Analyzing Pattern of Mutation in mtDNA Using Markov Chain

Lira Adiyani, Sutawanir Darwis, Achmad Saifuddin Noer


Mutation in mtDNA becomes an interesting topic that needed to discuss. If someone has a mutation
in his mtDNA, then it might be affect his health. Those effects could be some diseases or another
variation that gives different characteristics. In study of mutation, there are two such things become
the main problems: (1) does mutation occur dependently? and (2) what is the pattern? From the
research (by 9 degrees of freedom χ2), DNA sequence shows a positional dependence. In addition, we
can also see a positional dependence in mtDNA sequence clearly (position i-1, i, i+1 are dependent
with i define as mutation) by sign test, which means, it is possibly that there is a pattern of mutation.
This paper uses Markov chain to quantify the pattern and as results all bases will mutate if position
i+1 is C or cytosine (±40%). Moreover, A, C, and G will mutate (become T) if position i-1 is A or
adenine (54.5%).



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