International Journal of Legal Medicine

, Volume 121, Issue 3, pp 207–213 | Cite as

Mitochondrial D-loop (CA)n repeat length heteroplasmy: frequency in a German population sample and inheritance studies in two pedigrees

  • Reinhard Szibor
  • Ines Plate
  • Marielle Heinrich
  • Mathias Michael
  • Rüdiger Schöning
  • Holger Wittig
  • Sabine Lutz-Bonengel
Case Report


Sequence analysis of the human mitochondrial genome (mtDNA) has proven to be a valuable tool in forensic identity testing and the analysis of crime scene stains. In contrast to the very expensive sequencing technique, typing of different length variants can greatly facilitate screening of a large number of traces for their relevance during casework. Within the mitochondrial control region, a dinucleotide (CA)n repeat locus is present. To assess the discrimination power of this marker, we have determined (CA)n allele distribution and the frequency of heteroplasmy in a population sample of 2,458 Germans. The inclination to develop heteroplasmic mixtures (CA)n/(CA)n−1 was positively correlated with the number of CA repeats in the mtDNA. In addition, we have studied the inheritance patterns of (CA)n repeat sequence heteroplasmy in two pedigrees. In one pedigree, we also found a length heteroplasmy in the homopolymeric C-tract (nt 303–309). Our data show stable inheritance of heteroplasmy within the homopolymeric C-stretch, but rather unstable inheritance regarding the (CA)n repeat locus.


mtDNA Length heteroplasmy (CA) dinucleotide repeat Homopolymeric tract Inheritance studies 


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Reinhard Szibor
    • 1
  • Ines Plate
    • 1
  • Marielle Heinrich
    • 2
  • Mathias Michael
    • 3
  • Rüdiger Schöning
    • 1
  • Holger Wittig
    • 1
  • Sabine Lutz-Bonengel
    • 2
  1. 1.Institut für RechtsmedizinOtto-von-Guericke-Universität MagdeburgMagdeburgGermany
  2. 2.Institut für RechtsmedizinKlinikum der Albert-Ludwigs-Universität FreiburgFreiburgGermany
  3. 3.Institut für RechtsmedizinFriedrich-Schiller-Universität JenaJenaGermany

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