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

目的探讨拷贝数变异是否为非综合征性前庭水管扩大患者的致病机制之一。方法采用CNVs芯片对10例未检测到任何SLC26A4基因突变的患者进行拷贝数变异的筛查,并与正常基因组进行对照。结果 10例未检测到任何SLC26A4基因突变的非综合征性前庭水管扩大患者全基因组均未发现有明显的致病性拷贝数变异存在。结论CNVs可能不是中国人群非综合征性前庭水管扩大患者的致病机制。

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.