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Forensic Application of the Affymetrix Human Mitochondrial Resequencing Array

NCJ Number
Forensic Science International: Genetics Volume: 1 Dated: 2007 Pages: 196-198
Date Published
3 pages

This study assessed the potential of the Affumetrix GeneChip Mitochondrial Resequencing Array (version 2.0) for forensic applications.


The increasing availability of commercial DNA array platforms is an attractive option for forensic analyses. One such platform is the Affymetrix GeneChip Mitochondrial Resequencing Array version 2.0. The GeneChip platform allows for sequencing of the entire mitochondrial genome by hybridization. The mitochondrial genome is amplified in three separate reactions, fragmented, and hybridized onto the array. Full genome sequencing results can typically be obtained in approximately 2 days. In the current assessment, a challenging sample was selected from the NIST U.S. population samples: African-American. This sample contained 63 differences from the rCRS as previously determined from dideoxy fluorescent sequencing experiments. The amount of DNA needed for the array is comparable to that required by fluorescent methods for sequencing the entire mitochondrial genome; however, the array does not provide full sequence coverage. Because of this relatively high sample requirement, the array may have restrictions for running a limited quantity of casework sample. Still, the platform should be useful in running family reference samples for the elucidation of SNPs in the coding region that will help resolve individuals. Comparisons between the GeneChip and traditional sequencing indicate the array platform had more difficulty calling instances of point heteroplasmy, insertions, deletions, poly C regions, and some closely spaced polymorphisms. Materials and methods for the GeneChip experiments are described in detail. 1 table and 6 references

Date Published: January 1, 2007