Forensic analysis of the mitochondrial coding region and association to disease
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Coble et al.  and Vallone et al.  have proposed that forensic analyses of the coding region in the mitochondrial DNA (mtDNA) should be restricted to synonymous substitutions only to avoid detection of changes with phenotypic expression. They suggest that sequencing strategies for forensic analyses of the coding region of the mtDNA genome should be avoided due to potential risk of obtaining personal disease state information and that only SNP-based systems should be employed. We disagree with this proposition as applying such a strict criterion is not well thought-out and also would severely hamper the use of mtDNA in forensic testing. There are a number of reasons not to limit the analyses in the way suggested by these authors.
First, most of the disorders associated with mtDNA mutations are uncommon or rare and have variable penetrance. At the mitomap website (http://www.mitomap.org/), over 80 mtDNA substitutions have been reported as associated with disease. Of these, 17 are...
KeywordsForensic Analysis Paternity Testing Synonymous Change Nuclear Gene Mutation Code Region Polymorphism
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