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Updated: Jun 27, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Forensic application of the Affymetrix human mitochondrial resequencing array
P M Vallone1, J P Jakupciak, M D Coble
1National Institute of Standards and Technology (NIST), Biochemical Sciences Division, 100 Bureau Dr., M/S 8311, Gaithersburg, MD 20899-8311, United States. peter.vallone@nist.gov
Abstract:
In the field of forensic DNA testing, sequencing regions of the mitochondrial genome is performed when insufficient genomic DNA is present for traditional autosomal short tandem repeat (STR) testing. Sequencing coding region polymorphisms in the mitochondrial genome can be useful for resolving individuals who have the identical HV1 and HV2 control region sequence. Various methods and strategies have been established to interrogate coding region polymorphisms. These range from SNP assays probing sites most likely to differentiate individuals based on their HV1/HV2 sequence to the use of mass spectrometry to pyrosequencing. Here we evaluate the potential of the Affymetrix GeneChip Mitochondrial Resequencing Array (version 2.0) for forensic applications.
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