Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family.

Authors: Cui Y, He DJ Abstract Mutations in the mitochondrial genome have been identified to be associated with hearing loss. The aim of the present study was to investigate the role of mitochondrial DNA (mtDNA) variants in a Chinese family with hearing loss. Polymerase chain reaction (PCR)‑Sanger sequencing was used to screen the mtDNA variants and nuclear genes [gap junction protein β2 (GJB2) and transfer (t)RNA 5‑methylaminomethyle‑2‑thiouridylate methyltransferase (TRMU)]; in addition, the mtDNA copy number was determined by quantitative PCR. The present study characterized the molecular features of a Chinese family with maternally‑inherited hearing loss and identified mtDNA A1555G and tRNAIle A4317G mutations. The A4317G mutation was localized at the TΨC arm of tRN...

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