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

Authors: Lu, Y  Dai, D  Chen, Z  Cao, X  Bu, X  Wei, Q  Xing, G 
Citation: Lu Y, etal., J Biomed Res. 2011 Sep;25(5):309-18. doi: 10.1016/S1674-8301(11)60042-0.
Pubmed: (View Article at PubMed) PMID:23554706
DOI: Full-text: DOI:10.1016/S1674-8301(11)60042-0

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.


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RGD Object Information
RGD ID: 7364803
Created: 2013-09-30
Species: All species
Last Modified: 2013-09-30
Status: ACTIVE


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