Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs

Tests that infer the ancestral origin of a DNA sample have considerable potential in the development of forensic tools that can help to guide crime investigation. We have developed a single-tube 34-plex SNP assay for the assignment of ancestral origin by choosing ancestry-informative markers (AIMs) exhibiting highly contrasting allele frequency distributions between the three major population-groups. To predict ancestral origin from the profiles obtained, a classification algorithm was developed based on maximum likelihood. Sampling of two populations each from African, European and East Asian groups provided training sets for the algorithm and this was tested using the CEPH Human Genome Diversity Panel. We detected negligible theoretical and practical error for assignments to one of the three groups analyzed with consistently high classification probabilities, even when using reduced subsets of SNPs. This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay.     

Sensitive and specific quantification of human genomic deoxyribonucleic acid (DNA) in forensic science specimens: casework examples.

We describe the forensic science application of a method for quantification of human genomic deoxyribonucleic acid (DNA). The two cases cited in this report involve DNA samples extracted from skin tissue and bloodstained clothing recovered from different crime scenes. High-molecular-weight DNA was recovered from both specimens, and the concentrations of these DNAs were estimated to be approximately 0.5 microgram/microL by ethidium bromide/agarose gel electrophoresis. Using the human-specific DNA probe p17H8 (locus D17Z1) to quantify the amount of human genomic DNA in these samples, it is shown that less than 1% of the DNA isolated from the skin tissue is of human origin and that the DNA isolated from the bloodstained clothing is effectively devoid of human DNA sequences. These case examples illustrate the need to quantify not only the total amount of DNA recovered from forensic casework material, but also the proportion of the DNA that is of human origin.     

Sexual asphyxia in siblings

We present an accidental autoerotic asphyxiation of a 24-year-old man. Further investigation revealed that 18 years earlier, his brother, then 13, had been found dead, hanging in the family bathroom. Although that death had been ruled a suicide, reevaluation of the death scene indicates that this was also an autoerotic asphyxiation. This is the first reported case of sexual asphyxia involving siblings.     

Azygos vein laceration due to blunt trauma

The azygos vein ascends along the thoracic spine through the mediastinum and drains into the superior vena cava at the level of the fourth thoracic vertebra. Fracture-dislocation of the mid-thoracic spine, as a result of blunt thoracic trauma, can tear the azygos vein. Four such fatal cases (three motor vehicle accidents and one fall) were studied, only one of which was recognized prior to death. The vein can also be torn, in the absence of skeletal injuries, by horizontal acceleration/deceleration forces. The pathologist must consider azygos vein laceration as a possible cause of either hemothorax or hemomediastinum or both in a victim of a blunt chest trauma, if that individual had persistent hypotension during the few hours before death and no identifiable source of hemorrhage can be found postmortem in sites such as the heart, great vessels, lung, and chest wall. A fracture-dislocation of the thoracic spine may not necessarily be present. Azygos vein laceration seems to be an uncommon cause of hemothorax and hemomediastinum; however, this injury is probably more frequent than is implied by the few cases described in the medical literature.