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The frequency of mutations in GJB2 gene in deaf subjects referring to the welfare center of Ilam: lack of 35delG mutation
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H Mahmoodi   , S Mohamadiari , M Sohrab jaidari , Sh Kordi , S Bakhtiari , N Mahdieh * 1 |
| 1- , n mahdieh@yahoo.com |
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Abstract: (7598 Views) |
| Abstract
Introduction: Hearing loss is the most common sensory deficit affecting 1 in 1000 newborns. The aim of this study was to investigate GJB2 mutations among deaf people referring to genetic counseling center of Ilam Welfare and Rehabilitation Organization.
Materials and Methods: Blood samples were taken from the referred deaf individuals. After DNA extraction, the common GJB2 mutation, 35delG, was checked and then the gene was sequenced.
Results: 35delG mutation was found in none of samples. GJB2 mutations were determined in one of 25 samples (2 out of 100 chromosomes or 4 % of alleles).
Discussion: These results show that the distribution of the 35delG mutation and other GJB2 mutations in Ilam is different from other parts of Iran and it may similar to the neighbor country. In the other hand, the results may be used in screening programs. |
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| Keywords: Hearing loss, GJB2, Ilam population, 35delG mutation |
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Full-Text [PDF 399 kb]
(2437 Downloads)
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Type of Study: Research |
Subject:
Molecular Genetics
Received: 2014/01/29 | Accepted: 2014/05/12 | Published: 2014/07/13
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