Liu Y L, Wang L L, Wen J, Mei L Y, He C F, Jiang L, Feng Y
Department of Otolaryngology-Head and Neck Surgery, Province Key Laboratory of Otolaryngology Critical Diseases, Xiangya Hospital, Central South University, Changsha 410008, ChinaFeng Yong is working at the Department of Otolaryngology-Head and Neck Surgery, Changsha Central Hospital, Nanhua University, Changsha 410008, China.
Zhonghua Yi Xue Za Zhi. 2021 Jan 12;101(2):103-107. doi: 10.3760/cma.j.cn112137-20201010-02794.
To explore the application value of high-throughput gene detection method of copy number variations (CNV) in the diagnosis of enlarged vestibular aqueduct (EVA). A total of 46 nonsyndromic hearing loss patients with EVA were recruited between May 2014 and December 2016 from Department of Otolaryngology of Xiangya Hospital, Central South University. A high-throughput multiplex analysis method based on double ligation and multiple fluorescent PCR was designed and performed to detect CNV in the three EVA-related genes (SLC26A4, FOXI1 and KCNJ10). The data were analyzed by GeneMapper v4.1. Healthy volunteers (=100) were selected as normal controls. A total of 46 EVA patients were detected (32 males, 14 females, aged 1 to 26 years). In 4 EVA patients, deletions of exons 1-3 of SLC26A4 gene (4/46, 8.7%) were detected, which were not reported in the database of genomic variants (DGV), and were absent in 100 normal controls. There was no CNV detected in FOXI1 and KCNJ10 in the study. In the current study, three known EVA-related genes were designed as the target area for CNV detection by high-throughput ligation-dependent probe amplification (HLPA) analysis. This method can be used as a supplementary analysis of point mutation detection of hearing loss, which helps achieve the accurate genetic diagnosis of EVA.
探讨拷贝数变异（CNV）高通量基因检测方法在大前庭导水管综合征（EVA）诊断中的应用价值。2014年5月至2016年12月，从中南大学湘雅医院耳鼻咽喉科招募了46例非综合征性听力损失的EVA患者。设计并采用基于双连接和多重荧光PCR的高通量多重分析方法，检测3个与EVA相关基因（SLC26A4、FOXI1和KCNJ10）的CNV。数据通过GeneMapper v4.1进行分析。选取100名健康志愿者作为正常对照。共检测46例EVA患者（男32例，女14例，年龄1至26岁）。在4例EVA患者中，检测到SLC26A4基因外显子1-3缺失（4/46，8.7%），基因组变异数据库（DGV）中未报道，100名正常对照中也未出现。本研究中FOXI1和KCNJ10未检测到CNV。在本研究中，将3个已知的与EVA相关基因设计为通过高通量连接依赖探针扩增（HLPA）分析检测CNV的目标区域。该方法可作为听力损失点突变检测的补充分析，有助于实现EVA的准确基因诊断。
