Personal identification and missing persons initiatives in Santa Catarina state, Brazil: forensic perspectives from 2019 to 2021.

Santa Catarina is a small, developed, and relatively safe state in South Brazil. Despite having positive social economic indicators, it still faces multiple challenges regarding forensic practices for personal identification. The objective of this paper is to discuss the recent advances and current challenges in the region, from the perspectives of anthropological and dental postmortem human identification, missing persons, and disaster victim identification (DVI) from 2019 to 2021. The recent creation of a Forensic Anthropology Sector (SAF) in the state's official forensic institution (Polícia Científica-PCI) has significantly improved identification of unidentified remains and optimised resources available for DNA analysis. However, SAF is still quite understaffed, which negatively affects the recovery of skeletal material, its preparation, and the time needed for filing reports. Santa Catarina has passed legislation for missing persons in 2015, 4 years prior to the sanction of federal laws implementing the national policy for the disappeared. Nonetheless, a lack of integration between stakeholders remains a problem that PCI has tried to circumvent with the Conecta Programme, a multidisciplinary and integrated initiative between families of the missing persons, police agencies, and the Public Ministry. The programme aims to collect not only reference DNA samples, but also relevant anthropological and dental data. It also offers facial progression services in cases of disappearances that occurred many years ago. Despite a history of disasters in the state, PCI still needs to implement international DVI standards at an institutional level. Recent training on Phase 1 DVI procedures, integrated with other responding institutions, indicates better preparation for future disasters. There are many challenges ahead for Santa Catarina's forensic institution and professionals that have yet to be addressed, but the overall situation on routine personal identification, missing persons initiatives, and DVI has improved over the last 2 years.

Population genetic data and forensic parameters of 30 autosomal InDel markers in Santa Catarina State population, Southern Brazil.

The application of DNA technology in forensic investigations has grown rapidly in the last 25 years and with an exponential increase of short tandem repeats (STRs) data, usually presented as allele frequencies, that may be later used as databases for forensic and population genetics purposes. Thereby, classes of molecular markers such as single nucleotide polymorphisms and insertions/deletions (InDels) have been presented as another option of genetic marker sets. These markers can be used in paternity cases, when mutations in STR polymorphisms are present, as well as in highly degraded DNA analysis. In the present study, the allele frequencies and heterozygosity (H) of a 30 InDel markers set were determined and the forensic efficacy was evaluated through estimation of discrimination power (DP), match probability, typical paternity index and power of paternity exclusion in 108 unrelated volunteers from the State of Santa Catarina (South Brazil). The observed H per locus showed a range between 0.370 and 0.574 (mean = 0.479). HLD128 was the locus with the highest DP (DP = 0.656). DP for all markers combined was greater than 99.9999999999646 % which provides satisfactory levels of information for forensic demands. Genetic comparisons (exact tests of population differentiation and pairwise genetic distances) revealed that the population of Santa Catarina State differs from Korea and USA Afro-American populations but is similar to the Portuguese, German, Polish, Spanish and Basque populations.

Identification of a novel HLA-A allele, HLA-A*0355, in a Brazilian family of eastern European descendents.

The new human leukocyte antigen (HLA) class I allele, HLA-A*0355 was identified in a Brazilian family. Our sequence analysis detected a mismatch located in exon 2, codon 86, at position 258 (C-->A) that results in a nonsilent and nonconservative substitution with the replacement of asparagine by lysine. Substitutions located at this oligosaccharide attachment site of the protein were observed in only other four classic HLA class I sequences, indicating a highly conserved peptide site however its function remains unknown.