Rapid mass screening method and counseling for the 1555A-->G mitochondrial mutation

J Hum Genet. 1999;44(5):304-7. doi: 10.1007/s100380050165.

Abstract

The 1555A-->G point mutation is associated with a susceptibility to aminoglycoside antibiotics, and is of particular interest, as it may cause hearing loss even without aminoglycoside exposure. There may be a considerably large high-risk population in Japan, and to avoid possible side effects in this group, a rapid mass screening system and careful counseling are recommended. We are currently using the mutant allele specific amplification (MASA) method to detect the 1555A-->G mitochondrial mutation and we distribute a warning card to subjects found to bear this mutation.

MeSH terms

  • Aminoglycosides
  • Anti-Bacterial Agents / adverse effects
  • Base Sequence
  • DNA, Mitochondrial / genetics*
  • Genetic Counseling*
  • Genetic Testing / methods*
  • Hearing Loss, Sensorineural / chemically induced
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Japan
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length
  • Risk Factors

Substances

  • Aminoglycosides
  • Anti-Bacterial Agents
  • DNA, Mitochondrial