一种用于非综合征性听力损失儿童同时进行多基因突变筛查的快速方法。
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
作者信息
Du Wan, Cheng Jing, Ding Hui, Jiang Zhengwen, Guo Yufen, Yuan Huijun
机构信息
Department of Otolaryngology-Head and Neck Surgery, the Second Hospital of Lanzhou University, Lanzhou, Gansu, People's Republic of China; Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Department of Otolaryngology-Head and Neck Surgery, Chinese People's Liberation Army Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
出版信息
Genomics. 2014 Oct;104(4):264-70. doi: 10.1016/j.ygeno.2014.07.009. Epub 2014 Aug 19.
Hearing loss (HL) is a common genetically heterogeneous sensory disorder, occurring in 1 to 3 per 1000 live births. In spite of the extraordinary genetic heterogeneity, variants in GJB2, MT-RNR1, and SLC26A4 genes have been considered as the main reasons of nonsyndromic hearing loss in Chinese population. We developed a rapid multiplex genetic screening system called the SNPscan assay technique which could detect the 115 mutations of the above three genes. This technique is a high-throughput and cost-saving SNP genotyping method. We found that the carrier rate of mutations in the GJB2 gene, MT-RNR1 gene, and SLC26A4 gene was 26.21%, 1.86%, and 25.46% of the patients with nonsyndromic hearing loss, respectively. Using this method, up to 50% of the patients in our study were identified to have hereditary HL caused by mutations in the three genes. It is applicable to not only genetic diagnosis of HL, but also molecular screening of other inherited diseases.
听力损失（HL）是一种常见的遗传异质性感觉障碍，每1000例活产中发生率为1至3例。尽管存在异常的遗传异质性，但在中国人群中，GJB2、MT-RNR1和SLC26A4基因的变异已被认为是非综合征性听力损失的主要原因。我们开发了一种名为SNPscan检测技术的快速多重基因筛查系统，该系统可以检测上述三个基因的115种突变。这项技术是一种高通量且节省成本的SNP基因分型方法。我们发现，在非综合征性听力损失患者中，GJB2基因、MT-RNR1基因和SLC26A4基因的突变携带率分别为26.21%、1.86%和25.46%。使用这种方法，我们研究中高达50%的患者被确定患有由这三个基因的突变引起的遗传性HL。它不仅适用于HL的基因诊断，也适用于其他遗传性疾病的分子筛查。
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