Fulltext
The full text of this article is available on the PDF file.
Zahedan Journal of Research in Medical Sciences
The Official Journal of Zahedan University of Medical Sciences
e-ISSN 2383-2894
Outline
The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin)
Authors
Marzieh Abolhasani1, Effat Farrokhi2, Mohsen Noorbakhsh3, Maryam Taherzadeh2, Fatemeh Azadegan1, Azam Asgari4, Morteza Hashmzadeh5,*
1BSc of Genetic, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.
2MSc of Biochemistery, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.
3Medical Student, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.
4MSc of Animal Physiology, Plant Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran
5Professor of Human Genetics, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.
*Corresponding Author: Professor of Human Genetics, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran. Email: [email protected]
Published online:Aug 26, 2010
Article type:Research Article
Received:Feb 27, 2010
Accepted:Jul 17, 2010
How to Cite:Abolhasani M, Farrokhi E, Noorbakhsh M, Taherzadeh M, Azadegan F, et al. The contribution of autosomaul recessive non-syndromic deafness to DFNB59 mutations (Pejvakin). Zahedan J Res Med Sci. 2010;12(3):e94295. doi:
Abstract
Background : Hearing loss is a common disorder affecting millions of individuals worldwide with opproximately 1 in 1000 newborns. A novel gene, DFNB59 encods Pejvakin has been recently shown to cause neural deafness. The aim of this study was to determine the frequency of DFNB59 gene mutations in 93 deaf pupils in Sistan & Baluchestan province.
Materials and Method : We investigated the frequency of DFNB59 gene mutations in the coding regions (exons 2-7) of the gene.DNA was extracted following the standard phenol chloroform procedure , the frequency of DFNB59 gene mutations was investigated using PCR-SSCP /HA strategy.
Results : No pathogenic variant was detected in samples studied. However, one polymorphism including 793C>G was determined in 3 of 93 (3.2%) subject examined.
Conclusion : The results of this study showed no association between DFNB59 gene mutations and hearing loss in Sistan va Baluchestan province
References
- 1.The References of this article are available on the PDF file.
Copyright
© 2010, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
Similar Articles
29
Jun
2019
Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province
Anoosh Naghavi,
K Nishimura,
K Kahrizi,
Y Riazalhosseini,
H Suraki Aliabadib,
N Mahdieh
,et al.Naghavi A, Nishimura K, Kahrizi K, Riazalhosseini Y, Suraki Aliabadib H, et al. Prevalence of GJB2 mutations among patients with autosomal recessive non syndromic hearing loss in Sistan and Baloochestan province. Zahedan J Res Med Sci. 2005;7(2):e94965. doi:
19
Sep
2005
Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4)
N Mahdieh,
C Nishimura,
K Ali-Madadi,
Y Yazdan,
S Kazemi,
Y Riazalhosseini
,et al.Mahdieh N, Nishimura C, Ali-Madadi K, Yazdan Y, Kazemi S, et al. Frequency of Connexin26 Gene Mutations in Autosomal Recessive Non-syndromic Deafness in Kermanshah(2002-4). J Kermanshah Univ Med Sci. 2005;9(2):e81569. doi:
13
May
2011
Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran
Fartemeh Azadegan-Dehkordi,
Mostafa Montazer-Zohouri,
Effat Farrokhi,
S.Abolfateh Shirmardi,
Mojtaba Saedi-Marghmaleki,
Zohreh Ataei
,et al.Azadegan-Dehkordi F, Montazer-Zohouri M, Farrokhi E, Shirmardi S, Saedi-Marghmaleki M, et al. Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran. Zahedan J Res Med Sci. 2011;13(5):e93909. doi:
20
Apr
2016
A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene
Habib Onsori
Onsori H. A case report of non-syndromic sensorineural hearing loss with a compound heterozygous mutation (35delG/del120E) in the GJB2 gene. J Inflamm Dis. 2024;20(1):e155955. doi:
30
Apr
2005
A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome
K Kahrizi,
C Nishimura,
A Naghavi,
Y Riazalhosseini,
RJH Smith,
H Najmabadi
Kahrizi K, Nishimura C, Naghavi A, Riazalhosseini Y, Smith R, et al. A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome. Int J Endocrinol Metab. 2005;3(2):. doi:
Cited by
- Scopus by DOI: 0
Last Update: 1 month ago
- Scopus by Title: 0
Last Update: 1 month ago
- Scopus by Title (Ref): 0
Last Update: 1 month ago
- CrossRef: 0
Last Update: 3 days ago
Comments
Number of Comments:0