Detection of mutation in mitochondrial 12S and 16S ribosomal RNA genes in aminoglycoside-induced deafness / 解放军医学杂志

ABSTRACT

Objective To identify the possible mutations other than A1555G in mitochondrial 12S and 16S rRNA genes that responsible for aminoglycoside-induced deafness, and to provide the basis for genetic diagnosis for this disease. Methods A total of twenty-seven blood samples were obtained from five families with aminoglycoside-induced deafness for screening the A1555G mutation and other possible mutations by PCR- Alw26 I digestion and sequence analysis. Results All samples examined in four families (A, C, D and E) carried the same homoplasmic A1555G mutation, but no A1555G mutation was found in family B. Sequencing of the DNA samples from this family displayed a rare insertion of "AA" at nucleotide 2227 in 16S rRNA gene. Conclusions Our findings suggested that the 1555 G mutation was not the only genetic defect associated with aminoglycoside-induced deafness since we did not find the A1555G mutation in one family, in which the typical maternal inheritance pattern of the aminoglycoside-induced deafness was seen. It is not enough to identify prospectively patients who are likely to be hypersensitive to aminoglycoside ototoxicity by screening A1555G mutation only. Other possible mutations in mitochondrial DNA that associated with aminoglycoside -induced deafness should be tested also.