ISSN: 0022-1198
CODEN: JFSCA
Published Online: 1 November 2002
Page Count: 9

Characterization of the Caucasian Haplogroups Present in the SWGDAM Forensic mtDNA Dataset for 1771 Human Control Region Sequences
Budowle, B
Federal Bureau of Investigation,

Miller, K
Federal Bureau of Investigation, DNA Analysis Unit,

Monson, K
Federal Bureau of Investigation Academy, Counterterrorism and Forensic Science Research Unit, VA

Allard, MW
George Washington University,

Wilson, M
Federal Bureau of Investigation Academy, Counterterrorism and Forensic Science Research Unit, VA

(Received 10 May 2002; accepted 3 May 2002)

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.

Keywords:
forensic science, SWGDAM forensic mtDNA dataset, haplogroup designation, SNPs, validation, polymorphism, human variation, control region

Paper ID: JFS15553J
DOI: 10.1520/JFS15553J
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