ADN forense: problemas éticos y jurídicos

Coordinació: María Casado y Margarita GuillénLos análisis genéticos afectan a derechos fundamentales, por lo que el uso de esta información debe estar supeditado a vías de control democrático. En la actualidad, la lucha contra grandes delitos, como por ejemplo el terrorismo, aparentemente legitima a invadir derechos antes considerados intangibles. La presente obra, fruto del trabajo multidisciplinar llevado a cabo por juristas, filósofos, biólogos, técnicos y médicos, tiene por objetivo poner de manifiesto cuáles son los problemas ético-jurídicos derivados de la obtención, el análisis y el almacenamiento del ADN, así como sus usos judiciales y extrajudiciales. Ante el difícil equilibrio entre libertad individual y seguridad colectiva, este libro ayuda a comprender los conflictos que subyacen en el manejo de una herramienta informativa tan poderosa como son las muestras y los perfiles del ADN

The Interplay between Natural Selection and Susceptibility to Melanoma on Allele 374F of SLC45A2 Gene in a South European Population

We aimed to study the selective pressures interacting on SLC45A2 to investigate the interplay between selection and susceptibility to disease. Thus, we enrolled 500 volunteers from a geographically limited population (Basques from the North of Spain) and by resequencing the whole coding region and intron 5 of the 34 most and the 34 least pigmented individuals according to the reflectance distribution, we observed that the polymorphism Leu374Phe (L374F, rs16891982) was statistically associated with skin color variability within this sample. In particular, allele 374F was significantly more frequent among the individuals with lighter skin. Further genotyping an independent set of 558 individuals of a geographically wider population with known ancestry in the Spanish population also revealed that the frequency of L374F was significantly correlated with the incident UV radiation intensity. Selection tests suggest that allele 374F is being positively selected in South Europeans, thus indicating that depigmentation is an adaptive process. Interestingly, by genotyping 119 melanoma samples, we show that this variant is also associated with an increased susceptibility to melanoma in our populations. The ultimate driving force for this adaptation is unknown, but it is compatible with the vitamin D hypothesis. This shows that molecular evolution analysis can be used as a useful technology to predict phenotypic and biomedical consequences in humans

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.RP is supported by a postdoctoral fellowship (SFRH/BPD/81986/2011) awarded by the Portuguese Foundation for Science and Technology (FCT) and co-financed by the European Social Fund (Human Potential Thematic Operational Programme – POPH

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.Instituto Multidisciplinario de Biología CelularFacultad de Ciencias Naturales y Muse

ADN forense: problemas éticos y jurídicos

Los análisis genéticos afectan a derechos fundamentales, por lo que el uso de esta información debe estar supeditado a vías de control democrático. En la actualidad, la lucha contra grandes delitos, como por ejemplo el terrorismo, aparentemente legitima a invadir derechos antes considerados intangibles. La presente obra, fruto del trabajo multidisciplinar llevado a cabo por juristas, filósofos, biólogos, técnicos y médicos, tiene por objetivo poner de manifiesto cuáles son los problemas ético-jurídicos derivados de la obtención, el análisis y el almacenamiento del ADN, así como sus usos judiciales y extrajudiciales. Ante el difícil equilibrio entre libertad individual y seguridad colectiva, este libro ayuda a comprender los conflictos que subyacen en el manejo de una herramienta informativa tan poderosa como son las muestras y los perfiles del ADN