[山东东部非综合征性听力损失患者中GJB2、SLC26A4、GJB3和12S rRNA基因突变分析]
[Analysis of GJB2, SLC26A4, GJB3 and 12S rRNA gene mutations among patients with nonsyndromic hearing loss from eastern Shandong].
作者信息
Sun Shiyu, Niu Linyuan, Tian Jinjun, Chen Wei, Li Yanna, Xia Ningning, Jyu Caining, Chen Xiaoli, Zhang Chunxiao, Lan Xinqiang
机构信息
Department of Medical Genetics, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China. Email:
Department of Equipment, Weihai Second Hospital Affiliated to Qingdao University (Weihai Maternity and Child Health Care Hospital), Weihai, Shandong 264200, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 May 10;36(5):433-438. doi: 10.3760/cma.j.issn.1003-9406.2019.05.005.
OBJECTIVE
To explore the characteristics of mutations of four common pathogenic genes (GJB2, SLC26A4, GJB3 and 12S rRNA) among patients with nonsyndromic hearing loss (NSHL) from eastern Shandong.
METHODS
Peripheral blood samples of 420 NSHL patients were collected, and a hereditary-deafness-gene microarray was used to detect GJB2 c.235delC, c.299-300delAT, c.35delG and c.176del16 mutations, GJB3 c.538C>T mutation, SLC26A4 c.2168A>G and c.IVS7-2A>G mutations, and 12S rRNA c.1555A>C and c.1494C>T mutations. For patients carrying single heterozygous mutations, the coding regions of the above genes were analyzed with Sanger sequencing.
RESULTS
The results of the microarray assay and Sanger sequencing showed that 84 patients (20.00%) carried GJB2 mutations, with c.235delC (16.43%) and c.299-300delAT (7.86%) being most common. Seventy-five patients (17.86%) carried SLC26A4 mutations, for which c.IVS7-2A>G accounted for 15.71%. In addition, 5.95% of patients carried 12S rRNA mutations. Only one patient was found to carried GJB3 mutation (c.538C>T).
CONCLUSION
Common pathogenic mutations for NSHL in eastern Shandong included GJB2 c.235delC and SLC26A4 c.IVS7-2A>G. Of note, 5.95% of patients were due to 12S rRNA m.1555A>G mutation, which gave a frequency greater than other regions of China.
目的
探讨山东东部非综合征性听力损失（NSHL）患者中4种常见致病基因（GJB2、SLC26A4、GJB3和12S rRNA）的突变特征。
方法
收集420例NSHL患者的外周血样本，采用遗传性耳聋基因芯片检测GJB2基因的c.235delC、c.299 - 300delAT、c.35delG和c.176del16突变，GJB3基因的c.538C>T突变，SLC26A4基因的c.2168A>G和c.IVS7 - 2A>G突变，以及12S rRNA基因的c.1555A>C和c.1494C>T突变。对于携带单杂合突变的患者，采用Sanger测序法分析上述基因的编码区。
结果
基因芯片检测和Sanger测序结果显示，84例患者（20.00%）携带GJB2基因突变，其中c.235delC（16.43%）和c.299 - 300delAT（7.86%）最为常见。75例患者（17.86%）携带SLC26A4基因突变，其中c.IVS7 - 2A>G占15.71%。此外，5.95%的患者携带12S rRNA基因突变。仅发现1例患者携带GJB3基因突变（c.538C>T）。
结论
山东东部NSHL的常见致病突变包括GJB2基因的c.235delC和SLC26A4基因的c.IVS7 - 2A>G。值得注意的是，5.95%的患者是由12S rRNA基因的m.1555A>G突变所致，该突变频率高于中国其他地区。
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