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BioMed Research International
Volume 2015, Article ID 318727, 8 pages
http://dx.doi.org/10.1155/2015/318727
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.

Linked References

  1. C. C. Morton and W. E. Nance, “Newborn hearing screening—a silent revolution,” The New England Journal of Medicine, vol. 354, no. 20, pp. 2151–2164, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. R. Birkenhäger, N. Lüblinghoff, E. Prera, C. Schild, A. Aschendorff, and S. Arndt, “Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene,” The American Journal of Medical Genetics Part A, vol. 152, no. 7, pp. 1798–1802, 2010. View at Publisher · View at Google Scholar · View at Scopus
  3. N. Hilgert, R. J. H. Smith, and G. van Camp, “Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?” Mutation Research—Reviews in Mutation Research, vol. 681, no. 2-3, pp. 189–196, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. D. P. Kelsell, J. Dunlop, H. P. Stevens et al., “Connexin 26 mutations in hereditary non-syndromic sensorineural deafness,” Nature, vol. 387, no. 6628, pp. 80–83, 1997. View at Publisher · View at Google Scholar · View at Scopus
  5. I. del Castillo, M. Villamar, M. A. Moreno-Pelayo et al., “A deletion involving the connexin 30 gene in nonsyndromic hearing impairment,” The New England Journal of Medicine, vol. 346, no. 4, pp. 243–249, 2002. View at Publisher · View at Google Scholar · View at Scopus
  6. A. Kenneson, K. V. N. Braun, and C. Boyle, “GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review,” Genetics in Medicine, vol. 4, no. 4, pp. 258–274, 2002. View at Publisher · View at Google Scholar · View at Scopus
  7. S. Maeda and T. Tsukihara, “Structure of the gap junction channel and its implications for its biological functions,” Cellular and Molecular Life Sciences, vol. 68, no. 7, pp. 1115–1129, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. T. Kikuchi, R. S. Kimura, D. L. Paul, T. Takasaka, and J. C. Adams, “Gap junction systems in the mammalian cochlea,” Brain Research Reviews, vol. 32, no. 1, pp. 163–166, 2000. View at Publisher · View at Google Scholar · View at Scopus
  9. J. Sun, S. Ahmad, S. Chen et al., “Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts,” The American Journal of Physiology - Cell Physiology, vol. 288, no. 3, pp. C613–C623, 2005. View at Publisher · View at Google Scholar · View at Scopus
  10. H.-B. Cheng, Z.-B. Chen, Q.-J. Wei, Y.-J. Lu, G.-Q. Xing, and X. Cao, “Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population,” Chinese Medical Journal, vol. 122, no. 13, pp. 1549–1553, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. D. G. Wang, J.-B. Fan, C.-J. Siao et al., “Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome,” Science, vol. 280, no. 5366, pp. 1077–1082, 1998. View at Publisher · View at Google Scholar · View at Scopus
  12. The International HapMap Consortium, “A second generation human haplotype map of over 3.1 million SNPs,” Nature, vol. 449, no. 7164, pp. 851–861, 2007. View at Google Scholar
  13. N. Noda, H. Tani, N. Morita et al., “Estimation of single-nucleotide polymorphism allele frequency by alternately binding probe competitive polymerase chain reaction,” Analytica Chimica Acta, vol. 608, no. 2, pp. 211–216, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. S. D. J. Pena, L. Bastos-Rodrigues, J. R. Pimenta, and S. P. Bydlowski, “DNA tests probe the genomic ancestry of Brazilians,” Brazilian Journal of Medical and Biological Research, vol. 42, no. 10, pp. 870–876, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. J. C. Barrett, B. Fry, J. Maller, and M. J. Daly, “Haploview: analysis and visualization of LD and haplotype maps,” Bioinformatics, vol. 21, no. 2, pp. 263–265, 2005. View at Publisher · View at Google Scholar · View at Scopus
  16. J. Sambrook, E. F. Fritsch, and T. Maniatis, Molecular Cloning: A Laboratory Manual, Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA, 2nd edition, 1989.
  17. S. Little, “Unit. 9.8.1 amplification-refractory mutation system (ARMS) analysis of point mutations,” in Current Protocols in Human Genetics, chapter 7, 2001. View at Publisher · View at Google Scholar
  18. C. R. Newton, A. Graham, L. E. Heptinstall et al., “Analysis of any point mutation in DNA. The aplivication refractory mutation system (ARMS),” Nucleic Acids Research, vol. 17, no. 7, pp. 2503–2516, 1989. View at Publisher · View at Google Scholar · View at Scopus
  19. R. Okimoto and J. B. Dodgson, “Improved PCR amplification of multiple specific alleles (PAMSA) using internally mismatched primers,” BioTechniques, vol. 21, no. 1, pp. 20–26, 1996. View at Google Scholar · View at Scopus
  20. T. Antoniadi, R. Rabionet, C. Kroupis et al., “High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness,” Clinical Genetics, vol. 55, no. 5, pp. 381–382, 1999. View at Google Scholar · View at Scopus
  21. S. P. Dickson, K. Wang, I. Krantz, H. Hakonarson, and D. B. Goldstein, “Rare variants create synthetic genome-wide associations,” PLoS Biology, vol. 8, no. 1, Article ID e1000294, 2010. View at Publisher · View at Google Scholar · View at Scopus
  22. M. Tekin, K. S. Arnos, and A. Pandya, “Advances in hereditary deafness,” The Lancet, vol. 358, no. 9287, pp. 1082–1090, 2001. View at Publisher · View at Google Scholar · View at Scopus
  23. G. Minarik, E. Ferakova, A. Ficek, H. Polakova, and L. Kadasi, “GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis,” Clinical Genetics, vol. 68, no. 6, pp. 554–557, 2005. View at Publisher · View at Google Scholar · View at Scopus
  24. L. van Laer, P.-I. Carlsson, N. Ottschytsch et al., “The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss,” Human Mutation, vol. 27, no. 8, pp. 786–795, 2006. View at Publisher · View at Google Scholar · View at Scopus
  25. Q.-P. Liu, L.-S. Wu, F.-F. Li et al., “The association between GJB2 gene polymorphism and psoriasis: a verification study,” Archives of Dermatological Research, vol. 304, no. 9, pp. 769–772, 2012. View at Publisher · View at Google Scholar · View at Scopus
  26. Q. Yang, H. Liu, L. Qu et al., “Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris,” British Journal of Dermatology, vol. 168, no. 5, pp. 1060–1065, 2013. View at Publisher · View at Google Scholar · View at Scopus
  27. D. Salomon, E. Masgrau, S. Vischer et al., “Topography in mammalian connexins in human skin,” Journal of Investigative Dermatology, vol. 103, no. 2, pp. 240–247, 1994. View at Publisher · View at Google Scholar · View at Scopus
  28. E. Wilch, M. Zhu, K. B. Burkhart et al., “Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele,” The American Journal of Human Genetics, vol. 79, no. 1, pp. 174–179, 2006. View at Publisher · View at Google Scholar · View at Scopus
  29. G.-J. Wang, P. Yang, and H.-G. Xie, “Gene variants in noncoding regions and their possible consequences,” Pharmacogenomics, vol. 7, no. 2, pp. 203–209, 2006. View at Publisher · View at Google Scholar · View at Scopus
  30. E. A. Grzybowska, A. Wilczynska, and J. A. Siedlecki, “Breakthroughs and views: regulatory functions of 3′UTRs,” Biochemical and Biophysical Research Communications, vol. 288, no. 2, pp. 291–295, 2001. View at Publisher · View at Google Scholar · View at Scopus
  31. B. Conne, A. Stutz, and J.-D. Vassalli, “The 3′ untranslated region of messenger RNA: a molecular ‘hotspot’ for pathology?” Nature Medicine, vol. 6, no. 6, pp. 637–641, 2000. View at Publisher · View at Google Scholar · View at Scopus
  32. B. Mazumder, V. Seshadri, and P. L. Fox, “Translational control by the 3-UTR: the ends specify the means,” Trends in Biochemical Sciences, vol. 28, no. 2, pp. 91–98, 2003. View at Publisher · View at Google Scholar · View at Scopus
  33. J. T. Mendell and H. C. Dietz, “When the message goes awry: disease-producing mutations that influence mRNA content and performance,” Cell, vol. 107, no. 4, pp. 411–414, 2001. View at Publisher · View at Google Scholar · View at Scopus
  34. R. Ramsebner, M. Ludwig, T. Lucas et al., “Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study,” Otology & Neurotology, vol. 34, no. 4, pp. 650–656, 2013. View at Publisher · View at Google Scholar · View at Scopus
  35. R. S. Abreu-Silva, D. Rincon, A. R. V. R. Horimoto et al., “The search of a genetic basis for noise-induced hearing loss (NIHL),” Annals of Human Biology, vol. 38, no. 2, pp. 210–218, 2011. View at Publisher · View at Google Scholar · View at Scopus
  36. S. T. Sherry, M.-H. Ward, M. Kholodov et al., “DbSNP: the NCBI database of genetic variation,” Nucleic Acids Research, vol. 29, no. 1, pp. 308–311, 2001. View at Publisher · View at Google Scholar · View at Scopus