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

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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.

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Acknowledgements

The authors would like to thank Cordula Eichmann and Anna König (Institute of Legal Medicine, University of Innsbruck, Austria) for valuable discussion.

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Authors and Affiliations

  1. Institute of Legal Medicine, University of Innsbruck, Müllerstrasse 44, 6020, Innsbruck, Austria

    Anita Brandstätter, Harald Niederstätter & Walther Parson

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  1. Anita Brandstätter
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  2. Harald Niederstätter
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  3. Walther Parson
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Correspondence to Walther Parson.

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Brandstätter, A., Niederstätter, H. & Parson, W. Monitoring the inheritance of heteroplasmy by computer-assisted detection of mixed basecalls in the entire human mitochondrial DNA control region. Int J Legal Med 118, 47–54 (2004). https://doi.org/10.1007/s00414-003-0418-z

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  • DOI: https://doi.org/10.1007/s00414-003-0418-z

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