Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/235709
Type: Artigo de periódico
Title: Single Nucleotide Polymorphisms Of The Gjb2 And Gjb6 Genes Are Associated With Autosomal Recessive Nonsyndromic Hearing Loss.
Author: Grillo, Ana Paula
de Oliveira, Flávia Marcorin
de Carvalho, Gabriela Queila
Medrano, Ruan Felipe Vieira
da Silva-Costa, Sueli Matilde
Sartorato, Edi Lúcia
de Oliveira, Camila Andréa
Abstract: 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 (P < 0.05). 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.
Rights: aberto
Identifier DOI: 10.1155/2015/318727
Address: http://www.ncbi.nlm.nih.gov/pubmed/26075227
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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