Improved Y-STR typing for disaster victim identification, missing persons investigations, and historical human skeletal remains

Abstract

Bones are a valuable source of DNA in forensic, anthropological, and archaeological investigations. There are a number of scenarios in which the only samples available for testing are highly degraded and/or skeletonized. Often it is necessary to perform more than one type of marker analysis on such samples in order to compile sufficient data for identification. Lineage markers, such as Y-STRs and mitochondrial DNA (mtDNA), represent important systems to complement autosomal DNA markers and anthropological metadata in making associations between unidentified remains and living relatives or for characterization of the remains for historical and archaeological studies. In this comparative study, Y-STR typing with both Yfiler™ and Yfiler™ Plus (Thermo Fisher Scientific, Waltham, MA, USA) was performed on a variety of human skeletal remains, including samples from the American Civil War (1861-1865), the late nineteenth century gold rush era in Deadwood, SD, USA (1874-1877), the Seven Years' War (1756-1763), a seventeenth-century archaeological site in Raspenava, Bohemia (Czech Republic), and World War II (1939-1945). The skeletal remains used for this study were recovered from a wide range of environmental conditions and were extracted using several common methods. Regardless of the DNA extraction method used and the age/condition of the remains, 22 out of 24 bone samples yielded a greater number of alleles using the Yfiler™ Plus kit compared to the Yfiler™ kit using the same quantity of input DNA. There was no discernable correlation with the degradation index values for these samples. Overall, the efficacy of the Yfiler™ Plus assay was demonstrated on degraded DNA from skeletal remains. Yfiler™ Plus increases the discriminatory power over the previous generation multiplex due to the larger set of Y-STR markers available for analysis and buffer modifications with the newer version kit. Increased haplotype resolution is provided to infer or refute putative genetic relationships.

Y‐chromosome short tandem repeats in forensics—Sexing, profiling, and matching male DNA

“…In several countries, the Y chromosome in combination with other parts of the genome is used for the identification of unknown corpses or dismembered body parts of missing persons (Ambers, Votrubova, Vanek, Sajantila, & Budowle, 2018). In such cases DNA-based intelligence often competes with non-DNA methods like isotope analysis or facial reconstruction.…”

Exploring sexual dimorphism of the modern human talus through geometric morphometric methods

“…In forensic osteology, the identification of human remains is the primary focus, often requiring investigators to build a biological profile of one or more deceased individuals [6][7][8][9]. Often, this serves a humanitarian need in providing closure, as deaths occur under natural, criminal, and catastrophic circumstances [8,[10][11][12][13][14]. One of the crucial aspects of forming a biologic profile is the estimation of an individual's sex, being that this characteristic informs many other quantitative estimations (e.g.…”

A Novel Panel of 43 Insertion/Deletion Loci for Human Identifications of Forensic Degraded DNA Samples: Development and Validation

“…Human identification (HID) is one of dominating tasks in the forensic genetic field. Polymerase chain reaction-short tandem repeat (PCR-STR) analyses on capillary electrophoresis platform, which have been regarded as the "gold standard" for HID for more than 20 years (Zhang et al, 2018), are not only applied in criminal justice cases, but also in other aspects which include the identifications of missing persons, paternity tests and mass disaster victims (Zietkiewicz et al, 2012;Li et al, 2017;Ambers et al, 2018). However, STR analysis sometimes may result in unreliable conclusions due to relatively large amplified fragments and high mutation rates, especially when the biological samples from crime scene investigation are degraded or rotten.…”