The application of mtDNA SNPs to a forensic case

• Published in: Forensic science international. Genetics supplement series Vol. 1; no. 1; pp. 295 - 297
• Main Authors: Sturk, Kimberly A., Coble, Michael D., Barritt, Suzanne M., Parsons, Thomas J., Just, Rebecca S.
• Format: Journal Article
• Language: English
• Published: Elsevier Ireland Ltd 01.08.2008
• Subjects: Allele specific primer extension; Mitochondrial DNA; Single nucleotide polymorphism; SNaPshot; Mitochondrial DNA; Single nucleotide polymorphism; SNaPshot; Allele specific primer extension
• ISSN: 1875-1768; 1875-175X
• DOI: 10.1016/j.fsigss.2007.10.148

A multiplex allele specific primer extension (ASPE) assay was optimized to type 11 single nucleotide polymorphisms (SNPs) in the control and coding regions of the mitochondrial genome. The SNPs provide additional discrimination when one of the most common W. European Caucasian hypervariable region types (HV types) is encountered. The SNP assay was applied in a nearly 40-year-old missing persons case involving highly degraded human remains in which four potential reference families matched the case sample across hypervariable regions 1 and 2 (HV1/HV2). The SNP assay identified two coding region positions (5250 and 12438) at which the case sample differed from one reference family. The exclusion eliminated the need for any further testing for comparison to those reference samples, and narrowed the focus to the remaining families.