Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/243352
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
Flavia Marcorin; de Carvalho
Gabriela Queila; Vieira Medrano
Ruan Felipe; da Silva-Costa
Sueli Matilde; Sartorato
Edi Lucia; de Oliveira
Camila Andrea
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.
Subject: Messenger-rna
Mutations
Impairment
Deafness
Dna
Identification
Amplification
Population
Expression
Variants
Country: NEW YORK
Editor: HINDAWI PUBLISHING CORPORATION
Rights: aberto
Identifier DOI: 10.1155/2015/318727
Address: http://www.hindawi.com/journals/bmri/2015/318727/
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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