Identification of human remains by immobilized sequence-specific oligonucleotide probe analysis of mtDNA hypervariable regions I and II.

Aim: A rapid analysis of mitochondrial DNA (mtDNA) sequences with an array of immobilized sequence-specific oligonucleotide (SSO) probes was tested on 18 skeletal elements recovered from mass graves in Croatia, which could not be genotyped with common forensic nuclear DNA systems (PM+DQA1 and short tandem repeat analysis).

Methods: We used duplex polymerase chain reaction (PCR) amplification of the mtDNA hypervariable regions I and II (HVI and HVII) (444 bp and 415 bp amplicons, respectively) and subsequent linear array typing, which targets six polymorphic regions and two additional sites within the human mtDNA HVI and HVII. The remaining amplified products were subjected to direct sequence analysis to obtain complete sequence information for the targeted HV regions.