Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population

作者：Kabahuma Rosemary I; Ouyang Xiaomei; Du Li Lin; Yan Denise; Hutchin Tim; Ramsay Michele^*; Penn Claire; Liu Xue Zhong

来源：International Journal of Pediatric Otorhinolaryngology, 2011, 75(5): 611-617.

DOI：10.1016/j.ijporl.2011.01.029

• GJB2
• GJB6-D13S1830
• Molecular diagnosis
• mtDNA mutations
• Non-syndromic hearing loss
• South African population

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.

• 出版日期2011-5