Introduction & Objective: Hearing loss is a common disease
affecting millions of people worldwide. Hearing loss can be caused
due to genetic or environmental factors or even both. The genetic
of hearing defect is highly heterogeneous and more than 100
genes are predicted to cause this disorder in humans. A newly
identified gene (DFNB59) has been shown to cause deafness in
some populations. Here we report mutation analysis for DFNB59
gene in 88 genetic non-syndromic hearing loss subjects.
Materials & Methods: In this descriptive-lab based study which
was conducted at the Cellular and Molecular Research Center of
Shahrekord University of Medical Sciences, DNA was extracted
from the peripheral blood samples using standard phenol
chloroform procedure. Mutation analysis for DFNB59 gene was
performed using PCR-SSCP/HA protocol. The suspected DFNB59
which was detected as shifted bands on PAGE were then
confirmed by direct sequencing strategy.
Results: Two DFNB59 polymorphisms including c.793C>G and
c.793C>T were detected in 8 and 1 deaf subjects respectively.
Conclusion: We conclude that there is no association between
DFNB59 mutations and deafness in the studied patients in the
region