国优秀博士学位论文作者专项资金资助项目(200463);; 军队“十一五”杰出人才项目(06J018);; 北京市科技计划重大项目(D0906005040291);; 国家973项目(2007CB507400);; 北京市重大专项课题项目(7070002);; 国家"十一五"科技支撑计划(2006BAI02B06&2007BAI18B12)联合资助
作者
刘穹;关静;李庆忠;郭维;兰兰;韩东一;王秋菊;
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