Genetic linkage analysis of DFNB93 locus in a group of families with autosomal recessive non-syndromic hearing loss in Chahar Mahal & Bakhtiari and Kohkiluyeh & Boyer Ahmad provinces of Iran

Hearing loss (HL) is one of the sensory, neurological disorders and is the highest rate of existing disorder at birth. More than 60% of deafness is hereditary. Genetic type of HL is divided into two groups, syndromic HL (SHL) and Non-syndromic HL (NSHL). Autosomal recessive non syndromic deafness (ARNSHL) occurs with the highest percentage (70%). This study aimed to determine genetic linkage of DFNB93 Locus in families with ARNSHL. The descriptive study was performed on 40 large pedigrees with at least two ARNSHL patients. They had healthy parents and most of consanguineous marriage. These cases were negative for GJB2 gene mutation in Chahar Mahal & Bakhtiari and Kohkiluyeh & Boyer Ahmad provinces of Iran. Then families were investigated for genetic linkage to the DFNB93 locus using STR markers, PCR and polyacrylamide gels. Results showed that one of the 40 families (2.5%) was linked to the DFNB93 locus. The value of SLINK (2.67), preliminary two-point LOD (2.05), and multipoint LOD (2.05) for this family was calculated. Based on the results of this study, DFNB93 locus has probably little role in deafness of studied population. Further investigations are necessary to determine the role of this locus in deafness in Iranian population more precisely.