Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China |
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Authors: | Yajie Lu Dachun Dai Zhibin Chen Xin Cao Xingkuan Bu Qinjun Wei Guangqian Xing |
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Institution: | aDepartment of Biotechnology, Nanjing Medical University, Nanjing, Jiangsu 210029, China;bDepartment of Otolaryngology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu 210029, China |
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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, tRNASer(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, re spectively. The results indicate the necessity of genetic screening for mutations of these causative genes in Chi nese population with nonsyndromic hearing loss. |
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Keywords: | nonsyndromic hearing loss GJB2 GJB3 GJB6 SLC26A4 SLC26A5 mitochondrial DNA gene mutation |
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