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How do the changes in the mitochondrial DNA sequence relate to the numbering system that you use for MatriLine database searches?

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How do the changes in the mitochondrial DNA sequence relate to the numbering system that you use for MatriLine database searches?

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• The vast majority of the changes (mutations) that occur in the DNA sequence we analyse are known as “transitions”; i.e., an “A” changes to a “G”, a “G” changes to an “A”, a “C” to a “T”, and a “T” to a “C”. We record the positions of these changes, relative to the Cambridge Reference Sequence, using a three-digit number that corresponds to the position of the mutation within the sequence, from position 1 (written as 001) to position 400 (written, unsurprisingly, as 400). However, other mutations can sometimes occur. We record these by using the same three-digit numbering system as described above to identify the position of the mutation, but we then add a single digit (the “fourth digit”) to the end of this number to indicate that the mutation is something other than a simple transition.

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