Deafness

 

 

Congenital deafness occurs in about 1 in 1,000 live births, of which 50% has a hereditary cause. Approximately 80% of this he-reditary deafness is nonsyndromic and is inherited in an autosomal recessive fashion. At least 20 genes that cause nonsyndromic recessive deafness (NSRD) have been localized and assigned locus designations (DFNB1 through DFNB20). Mutations in the gene GJB2, encoding the gap-junction protein connexin-26, were shown to cause DFNB1, and in this gene a single mutation, 35delG, accounts for the majority of mutant alleles in different ethnic groups. The 35delG mutation is a frame-shift mutation, leading to premature chain.

We screen GJB2 gene by PCR-RFLP and sequencing method.

 

Contact us: Tel:(+98 21)88003811-12