title: Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale.
abstract: The impact of phylogeographic information on mtDNA forensics has been limited to the quality control of published sequences and databases. In this work we use the information already available on Eurasian mtDNA phylogeography to guide the choice of coding-region SNPs for haplogroup H. This sub-typing is particularly important in forensics since, even when sequencing both HVRI and HVRII, the discriminating power is low in some Eurasian populations. We show that a small set (eight) of coding-region SNPs resolves a substantial proportion of the identical haplotypes, as defined by control-region variation alone. Moreover, this SNP set, while substantially increasing the discriminating efficiency in most Eurasian populations by roughly equal amounts, discloses population-specific profiles.
authors.affiliation: Instituto de Patologia e Imunologia Molecular da Universidade do Porto, R. Dr. Roberto Frias s/n, 4200-465 Porto, Portugal. lpereira@ipatimup.pt
authors.forename: Luísa
authors.initials: L
authors.lastname: Pereira
authors.forename: Martin
authors.initials: M
authors.lastname: Richards
authors.forename: Ana
authors.initials: A
authors.lastname: Goios
authors.forename: Antonio
authors.initials: A
authors.lastname: Alonso
authors.forename: Cristina
authors.initials: C
authors.lastname: Albarrán
authors.forename: Oscar
authors.initials: O
authors.lastname: Garcia
authors.forename: Doron M
authors.initials: DM
authors.lastname: Behar
authors.forename: Mukaddes
authors.initials: M
authors.lastname: Gölge
authors.forename: Jiri
authors.initials: J
authors.lastname: Hatina
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
authors.forename: Daniel G
authors.initials: DG
authors.lastname: Bradley
authors.forename: Vincent
authors.initials: V
authors.lastname: Macaulay
authors.forename: António
authors.initials: A
authors.lastname: Amorim
mesh_terms: D001208:Asia; D044466:Asian People / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000032:analysis*; D005060:Europe; D018732:Forensic Anthropology; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial