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Principles of Forensic DNA for Officers of the Court

Sequence (Site) Heteroplasmy (cont.)

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Sequence heteroplasmy, the presence of mtDNA molecules that differ by a single DNA base, is observed in about 10% of hairs and in about 1% of blood samples. The higher frequency in hairs is due to the development of a hair from only a few stem cells. Certain nucleotide sites are well-recognized mutational hot spots, that is, DNA locations where sequence heteroplasmy is likely to be observed.

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