Study of Deafness Associated with DFNB59 Gene (pejvakin) Mutation in Fars Province

Abstract

Background and Objectives: Hearing loss is the most frequent sensory disorder affecting 1 in 500 neonates with more than 50% of inherited cases. This trait is a very heterogeneous disorder and happens due to genetic or environmental causes or both. More than 46 genes may be involved in non-syndromic hearing loss. Recently, DFNB59 gene has been shown to cause deafness in some Iranian populations. The aim of this study was to determine the role of DFNB59 gene mutations causing deafness in a group of 130 deaf pupils in Fars province. Methods: This descriptive-laboratory based study investigated the frequency of DFNB59 gene mutations using PCR-SSCP/HA strategy. Results: Two different DFNB59 polymorphism including 874G>A and 793C>G were found in 1 and 9 of 130 patients studied respectively. However, no DFNB59 mutation was identified. Conclusion: The results of this study shows that the association of DFNB59 mutations with deafness in Fars province is very low.

Keywords

• dfnb59
• pcr-sscp reaction
• hetroduplex reaction
• hearing loss