Abstract
The purpose of this study was to determine the prevalence of mutations in the
GJB2 gene, the
GJB6-D13S1830 deletion and the four common mitochondrial mutations (A1555G, A3243G, A7511C and A7445G) in a South African population.
Using single-strand conformation polymorphism and direct sequencing for screening
GJB2 mutation; Multiplex PCR Amplification for
GJB6-D13S1830 deletion and Restriction Fragment-Length Polymorphism (PCR
-RFLP) analysis for the four common
mtDNA mutations. We screened 182 hearing impaired students to determine the frequency of these mutations in the population.
None of the reported disease causing mutations in
GJB2 nor any novel pathogenic mutations in the coding region were detected, in contrast to the findings among Caucasians. The
GJB6-D13S1830 deletion and the mitochondrial mutations were not observed in this group.
These results suggest that
GJB2 may not be a significant deafness gene among sub-Saharan Africans, pointing to other unidentified genes as responsible for nonsyndromic hearing loss in these populations.
