Sequencing mtDNA for Human Identification

The overall goal of this project is to assess the potential and limitations of the application of genomic sequencing to testing hypotheses of human identity and relationship. The model system for this project will be direct sequencing of the highly polymorphic control region of the maternally inherited, haploid mitochondrial DNA (mtDNA) after amplification of target sequences by the polymerase chain reaction. Specifically, the mtDNA control region will be evaluated to determine the most informative portions of the sequence in American populations and the degree to which this variability permits every maternal lineage to be uniquely identified. Standardized techniques for routine sequencing will be developed to circumvent artifacts due to replication errors, contamination, and degradation of DNA. The possibility of obtaining mtDNA sequences from various human tissues, and of determining the true mtDNA sequence regardless of the tissue source of the DNA, will also be assessed. The results of this project should be of use in defining the technical and statistical limits of the genetic approach to human identification. The information and procedures developed could also be incorporated into public policy for the appropriate application of DNA sequencing to human identification.