Objectives: The GJB2 and MTRNR1 1555A>G mutations are the prevalent causes of hearing loss worldwide. However, the mutation profiles of the two genes are dependent on the ethnic or geographic origins. Therefore, this study was to characterize the forms and frequencies of the two genes in 813 students with hearing loss in Hubei province, Central China.
Methods: Blood samples from 813 students were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes. The target fragments were amplified by polymerase chain reaction (PCR). Sequencing (or enzyme digestion) was applied to identify sequence variations.
Results: Ten different mutations were identified in GJB2 in 146 of the 813 (17.96%) patients and 11.81% (96/813) patients had homoplasmic mtDNA 1555A>G mutation.
Conclusions: This study demonstrated the high prevalence of GJB2 and mtDNA 1555A>G mutations in Central Chinese population. Therefore, it will be effective to perform GJB2 and mtDNA 1555A>G mutation analysis for genetic screening for hearing loss in this population.
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