Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences

Marc W. Allard, Kevin Miller, Mark Wilson, Keith Monson, Bruce Budowle

Research output: Contribution to journalArticlepeer-review

55 Scopus citations

Abstract

Currently, the Scientific Working Group on DNA Analysis Methods (SWGDAM) mtDNA dataset is used to infer the relative rarity of mtDNA profiles (i.e., haplotypes) obtained from evidence samples and for identification of missing persons. The Caucasian haplogroup patterns in this forensic dataset have been characterized using phylogenetic methods. The assessment reveals that the dataset is relevant and representative of U.S. and European Caucasians. The comparisons carried out were both the observation of variable sites within the control region (CR) and the selection of a subset of these sites, which partition the variation within human mtDNA control region sequences into clusters (i.e., haplogroups). The aligned sequence matrix was analyzed to determine both single nucleotide polymorphisms (SNPs) in a phylogenetic context, as well as to check and standardize haplogroup designations with a focus on determining the characters that define these groups. To evaluate the dataset for forensic utility, the haplogroup identifications and frequencies were compared with those reported from other published studies.

Original languageEnglish
Pages (from-to)1215-1223
Number of pages9
JournalJournal of Forensic Sciences
Volume47
Issue number6
StatePublished - 1 Nov 2002

Keywords

  • Control region
  • Forensic science
  • Haplogroup designation
  • Human variation
  • Polymorphism
  • SNPs
  • SWGDAM forensic mtDNA dataset
  • Validation

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