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

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

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

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

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

Authors

Yajie Lu¹, Dachun Dai, Zhibin Chen, Xin Cao, Xingkuan Bu, Qinjun Wei, Guangqian Xing

Affiliation

¹ Department of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China;

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.

Keywords: GJB2; GJB3; GJB6; SLC26A4; SLC26A5; gene mutation; mitochondrial DNA; nonsyndromic hearing loss.