Gustavo Penacino

Reference database of hypervariable genetic markers of Argentina: Application for molecular anthropology and forensic casework

The population of Argentina is mostly composed of people of European ancestry. Aboriginal communities are at present very reduced in number and restricted to small geographically isolated patches. Three aboriginal communities, the Mapuche, Tehuelche and Wichi, were selected for short tandem repeat (STR) investigation. The metropolitan population of the city of Buenos Aires was analyzed, with both micro‐ and minisatellites. The minisatellite loci D1S7, D2S44, D4S139, D5S110, D8S358, D10S28, and D17S26 were typed on HaeIII‐digested DNA obtained from unrelated individuals. D1S80 was typed by polymerase chain reaction (PCR). The autosomal STRs THO1, FABP, D6S366, CSF1PO, TPOX, F13A1, FES/FPS, vWA, MBPA/B, D16S539, D7S820, D13S317, and RENA4 and the sex chromosome STRs HPRTB, DYS385, DYS389I, DYS389II, DYS19, DYS390, DYS391, DYS392, DYS393 and YCAII were also investigated. As a by‐product of our investigations, a reference database was created that is routinely used in forensic casework and paternity testing. STR allele frequency distributions are characterized by significant differences within and also between different populations. In contrast, the minisatellite bin distribution of the metropolitan population is not significantly different from other Caucasian populations.

Cadaveric DNA Extraction Protocol Based on Cetyl Trimethyl Amonium Bromide (CTAB)

DNA extraction from fresh tissues is a straightforward process that can be accomplished by a wide variety of procedures. Such techniques are usually employed efficiently in DNA typing laboratories. However, in forensic DNA analysis the extraction protocol is the limiting factor that determines the success of a molecular investigation. In this field, blood and semen stains and vaginal and oral swabs required the development of suitable and highly efficient protocols.

Dealing with Human Remains Sampled in Disaster Areas the Case of the Israelian Embassy Explosion Ocurred in Buenos Aires

With the advent of the molecular techniques that allowed the comparison of individual-specific hypervariable DNA sequences (Jeffreys et al., 1985), introducing a dramatical conceptual change in forensic sciencse and so paternity testing, forensic identification of biological stains and human remains have become one of the frequent requirements made by the Justice to DNA typing laboratories in an increasing number of countries all around the world.The evolution of molecular identification techniques paralleled other advances in molecular biology. The Southern blotting approach (Southern, 1975) that allowed minisatellite analysis was more recently complemented by PCR technology (Mullis et al. 1988) which at its time permitted efficient evaluation of HLA alleles, microsatellite variants and mitochondrial DNA sequencing.

Post-Mortem Molecular Identification. Biological Kinship Established by DNA Analysis.

Molecular characterization allowes to identify individuals when potential relatives are available. Conventional DNA typing complemented with PCR-based forensic analyses such as Short Tandem Repeats (STR) and HLA-DQα evaluation broaden the perspectives in forensic field. The possibility of molecular identification of old cadavers was almost impossible Just a few years ago. However, current methodologies made possible the molecular characterization of such remains.

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.