=مجلة دانشگاه علوم پزشكي بابل، سال سوم، شمارة 3 (پي‏درپي11)، صفحه الي ، تابستان 1380

Abstract

ABSTRACT BACKGROUND AND OBJECTIVE: Congenital hearing loss is the most common sensorineural defect in human. The most common genetic mutations in this disease are GJB2 mutations which are followed by SLC26A4 mutations. Following a report for the first time in the world insist on CABP2 gene interference in hearing loss production, the present study was launched to analyze this mutation in Iranian patients with hereditary hearing loss. METHODS: This is a cross sectional study. Among samples with autosomal recessive familial hearing loss pattern, regarding pedigree and audiometric data 253 patients with moderate to profound hearing loss were selected and studied. The mutation c. 637+1G>T was investigated using PCR-RFLP method