对来自中国南京市的非综合征性听力损失患者进行分子筛查。

Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China.

作者信息

Lu Yajie, Dai Dachun, Chen Zhibin, Cao Xin, Bu Xingkuan, Wei Qinjun, Xing Guangqian

机构信息

Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China;

出版信息

J Biomed Res. 2011 Sep;25(5):309-18. doi: 10.1016/S1674-8301(11)60042-0.

DOI:10.1016/S1674-8301(11)60042-0

PMID:23554706

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3596727/

Abstract

Hearing loss is the most frequent sensory disorder involving a multitude of factors, and at least 50% of cases are due to genetic etiology. To further characterize the molecular etiology of hearing loss in the Chinese population, we recruited a total of 135 unrelated patients with nonsyndromic sensorineural hearing loss (NSHL) for mutational screening of GJB2, GJB3, GJB6, SLC26A4, SLC26A5 IVS2-2A>G and mitochondrial 12SrRNA, tRNA(Ser(UCN)) by PCR amplification and direct DNA sequencing. The carrier frequencies of deafness-causing mutations in these patients were 35.55% in GJB2, 3.70% in GJB6, 15.56% in SLC26A4 and 8.14% in mitochondrial 12SrRNA, respectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chinese population with nonsyndromic hearing loss.

摘要

听力损失是最常见的感觉障碍，涉及多种因素，并且至少50%的病例归因于遗传病因。为了进一步明确中国人群听力损失的分子病因，我们共招募了135例非综合征性感音神经性听力损失（NSHL）的无关患者，通过PCR扩增和直接DNA测序对GJB2、GJB3、GJB6、SLC26A4、SLC26A5 IVS2-2A>G和线粒体12SrRNA、tRNA(Ser(UCN))进行突变筛查。这些患者中致聋突变的携带频率在GJB2中为35.55%，在GJB6中为3.70%，在SLC26A4中为15.56%，在线粒体12SrRNA中为8.14%。结果表明，对中国非综合征性听力损失人群进行这些致病基因的突变基因筛查很有必要。