Evaluating the forensic informativeness of mtDNA haplogroup H sub-typing on a Eurasian scale

Luísa Pereira, Martin Richards, Ana Goios, Antonio Alonso, Cristina Albarrán, Oscar Garcia, Doron M. Behar, Mukaddes Gölge, Jiri Hatina, Lihadh Al-Gazali, Daniel G. Bradley, Vincent Macaulay, António Amorim

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)43-50
Number of pages8
JournalForensic Science International
Issue number1
Early online date1 Aug 2005
Publication statusPublished - 25 May 2006
Externally publishedYes


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