Genetic Linkage Analysis of DFNB93 Locus in a Group of Families with Autosomal Recessive non-syndromic Hearing Loss (ARNSHL)

Hearing loss is one of the sensory, neurological disorders and happens about 1 in 1000 live births.More than 60% of deafness is hereditary. Genetic type of HL is divided into two groups, syndromic HL (SHL) and NonsyndromicHL (NSHL). Autosomal recessive non syndromic deafness occurs with the highest percentage. This study aimed to determine CABP2 gene mutations in families with ARNSHL in the provinces Chahar Mahal and Bakhtiari and Kohkiluyeh & Boyer Ahmad of Iran. Methods: The descriptive study was performed on 40 large pedigrees with at least two ARNSHL patients. They had healthyparents and most of consanguineous marriage. These cases were negative for GJB2 gene mutation. Then families wereinvestigated for genetic linkage to the DFNB93 locus using STR markers, PCR and polyacrylamide gels. Results: Our result showed that one of the 40 families (2.5%) is linked to the DFNB93 locus. Conclusion: Based on the results of this study, DFNB93 locus has probably little role in deafness of population studied. Further investigations are necessary to determine the role of this locus in deafness in Iranian population more precisely

کلیدواژه ها:

DFNB93 locus ، CABP2 gene ، ARNSHL ، Genetic linkage