title: Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences. Scientific Working Group on DNA Analysis Methods.
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.
authors.affiliation: Department of Biological Sciences, George Washington University, Washington DC, USA.
authors.forename: Marc W
authors.initials: MW
authors.lastname: Allard
authors.forename: Kevin
authors.initials: K
authors.lastname: Miller
authors.forename: Mark
authors.initials: M
authors.lastname: Wilson
authors.forename: Keith
authors.initials: K
authors.lastname: Monson
authors.forename: Bruce
authors.initials: B
authors.lastname: Budowle
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005554:Forensic Medicine / Q000379:methods; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial