SNPscan在常见听力损失基因遗传筛查中的应用
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
作者信息
Gao Zixuan, Lu Yu, Ke Jia, Li Tao, Hu Ping, Song Yu, Xu Chiyu, Wang Jie, Cheng Jing, Zhang Lei, Duan Hong, Yuan Huijun, Ma Furong
机构信息
Department of Otolaryngology, 3rd Hospital of Peking University, Beijing, China.
Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
出版信息
PLoS One. 2016 Oct 28;11(10):e0165650. doi: 10.1371/journal.pone.0165650. eCollection 2016.
The current study reports the successful application of a fast and efficient genetic screening system for common hearing loss (HL) genes based on SNPscan genotyping technology. Genetic analysis of 115 variants in common genes related to HL, GJB2, SLC26A4 and MT-RNR, was performed on 695 subjects with non-syndromic hearing loss (NSHL) from the Northern China. The results found that 38.7% (269/695) of cases carried bi-allelic pathogenic variants in GJB2 and SLC26A4 and 0.7% (5/695) of cases carried homoplasmic MT-RNR1 variants. The variant allele frequency of GJB2, SLC26A4 and MT-RNR1 was 19.8% (275/1390), 21.9% (304/1390), and 0.86% (6/695), respectively. This approach can explain ~40% of NSHL cases and thus is a useful tool for establishing primary molecular diagnosis of NSHL in clinical genetics.
本研究报告了一种基于SNPscan基因分型技术的快速高效的常见听力损失（HL）基因遗传筛查系统的成功应用。对来自中国北方的695例非综合征性听力损失（NSHL）患者进行了与HL相关的常见基因GJB2、SLC26A4和MT-RNR中115个变异的遗传分析。结果发现，38.7%（269/695）的病例在GJB2和SLC26A4中携带双等位基因致病性变异，0.7%（5/695）的病例携带纯质MT-RNR1变异。GJB2、SLC26A4和MT-RNR1的变异等位基因频率分别为19.8%（275/1390）、21.9%（304/1390）和0.86%（6/695）。这种方法可以解释约40%的NSHL病例，因此是临床遗传学中建立NSHL初步分子诊断的有用工具。
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