Evaluating length heteroplasmy in the human mitochondrial DNA control region

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 cons...

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Bibliographic Details
Published in:International journal of legal medicine 2010-03, Vol.124 (2), p.133-142
Main Authors: Forster, Lucy, Forster, Peter, Gurney, Susan M. R., Spencer, Matthew, Huang, Christopher, Röhl, Arne, Brinkmann, Bernd
Format: Article
Language:English
Subjects:
Alleles
Background Radiation
Child
DNA, Mitochondrial - genetics
Female
Forensic Medicine
Humans
Locus Control Region - genetics
Medical Law
Medicine
Medicine & Public Health
Mutation
Original Article
Pedigree
Polymorphism, Genetic
Sequence Analysis, DNA
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Summary: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.
ISSN:0937-9827
1437-1596
DOI:10.1007/s00414-009-0385-0