Mass Disaster Victim Identification Assisted by DNA Typing

Abstract

At the beginning of the twentieth century, a relevant attribute of blood was detected by Karl Landsteiner (1901). His observations allowed the explanation of the underlying basis of “transfusion disease”. Precipitin detection shed light on the antigenic effect of blood transfusion disorders. Accordingly, Landsteiner’s contribution explained an induced immunological impairment and identified a monogenic polymorphism that was employed to complement kinship rejections. The ABO blood group, coded in the DNA, became the first molecular tool to be used in human identification (see also Chapter 40). This discovery was followed by many others that included diverse serological polymorphic markers disclosed by Landsteiner and others (Owen, 2000). Over five decades elapsed between the detection of the first informative molecular monogenic marker and the establishment of the molecular structure of the double helix (Watson and Crick, 1953), and over 80 years for the detection of DNA polymorphisms (Wyman and White, 1980). Therefore, for over 80 years, blood groups and other serological polymorphisms remained as the molecular diagnostic tools for inferring biological kinship. Besides the limitation imposed by their relatively reduced discriminatory power, these genetic markers required cell integrity and were not informative about the origin of the samples to be investigated – whether they came from evidentiary material or decomposed corpses or remains. Soon after, a true revolution came about in forensic science with two groundbreaking findings: Alec Jeffreys’s DNA fingerprinting (Jeffreys et al., 1985) and Kary Mullis’s development of the polymerase chain reaction (PCR; Mullis et al., 1986). The major impact was brought forth in the field of human identification in cases involving living or deceased people, since even a certain degree of DNA degradation was likely to be neglected by the analysis of small polymorphic regions, termed short tandem repeats or STRs, widely distributed all around the genome (Weber and Mayr, 1989; Edwards et al., 1991, 1992). The availability of this new analytical approach efficiently contributed to the development of strategies that permitted the identification of decomposed corpses and fragmentary human remains, often “by-products” of mass disasters, by comparing their genetic profiles with those of their putative relatives. This chapter will focus on the characterization of victims and human remains from mass disasters by DNA-based methods.