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Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees
KTH, School of Biotechnology (BIO), Gene Technology.
KTH, School of Biotechnology (BIO), Gene Technology.ORCID iD: 0000-0001-8993-048X
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2011 (English)In: International journal of legal medicine (Print), ISSN 0937-9827, E-ISSN 1427-1596, Vol. 125, no 4, 527-535 p.Article in journal (Refereed) Published
Abstract [en]

Heteroplasmy, the presence of two or more variants in an organism, may render mitochondrial DNA (mtDNA)-based individual identification challenging in forensic analysis. However, the variation of heteroplasmic proportions and the segregation of heteroplasmic variants through generations and within families have not been systematically described at a large scale in animals such as the domestic dog. Therefore, we performed the largest study to date in domestic dogs and screened a 582-bp-long fragment of the mtDNA control region in 180 individuals in 58 pedigrees for signs of heteroplasmy. We identified three pedigrees (5.17%) with heteroplasmic point mutations. To follow the segregation of the point mutations, we then analyzed 131 samples from these three independent pedigrees and found significant differences in heteroplasmy between generations and among siblings. Frequently (10% of cases), the proportion of one base changed from 0-10% to 80-90% (as judged from Sanger electropherograms) between generations and varied to a similar extent among siblings. We included also a literature review of heteroplasmic and potential mutational hot spot positions in the studied region which showed that all heteroplasmic positions appear to be mutational hot spots. Thus, although heteroplasmy may be used to increase the significance of a match in forensic case work, it may also cause erroneous exclusion of related individuals because of sharp switches from one state to the other within a single generation or among siblings especially in the presented mutational hot spots.

Place, publisher, year, edition, pages
2011. Vol. 125, no 4, 527-535 p.
Keyword [en]
Heteroplasmy, Mutational hot spot, mtDNA, Control region, Domestic dog, Forensics
National Category
Industrial Biotechnology
URN: urn:nbn:se:kth:diva-35617DOI: 10.1007/s00414-010-0524-7ISI: 000291663400007ScopusID: 2-s2.0-79960265630OAI: diva2:429605
Swedish Research CouncilKnut and Alice Wallenberg FoundationScience for Life Laboratory - a national resource center for high-throughput molecular bioscience
QC 20110705Available from: 2011-07-05 Created: 2011-07-04 Last updated: 2011-12-07Bibliographically approved

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Klütsch, CornelyaUhlén, MathiasSavolainen, Peter
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