International Journal of Legal Medicine

, Volume 124, Issue 2, pp 133–142

Evaluating length heteroplasmy in the human mitochondrial DNA control region

  • Lucy Forster
  • Peter Forster
  • Susan M. R. Gurney
  • Matthew Spencer
  • Christopher Huang
  • Arne Röhl
  • Bernd Brinkmann
Original Article

DOI: 10.1007/s00414-009-0385-0

Cite this article as:
Forster, L., Forster, P., Gurney, S.M.R. et al. Int J Legal Med (2010) 124: 133. doi:10.1007/s00414-009-0385-0

Abstract

We present allelic data for three known and one new C-tract in the human mitochondrial DNA (mtDNA) control region, and we measure intergenerational mutation rates at such C-tracts. In detail, in a sample of 1,172 mtDNA sequences, we demonstrate the existence of an instability threshold of eight consecutive cytosines, at and above which the phenomenon of length heteroplasmy arises. To determine mutation rates, we draw on mtDNA sequences in up to four generations of 248 pedigrees for families living in high or low-radiation environmental conditions. The high-radiation sample gives the most conservative (fastest) mutation rate likely to be encountered in any forensic context. We find that the C-tract mutation rate is up to 6% per generation, and we observe an excess of cytosine gains over losses. Case studies and guidelines for evaluating mtDNA heteroplasmy are provided.

Keywords

C-stretch D-loop Displacement loop Indel Radioactivity Mutagenesis Kerala Thorium Monazite 

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Lucy Forster
    • 1
  • Peter Forster
    • 1
    • 2
    • 3
  • Susan M. R. Gurney
    • 4
  • Matthew Spencer
    • 5
  • Christopher Huang
    • 6
  • Arne Röhl
    • 1
    • 3
  • Bernd Brinkmann
    • 7
  1. 1.Institute of Legal MedicineUniversity of MünsterMünsterGermany
  2. 2.Cambridge Society for the Application of ResearchChurchill CollegeCambridgeUK
  3. 3.Genetic Ancestor Ltd.CambridgeUK
  4. 4.Institute of Continuing EducationUniversity of CambridgeCambridgeUK
  5. 5.School of Environmental SciencesUniversity of LiverpoolLiverpoolUK
  6. 6.Physiological LaboratoryUniversity of CambridgeCambridgeUK
  7. 7.Institute of Forensic GeneticsMünsterGermany

Personalised recommendations