Microhaplotypes: the next generation DNA marker

C.E. Credits: P.A.C.E. CE Florida CE
Speaker
  • Associate Professor of Forensic Molecular Biology and Chair of the Department of Forensic Sciences, The George Washington University
    Biography
      Prof. Podini is Associate Professor of Forensic Molecular Biology and Chair of the Department of Forensic Sciences at The George Washington University. He previously served as the Assistant Chief of the Biology Section of the Scientific Department of the Carabinieri - Italian military Armed Force. Later he created and directed the Forensic Section of Genoma, a private molecular biology laboratory in Rome. He consulted with laboratories in Italy, Turkey, Albania, Tunisia, and Algeria to aid in the establishment of Molecular Genetic Sections, and the development of specific forensic capabilities. The research conducted in his lab ranges from developing assays to infer biogeographic ancestry and physical traits, to working on high throughput detection of sperm cells from sexual assault evidence, and from obtaining DNA from fired cartage cases to developing methods to enhance DNA mixture deconvolution with the most recent DNA sequencing technology available.

    Abstract

    Microhaplotypes (microhaps) are biomarkers less than 300 nucleotides long that display multiple allelic combinations. The main advantages of microhaps over conventional short tandem repeats (STRs) include the absence of stutter, same-size alleles within each locus, lower mutation rate, and ancestry informative alleles. These forensically relevant loci can yield a power of discrimination similar to STRs while enhancing human identification (HID), mixture deconvolution and biogeographic ancestry prediction. Sanger sequencing does not allow determining the cis/trans relationship among closely related SNPs while massively parallel sequencing (MPS) allows determining the parental haplotypes at each locus by clonally sequencing of each DNA molecule if they are included in the same amplicon. Currently, STR panels are used for mixture deconvolution and SNP assays are used for ancestry inference. Microhaplotypes can be used for both functions allowing, for example, to infer the ancestry of a minor contributor to a mixture (DNA intelligence). In this presentation we discuss the current status of the research conducted in the GW-FMB lab on this new multi-function DNA marker and its potential impact to the field of in forensic genetics.

    Learning Objectives:

    1. Molecular basis of microhaplotypes

    2. Informativeness and power of discrimination of microhaplotypes

    3. Mixture deconvolution via microhaplotypes


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