Abstract
Objective: 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. Methods: 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. Results: 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. Conclusion: 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.
Original language | English (US) |
---|---|
Pages (from-to) | 611-617 |
Number of pages | 7 |
Journal | International Journal of Pediatric Otorhinolaryngology |
Volume | 75 |
Issue number | 5 |
DOIs | |
State | Published - May 2011 |
Keywords
- GJB2
- GJB6-D13S1830
- Molecular diagnosis
- MtDNA mutations
- Non-syndromic hearing loss
- South African population
ASJC Scopus subject areas
- Otorhinolaryngology
- Pediatrics, Perinatology, and Child Health