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Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss.

Authors: Chen, P  Chen, H  Fu, S  Chen, G  Dong, J 
Citation: Chen P, etal., Int J Pediatr Otorhinolaryngol. 2012 Feb;76(2):265-7. doi: 10.1016/j.ijporl.2011.11.018. Epub 2011 Dec 18.
Pubmed: (View Article at PubMed) PMID:22186156
DOI: Full-text: DOI:10.1016/j.ijporl.2011.11.018

OBJECTIVE: To investigate the distribution of GJB6 mutations in Central Chinese population with non-syndromic hearing loss. METHOD: Totally 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. RESULT: The del(GJB6-D13S1830) and other mutations in GJB6 gene were not observed in our study cohort. CONCLUSION: The 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.


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RGD Object Information
RGD ID: 7364891
Created: 2013-10-08
Species: All species
Last Modified: 2013-10-08
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.