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BioMed Research International
Volume 2015, Article ID 318727, 8 pages
Research Article

Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss

1Laboratory of Genetics and Molecular Biology, Graduate Program in Biomedical Sciences, Centro Universitário Hermínio Ometto (UNIARARAS), Avenida Maximiliano Barutto No. 500, Jardim Universitário, 13607339 Araras, SP, Brazil
2School of Biology, Centro Universitário Hermínio Ometto (UNIARARAS), 13607339 Araras, SP, Brazil
3School of Biomedicine, Centro Universitário Hermínio Ometto (UNIARARAS), 13607339 Araras, SP, Brazil
4Center of Molecular Biology and Genetic Engineering (CBMEG), Molecular Biology Laboratory, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil

Received 7 October 2014; Accepted 1 March 2015

Academic Editor: Weidong Le

Copyright © 2015 Ana Paula Grillo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Single nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL). The SNPs rs3751385 (C/T), rs7994748 (C/T), rs7329857 (C/T), rs7987302 (G/A), rs7322538 (G/A), rs9315400 (C/T), rs877098 (C/T), rs945369 (A/C), and rs7333214 (T/G) were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (). No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.