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Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss |
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| Authors: | Chen Peiwei Chen Hui Fu Siqing Chen Guanming Dong Jiashu |
| Affiliation: | a Department of Pediatrics, Central Hospital of Enshi Tujia and Miao Autonomous Prefecture, 445000 Enshi, Hubei Province, China b Department of Medical Genetics, Tongji Medical College of Huazhong University of Science and Technology, 13 Hangkong Road, 430030 Wuhan, China c Department of Otolarygology, Tongji Hospital, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China d Rehabilitation Research Center for Deaf Children, Wuhan, China |
| Abstract: | ObjectiveTo investigate the distribution of GJB6 mutations in Central Chinese population with non-syndromic hearing loss.MethodTotally 655 hearing impaired patients in Hubei province of China were screened for del(GJB6-D13S1830) deletions by using multiplex PCR and sequencing of GJB6 whole coding region.ResultThe del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort.ConclusionThe results suggest that GJB6 mutations is not a common cause among Central Chinese population and screening for the mutations of GJB6 can be ranked as unconventional deaf gene test for this population. |
| Keywords: | GJB6 gene del(GJB6-D13S1830) Non-syndromic hearing loss Chinese population |
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