Miguel Marino

Genetic attributes of the YHRD minimal haplotype in 10 provinces of Argentina

We investigated nine Y-STRs on 1136 unrelated males from 10 provinces and three aboriginal tribes of Argentina. The urban populations depicted 654 different haplotypes (66%) and a haplotype diversity (HD) value of 0.9967. Meanwhile, the Amerindian groups ranged from 20 to 26 different haplotypes (62.5-38.2%) and the HD values from 0.8635 to 0.9586. By AMOVA it was determined a remarkable homogeneous haplotype distribution, nevertheless a certain degree of genetic substructure was detected in the North region, in particular in Salta population. Genetic distance allowed to identify three clusters one of them included Salta population and the Amerindian tribes. The results presented herein showed the impact of the European male genetic contribution on the aboriginal gene pool that can be, at present, assessed by analyzing the nowadays extant population.

Uniparentally inherited genetic markers as tools for ethnic and geographical origin detection of forensic samples

Abstract Uniparentally inherited polymorphic genetic markers opened a new scope in the human forensic identification. These genetic markers may display geographic and/or ethnic specific characteristic features that may provide a clue about the origin of the donor of a given sample. Maternally inherited mitochondrial (mtDNA) polymorphisms and paternatilly transmitted Y-chromosome specific polymorphic sequences when investigated in combination may provide relevant information concerning the ethnic/geographical origin of a person. Some populations are particularly more suited for these investigations due to their differential attributes. South American aboriginal are a good example. In this contribution, we provide information about an isolated aboriginal community that depicts ethnic specific attributes. The combined use of matri and patri lineage markers allowed to estimate the admixture at the individual level.

Molecular evaluation of victims of sudden death: a promising approach for excluding criminal responsibility

Abstract Sudden death constitutes one of the most frequent causes of death in adults. In order to look for genetic markers that could play a role in the sudden death in adults (SDA), the common deletions of 4977 bp in the mitochondrial DNA and variations in the apoB gene were studied. The correlation of mtDNA common deletion with SDA victims might offer a rapid and simple tool to provide additional information in complex SDA investigations

Penta-, nona- and decaplex Y-STR typing systems: a comparative study

Abstract The analysis of Y chromosome-specific short tandem repeat (Y-STR) haplotypes allows patrilineage tracking and complements the highly robust autosomal STR systems used in forensic and kinship identification. Since 1994, in our lab, the use of the Y-STR Y27H39 (DYS19) was implemented. Later on, increasing availability of Y-STRs has broadened the patrilineage tracking potential. A complete nonaplex Y-STR set, including DYS385, 389 I and II, 390, 391, 392, 393 and DYS19, was investigated in 1995, provided information for the Charite Reference Database from Argentina and supported forensic casework investigations. For forensic purposes, we selected a pentaplex including: DYS19, DYS390, DYS391, DYS392 and DYS393. More recently, a decaplex, including DYS435, 436, 437, 438, 439, A7.1, H4, DYS19, DYS391 and DYS392, became available. In order to evaluate the penta-, nona- and decaplex Y-STR systems, unrelated Argentine males were analyzed (500, 100 and 104, respectively) by using an automated platform (ABI 310). For rapid forensic investigations, in which autosomal STR analysis is required, the pentaplex might be considered; if more informative data is required, nonaplex should be selected, especially due to worldwide internet supported Y-STR reference databases. It is suggested that part of the decaplex Y-STR markers should be included in the Charite Database in order to stimulate the systems use.

Incestuous offspring detection inference by VNTR homozygosity increment

Abstract Sexual relations between parent and offspring and between sister and brother are defined as incest. People involved are legally prohibited from marrying each other because of their close relationship. Usually, when children are involved, violence and sexual abuse are committed. Recent studies have indicated that incest, although rarely discussed, is an increasing problem in modern society. Prohibition of incest as a form of social behaviour may rely on a genetic basis. It is known that inbreeding fosters the concentration of undesirable recessive genes. The only unbiased approach for incestuous offspring identification is DNA typing. In some cases, incest detection may arise during a regular paternity test. The aim of this contribution is to present the comparative analysis of incest and non-incest cases. This contribution may facilitate the interpretation of cases in which the incest victim is unavailable.