Noninvasive Test for Mitochondrial DNA A1555G Mutation Associated with Deafness

The homoplasmic mitochondrial DNA (mtDNA) A1555G mutation in the highly conserved decoding site of 12S rRNA has been associated with aminoglycoside-induced and nonsyndromic hearing loss in many families worldwide. The A1555G mutation detection is an important part of hearing screening. At present, blood samples are the most common source of genomic DNA. However, drawing blood is invasive for individuals.

The whole genomic DNA of samples carrying mitochondrial DNA A1555G mutation (LX010 and LX044) with aminoglycoside-induced and nonsyndromic deafness as well as wild type were used as templates. The PCR products were analyzed by DNA sequencing, PCR-RFLP, dot blot, and southern blot.

The DNA sequencing, PCR-RFLP, dot blot, and southern blot demonstrate that buccal cell DNA can be used for the screening and identification of the A1555G mutation as well as peripheral blood DNA.

This study established a convenient, noninvasive and suitable for clinical determination of mtDNA A1555G mutation associated with deafness.