Human Genetics

, Volume 88, Issue 2, pp 139–145

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

  • S. Marzuki
  • A. S. Noer
  • P. Lertrit
  • D. Thyagarajan
  • R. Kapsa
  • P. Utthanaphol
  • E. Byrne
Original Investigations

DOI: 10.1007/BF00206061

Cite this article as:
Marzuki, S., Noer, A.S., Lertrit, P. et al. Hum Genet (1991) 88: 139. doi:10.1007/BF00206061

Summary

A good standard reference for the highly polymorphic human mitochondrial DNA (mtDNA) sequence is essential for studies of normal and disease-related nucleotide variants in the mitochondrial genome. A consensus sequence for the human mitochondrial genome has been derived from thirteen unrelated mtDNA sequences. We report 128 nucleotide variants of the human mtDNA sequence, and 62 amino acid variants of the human mitochondrial translation products, observed in the coding region of these mtDNA sequences.

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • S. Marzuki
    • 1
  • A. S. Noer
    • 1
  • P. Lertrit
    • 1
  • D. Thyagarajan
    • 1
    • 2
  • R. Kapsa
    • 1
  • P. Utthanaphol
    • 1
  • E. Byrne
    • 2
  1. 1.Department of Biochemistry and the Centre for Molecular Biology and MedicineMonash UniversityClaytonAustralia
  2. 2.Department of NeurologySt. Vincent's HospitalFitzroyAustralia