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Updated: Jun 27, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

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

Forensic Science International. Genetics

|December 17, 2008

Summary

Forensic DNA testing uses mitochondrial genome sequencing when autosomal DNA is insufficient. This study evaluates a new microarray for identifying individuals with identical mitochondrial control region sequences.

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Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA

Simultaneous Mapping and Quantitation of Ribonucleotides in Human Mitochondrial DNA

Published on: November 14, 2017

Area of Science:

Forensic science
Genetics
Molecular biology

Background:

Mitochondrial DNA (mtDNA) sequencing is crucial in forensic science for cases with limited DNA.
mtDNA analysis is vital when autosomal short tandem repeat (STR) testing fails.
Coding region polymorphisms in mtDNA can help distinguish individuals with identical HV1 and HV2 sequences.

Purpose of the Study:

To assess the utility of the Affymetrix GeneChip Mitochondrial Resequencing Array (version 2.0) for forensic DNA analysis.
To explore advanced methods for interrogating mitochondrial DNA coding region polymorphisms.

Main Methods:

Evaluation of the Affymetrix GeneChip Mitochondrial Resequencing Array (version 2.0).
Comparison with existing methods like SNP assays, mass spectrometry, and pyrosequencing.
Interrogation of mitochondrial genome coding region polymorphisms.

Main Results:

The study details the evaluation of a specific microarray for forensic mtDNA analysis.
It compares the microarray's potential against established techniques for coding region analysis.
The findings provide insights into the array's effectiveness in forensic casework.

Conclusions:

The Affymetrix GeneChip Mitochondrial Resequencing Array shows potential for forensic applications.
This technology offers an alternative or complementary approach to existing mtDNA analysis methods.
Further validation may enhance its role in forensic DNA identification.