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Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss
Joint Authors
Grillo, Ana Paula
de Oliveira, Flávia Marcorin
de Carvalho, Gabriela Queila
Medrano, Ruan Felipe Vieira
da Silva-Costa, Sueli Matilde
de Oliveira, Camila Andréa
Sartorato, Edi Lúcia
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-17
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Grillo, Ana Paula& de Oliveira, Flávia Marcorin& de Carvalho, Gabriela Queila& Medrano, Ruan Felipe Vieira& da Silva-Costa, Sueli Matilde& Sartorato, Edi Lúcia…[et al.]. 2015. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International،Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
Modern Language Association (MLA)
Grillo, Ana Paula…[et al.]. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International No. 2015 (2015), pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
American Medical Association (AMA)
Grillo, Ana Paula& de Oliveira, Flávia Marcorin& de Carvalho, Gabriela Queila& Medrano, Ruan Felipe Vieira& da Silva-Costa, Sueli Matilde& Sartorato, Edi Lúcia…[et al.]. Single Nucleotide Polymorphisms of the GJB2 and GJB6 Genes Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-8.
https://search.emarefa.net/detail/BIM-1055040
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1055040