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The use of DNA PCR technology has provided the forensic community with several new tools to assist in the detection of genetic variation in the population. Most recently mitochondrial DNA (mtDNA) sequencing is becoming a powerful tool for identifying human remains. The mitochondrial genome is 16,569 base pairs in length, circular and of known sequence which includes two (2) regions of hypervariability that allows different family lineages to be distinguished from one another. Therefore, the analysis of the mtDNA is possible by examination of the exact sequence. Additionally the mitochondrial genome is present in high copy number which allows for analysis of samples when nuclear DNA is highly degraded or when the amount of nuclear DNA is very limited.

We will present the results of validation studies for mtDNA Sequence Analysis which include optimization of amplification parameters, primer sequence analysis, extraction methods, sample type, quantitation variation and a family study.

In addition we will present the results and conclusions of several cases where mtDNA sequence analysis was utilized to assist in identification of human remains for comparison to a potential maternally related individual. We will also discuss problems and considerations which must be evaluated when dealing with mtDNA sequence analysis data.