Genetic linkage analysis of DFNB24 locus in a group of families with autosomal recessive non-syndromic hearing loss in Khouzestan province of Iran

Hearing loss (HL) is the most common sensorineural disorder affecting 1 in 1000 newborns. About 70% of genetic HL is classified as nonsyndromic deafness. Over 100 non-syndromic loci have been identified in autosomal recessive nonsyndromic hearing loss (ARNSHL). The aim of this study is identifying genetic cause of deafness by investigating genetic linkage analysis for DFNB24 locus (RDX gene) in ARNSHL families.
In this descriptive-experimental study, 400 samples from 25 Iranian consanguinity families with 3 or more patients, segregating as an ARNSHL, were selected from Khuzestan. Totally, 23 families were negative for GJB2 mutations (DFNB1) and were included. Six STR (Short Tandem Repeat) markers were selected, PCR amplification was done, and genotyping was performed by electrophoresis PCR product on polyacrylamide gel (PAGE). Several software tools such as Easy Linkage, SimWalk and HaploPainter were used for linkage analysis.
Following the study of genetic linkage of DFNB24 in hearing loss population of Kuzestan province, our findings showed no families to be linked to the DFNB24 locus and deafness.
Results of the present study showed that RDX mutations may have little role in the etiology of deafness in this province.