A new genetic polymorphism in the 16S ribosomal RNA gene of human mitochondrial DNA

Ann Hum Genet. 1989 Oct;53(4):303-10. doi: 10.1111/j.1469-1809.1989.tb01799.x.


Sequence analysis of the 3' end of the 16S rRNA gene of mitochondrial DNA (mtDNA) revealed a single base change G----A, at position 3010. This mutation was first identified in a patient who had recovered from chloramphenicol-induced aplastic anaemia (CAP-induced AA). A link between this mutation and CAP-induced AA was ruled out by investigating three other similar patients, none of whom had the mutation. This mutation lies within or near the chloramphenicol binding site in a part of the 16S rRNA gene which shows high evolutionary conservation and where polymorphisms have not been previously reported. Hybridization tests with appropriate oligonucleotide probes in 114 individuals reveal that this mutation has a polymorphic frequency of about 14% in Europeans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Aplastic / chemically induced
  • Anemia, Aplastic / genetics
  • Base Sequence
  • Chloramphenicol / adverse effects
  • DNA, Mitochondrial / genetics*
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Molecular Sequence Data
  • Mutation
  • Nucleic Acid Conformation
  • Polymorphism, Genetic
  • RNA, Ribosomal / genetics*
  • RNA, Ribosomal, 16S / genetics*


  • DNA, Mitochondrial
  • RNA, Ribosomal
  • RNA, Ribosomal, 16S
  • Chloramphenicol