Characterization of the Caucasian Haplogroups Present in the SWGDAM Forensic mtDNA Dataset for 1771 Human Control Region Sequences

• NCJ Number: 198073
• Journal: Journal of Forensic Sciences Volume: 47 Issue: 6 Dated: November 2002 Pages: 1215-1223
• Author(s): Marc W. Allard Ph.D.; Kevin Miller Ph.D.; Mark Wilson M.S.; Keith Monson Ph.D.; Bruce Budowle Ph.D.
• Editor(s): Michael A. Peat Ph.D.
• Date Published: November 2002
• Length: 9 pages
• Publication Format: Article
• Publication Type: Research (Applied/Empirical)
• Language: English
• Country: United States of America

Annotation

This study conducted analyses of the Caucasian haplogroup patterns presented in the Scientific Working Group on DNA Analysis Methods (SWGDAM) forensic dataset used for inferring the relative rarity of mtDNA profiles received from evidence samples.

Abstract

Over the last decade, general patterns have emerged from extensive studies in human mtDNA genetic variation. Of the known European and U.S. Caucasian mitochondrial variation (approximately 99 percent), they can be categorized within 10 defined haplogroups. The frequency and distributions of the Caucasian haplogroups have been the focus of considerable study. A large forensic mtDNA dataset containing 1,771 Caucasians is currently used to infer the relative rarity of mtDNA profiles obtained from evidence samples and for use in identifications of missing persons. The dataset is maintained by the Scientific Working Group on DNA Analysis Methods (SWGDAM) which supports forensic mtDNA analysis. Comparison studies were conducted on both the observation of variable sites within the control region (CR) and the selection of a subset of these sites. A breakdown of the Caucasian portion of the SWGDAM dataset included samples from Austria, France, Spain, and the United States. The 10 major haplogroups in Caucasian populations were described (H,I,J,K,M,T,U,V,W, and X). The analyses demonstrated that the CR sequences are representative of European and U.S. Caucasian populations. The most common haplogroup, H, was observed for approximately 46 percent of the Caucasians. The analysis also found 229 single nucleotide polymorphisms (SNPs) shared by 2 or more Caucasians. The detailed analysis of the large forensic dataset revealed the most important mtDNA CR SNPs useful for discriminating among the haplogroups of Caucasians. The observed SNPs and their rankings provide directions for future expansion of alternative systems to sequencing and for the characterization of human mtDNA.