中华耳科学杂志Issue(1)：23-25,3.DOI:10.3969/j.issn.1672-2922.2014.01.006
非综合征性前庭水管扩大患者拷贝数变异基因芯片筛查的分析
The analysis of Cytogenetics microarray screening in patients with non-syndromic Enlarged Vestibular Aqueduct
摘要
Abstract
Objective To investigate whether the copy number variations (CNVs) is one of pathogenic mechanism in patients with no-syndromic Enlarged Vestibular Aqueduct(n-EVA) in Chinese people. Methods CNVs microarray was ap-plied to screening 10 patients with non-syndromic EVA in which any of SLC26A4 gene mutations were not detected, and the result was compared with normal whole genome. Results The significant pathogenic copy number variation was not found in the 10 cases of patients without SLC26A4 gene mutations. Conclusion The copy number variation might not a pathogenic mechanism in non-syndromic EVA in Chinese people.关键词
前庭水管扩大/拷贝数变异/芯片/突变Key words
Enlarged vestibular aqueduct syndrome/Copy number variations/microarray/Mutation分类
医药卫生引用本文复制引用
赵建东,袁永一,王国建,黄莎莎,戴朴..非综合征性前庭水管扩大患者拷贝数变异基因芯片筛查的分析[J].中华耳科学杂志,2014,(1):23-25,3.基金项目
解放军总医院苗圃基金（12KMM32），国家十二五支撑项目（2012BAI09B00，2012BAI12B01）；国家自然科学基金重点项目（81230020）；卫生部行业专项基金（201202005）；国家自然科学基金面上项目（81371096，81371098）；国家自然科学基金青年项目（30801285）；北京市自然科学基金面上项目（7132177，7122172），北京市科技新星计划（2009B34，2010B081）。国家高技术研究发展计划 （）
