Since its discovery in 1985 by Alec Jeffreys, forensic DNA profiling has emerged as an immensely powerful technology. In this chapter, the development of genetic approaches to forensic human identification will be discussed in a variety of contexts, including the analysis of skeletal remains and other trace evidence. The use of autosomal, X and Y chromosome genetic loci and maternallyinherited mitochondrial DNA in relationship analysis will be briefly reviewed. More recent advances in the application of single nucleotide polymorphisms (SNPs) and next-generation sequencing (NGS) to human identification, particularly in the development of ancestry informative markers (AIMS) and externally visible characteristics (EVCs) will also be introduced, with related socio-ethical issues. A range of case studies are used to illustrate application of these technologies. Forensic genetics has a range of roles in missing person cases, including homicides and human rights related investigations. It is also important in the investigation of living missing persons, including trafficked children and persons displaced due to conflict and migration.Iwamura, E. S. M., . DNA methods to identify missing persons. In Morewitz, S.J. and Sturdy Colls, C. (eds.), Handbook of Missing Persons, New York: Springer, p. 337-52. ISBN 978-3-319-10197-3 (print), 978-3-319-40199-7 (online) doi:10.1007/978-3-319-40199-7_22 3
KeywordsMissing persons, human identification, DNA profiling, kinship analysis, STR, ChrX, ChrY, mtDNA
IntroductionHuman identification by DNA analysis in missing person cases typically involves comparison of two categories of sample: a reference sample, which could be obtained from intimate items of the person in question or from family members, and the questioned sample from the unknown person-usually derived from the bones, teeth, or soft tissues of human remains. Exceptions include the analysis of archived tissues, such as those held by hospital pathology departments, and the analysis of samples relating to missing, but living persons. DNA is extracted from the questioned and reference samples and well characterized regions of the genetic code are amplified from each source using the Polymerase Chain Reaction (PCR), which generates sufficient copies of the target region for visualization and comparison of the genetic sequences obtained from each sample. If the DNA sequences of the questioned and reference samples differ, this is normally sufficient for the questioned DNA to be excluded as having come from the same source as the individual for whom the reference sample was provided. If the sequences are identical, statistical analysis is necessary to derive the probability that the match is a consequence of the questioned sequence coming from the same individual who provided the reference sample or from some other randomly-occurring individual in the general population. Match probabilities that are currently achievable are frequently greater than 1 in 1 billion, allowing identity to be assigned with considerable c...