Objective To investigate the prevalence of mitochondrial DNA (mtDNA) 1555A > G and 1494C > T mutations in patients with profound nonsyndromic hearing loss.
Methods We enrolled 208 patients with profound nonsyndromic sensorineural hearing loss in this study, including 108 patients from the Special Education School of Jiamusi of Heilongjiang Province and 100 outpatients from Peking Union Medical College Hospital. DNA microarray and restriction enzyme assays were used to detect the mtDNA mutations of 1555A > G and 1494C > T, and accuracy of the detection results was tested by DNA sequence analysis.
Results The detection rates of mtDNA 1555A > G and mtDNA 1494C > T mutations were 4.81% (10/208) and 0 (0/208), respectively.
Conclusion MtDNA 1555A > G mutation has a high detection rate among patients with profound nonsyndromic hearing loss, whereas mtDNA 1494C > T mutation is rare in Chinese populations with hearing loss.