International Journal of Legal Medicine

, Volume 118, Issue 1, pp 47–54

Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region

  • Anita Brandstätter
  • Harald Niederstätter
  • Walther Parson
Original Article

DOI: 10.1007/s00414-003-0418-z

Cite this article as:
Brandstätter, A., Niederstätter, H. & Parson, W. Int J Legal Med (2004) 118: 47. doi:10.1007/s00414-003-0418-z

Abstract

The entire mitochondrial DNA control region (~1122 bp) of 270 blood samples (135 mother-child pairs) was determined by direct sequencing. Overall, 135 ‘generational events’ were screened and within these, 20 mother-offspring pairs demonstrated more than 1 mtDNA haplotype. In 13 families, differences in the haplotypes between mother and offspring were detected in the form of heteroplasmic substitutions. Intergenerational comparisons led to the identification of three heteroplasmic point mutations and eight heteroplasmic length mutations affecting the children only. In two cases, a point heteroplasmy of the maternal sequence was resolved to homoplasmy in the corresponding sequence of the child. These discordant maternal-offspring haplotypes suggest that the shift in the mtDNA haplotype was the result of segregation of a limited maternal subpopulation of mtDNA. As technical implement, quality values assigned to basecalls were tested for their application in automated point heteroplasmy detection.

Keywords

Point heteroplasmyLength heteroplasmyGenetic bottleneckSequence quality valuesSequence analysisForensic science

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Anita Brandstätter
    • 1
  • Harald Niederstätter
    • 1
  • Walther Parson
    • 1
  1. 1.Institute of Legal MedicineUniversity of Innsbruck InnsbruckAustria