Identification of a decedent in a 103-year-old homicide case using forensic anthropology and genetic genealogy

Anthropologists are often the custodians of long-term unidentified human remains though their positions as curators of university or museum skeletal collections.Various factors decrease the solvability of these legacy cases including the passage of time,the loss of provenience for specific cases,and lack of documentation or case records.While anthropologists can contribute important information toward identification,it is often necessary to explore novel and cross-disciplinary strategies to resolve difficult cold cases.In long cold cases,the postmortem interval,in particular,may be difficult to estimate leading to further challenges in achieving identification.Modern advances in radiocarbon bomb pulse dating,isotope analysis,and actualistic studies have contributed to positive identification of unidentified human remains in some legacy cases,but may not be available to all forensic practitioners and law enforcement from resource-poor agencies.Pooling resources,as well as collaborating with professionals outside of forensic anthropology,is a useful strategy to pursue when anthropological methods are exhausted.The case study presented here demonstrates a collaborative approach between forensic anthropologists,forensic genetic genealogists,and law enforcement in a century-old homicide.The dismembered and mummified parts of a male body were recovered in a remote cave in 1979 and again in 1991.Despite forensic anthropologists creating and updating the biological profile over the decades from recovery to present,no identification was made until the application of forensic genetic genealogy(FGG)to the case in 2019.New interpretations of bone microstructure and trauma analysis are presented for the case,alongside the historical documentation and“proof of life”evidence used by the genealogy team.A review of the FGG methods underscores the challenges in this case(e.g.significant endogamy,multiple aliases used by the victim)and the steps taken toward resolution.Ultimately,a combined anthropology and genealogy approach resulted in a confirmed identity for a man who was murdered in 1916.

Genetic study of a large Chinese kindred with von Hippel-Lindau disease

Background Von Hippel-Lindau (VHL) disease is a heraditary cancer syndrome caused by germline mutations of the VHL tumor on the suppressor gene. This study was to show the clinical characteristics of a large Chinese kindred with von Hippel-Lindau disease and to evaluate the role of the genetic test of VHL disease in the diagnosis of VHL disease and clinical screening of members of the VHL disease family.Methods DNA extracted from peripheral blood was amplified by PCR to three exons of the VHL gene in 27 members of a large kindred with VHL disease. PCR products were directly sequenced. The involvements of multi-organs in the kindred with VHL disease were confirmed by history taking and radiography.Results Of 47 members in the four generations of the kindred, 18 members were diagnosed as having VHL desease. Clinical manifestations of 18 patients included: central nervous system (CNS) hemangioblastoma (5), renal cell carcinoma and CNS hemangioblastoma (3), renal cell carcinoma and retinal angioma (3), renal cell carcinoma and multiple pancreatic cysts (1), renal cell carcinoma and retinal angioma and multiple pancreatic cysts (2), renal cell carcinoma and CNS hemangioblastomas and multiple pancreatic cysts (1), and multiple pancreatic cysts and multiple renal cysts (1), multiple pancreatic cysts (2). The common lesions of the 18 patients were renal cell carcinoma (55.6%), CNS hemangioblastoma (50.0%), retinal angioma (27.8%), and multiple pancreatic cysts (38.9%). Among the 27 members who volunteered for genetic analysis, 15 members including 9 affected family patients and 2 asymptomatic patients and 4 carriers, who are still alive, presented a codon 78 from Asn to Ser change at nucleotide 446 (A→G) in exon 1. Four members were carriers with the same VHL gene mutation. Two asymptomatic patients were initially diagnosed by genetic testing and subsequently confirmed radiologically and surgically. Members without gene mutation had no clinical evidence of VHL disease.Conclusions The large Chinese kindred with VHL disease was classified as type Ⅰ. The main characteristics in the kindred were higher incidence of renal cell carcinoma and lower incidence of retinal angioma. Genetic test plays an important role in early detecting asymptomatic patients and the carriers in clinical screening of members of the families with VHL disease. It is also important to prevent the transmission of VHL disease to their offsprings in the kindred.