Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association
Joint Authors
Matos, Tiago Daniel
Fialho, Graça
Andrea, M. E.
Kelsell, D. P.
Rosa, H.
Caria, Helena
Simões-Teixeira, Helena
O'Neill, A.
Cascão, R.
Dias, Ó.
Source
Genetics Research International
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-10-05
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated.
However, three noncoding mutations, c.-259C>T, c.-23G>T, and c.-23+1G>A, were reported.
Also, c.-684_-675del, of uncertain pathogenicity, was found upstream of the basal promoter.
We performed a detailed analysis of GJB2 noncoding regions in Portuguese HL patients (previously screened for GJB2 coding mutations and the common GJB6 deletions) and in control subjects, by sequencing the basal promoter and flanking upstream region, exon 1, and 3'UTR.
All individuals were genotyped for c.-684_-675del and 14 SNPs.
Novel variants (c.-731C>T, c.-26G>T, c.*45G>A, and c.*985A>T) were found in controls.
A hearing individual homozygous for c.-684_-675del was for the first time identified, supporting the nonpathogenicity of this deletion.
Our data indicate linkage disequilibrium (LD) between SNPs rs55704559 (c.*168A>G) and rs5030700 (c.*931C>T) and suggest the association of c.[*168G;*931T] allele with HL.
The c.*168A>G change, predicted to alter mRNA folding, might be involved in HL.
American Psychological Association (APA)
Matos, Tiago Daniel& Simões-Teixeira, Helena& Caria, Helena& Cascão, R.& Rosa, H.& O'Neill, A.…[et al.]. 2011. Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. Genetics Research International،Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-501335
Modern Language Association (MLA)
Matos, Tiago Daniel…[et al.]. Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. Genetics Research International No. 2011 (2011), pp.1-8.
https://search.emarefa.net/detail/BIM-501335
American Medical Association (AMA)
Matos, Tiago Daniel& Simões-Teixeira, Helena& Caria, Helena& Cascão, R.& Rosa, H.& O'Neill, A.…[et al.]. Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association. Genetics Research International. 2011. Vol. 2011, no. 2011, pp.1-8.
https://search.emarefa.net/detail/BIM-501335
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-501335