Determinació del subgrup de 7-Sylow d'una corba el·líptica

La criptografia de corbes el·líptiques ha despertat un interés molt gran degut a que garanteix la mateixa seguretat amb longituds de claus molt més petites.Tot i això, queden problemes oberts com el de trobar el cardinal d'una corba el·líptica sobre un cos finit, que és un problema computacionalment difícil. En aquest treball estudiem i implementem un algoritme per determinar el subgrup de 7-Sylow d'una corba el·líptica. El coneixement d'aquest subgrup ens dóna informació parcial del cardinal de la corba, concretament, la potència del factor 7 que té el cardinal. Així, si aquesta potència fos molt gran, la corba s'hauria de descartar per a usos criptogràfics basats en el problema del logaritme discret.

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism

Background: The human chromosome 8p23.1 region contains a 3.8–4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. The identification of single nucleotide polymorphisms (SNPs) tightly linked to the genomic orientation of a given region should be useful to indirectly evaluate the genotypes of large genomic orientations in the individuals. Results: We have identified 16 SNPs, which are in linkage disequilibrium (LD) with the 8p23.1 inversion as detected by fluorescent in situ hybridization (FISH). The variability of the 8p23.1 orientation in 150 HapMap samples was predicted using this set of SNPs and was verified by FISH in a subset of samples. Four genes (NEIL2, MSRA, CTSB and BLK) were found differentially expressed (p<0.0005) according to the orientation of the 8p23.1 region. Finally, we have found variable levels of mosaicism for the orientation of the 8p23.1 as determined by FISH. Conclusion: By means of dense SNP genotyping of the region, haplotype-based computational analyses and FISH experiments we could infer and verify the orientation status of alleles in the 8p23.1 region by detecting two short haplotype stretches at both ends of the inverted region, which are likely the relic of the chromosome in which the original inversion occurred. Moreover, an impact of 8p23.1 inversion on gene expression levels cannot be ruled out, since four genes from this region have statistically significant different expression levels depending on the inversion status. FISH results in lymphoblastoid cell lines suggest the presence of mosaicism regarding the 8p23.1 inversion.

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. This region contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb. These transcripts show multiple inter- and intrachromosomal copies, and extensive copy number and sequence variability. The sequencing of the "heterochromatic" regions of the human genome is likely to reveal many additional functional elements and provide important evolutionary information.

Y-chromosome diversity in native mexicans reveals continental transition of genetic structure in the Americas

The genetic characterization of Native Mexicans is important to understand multiethnic based features influencing the medical genetics of present Mexican populations, as well as to the reconstruct the peopling of the Americas. We describe the Y-chromosome genetic diversity of 197 Native Mexicans from 11 populations and 1,044 individuals from 44 Native American populations after combining with publicly available data. We found extensive heterogeneity among Native Mexican populations and ample segregation of Q-M242* (46%) and Q-M3 (54%) haplogroups within Mexico. The northernmost sampled populations falling outside Mesoamerica (Pima and Tarahumara) showed a clear differentiation with respect to the other populations, which is in agreement with previous results from mtDNA lineages. However, our results point toward a complex genetic makeup of Native Mexicans whose maternal and paternal lineages reveal different narratives of their population history, with sex-biased continental contributions and different admixture proportions. At a continental scale, we found that Arctic populations and the northernmost groups from North America cluster together, but we did not find a clear differentiation within Mesoamerica and the rest of the continent, which coupled with the fact that the majority of individuals from Central and South American samples are restricted to the Q-M3 branch, supports the notion that most Native Americans from Mesoamerica southwards are descendants from a single wave of migration. This observation is compatible with the idea that present day Mexico might have constituted an area of transition in the diversification of paternal lineages during the colonization of the Americas.

Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders

Genetic and functional data indicate that variation in the expression of the neurotrophin-3 receptor gene (NTRK3) may have an impact on neuronal plasticity, suggesting a role for NTRK3 in the pathophysiology of anxiety disorders. MicroRNA (miRNA) posttranscriptional gene regulators act by base-pairing to specific sequence sites, usually at the 3'UTR of the target mRNA. Variants at these sites might result in gene expression changes contributing to disease susceptibility. We investigated genetic variation in two different isoforms of NTRK3 as candidate susceptibility factors for anxiety by resequencing their 3'UTRs in patients with panic disorder (PD), obsessive-compulsive disorder (OCD), and in controls. We have found the C allele of rs28521337, located in a functional target site for miR-485-3p in the truncated isoform of NTRK3, to be significantly associated with the hoarding phenotype of OCD. We have also identified two new rare variants in the 3'UTR of NTRK3, ss102661458 and ss102661460, each present only in one chromosome of a patient with PD. The ss102661458 variant is located in a functional target site for miR-765, and the ss102661460 in functional target sites for two miRNAs, miR-509 and miR-128, the latter being a brain-enriched miRNA involved in neuronal differentiation and synaptic processing. Interestingly, these two variants significantly alter the miRNA-mediated regulation of NTRK3, resulting in recovery of gene expression. These data implicate miRNAs as key posttranscriptional regulators of NTRK3 and provide a framework for allele-specific miRNA regulation of NTRK3 in anxiety disorders.

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation

Background: Aproximately 5–10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using bacterial artificial chromosomes (BACs) and validated it using samples with cytogenetically defined copy number changes. We have studied 54 patients with idiopathic mental retardation and 20 controls subjects. Results: Known genomic aberrations were reliably detected on the array and eight novel submicroscopic imbalances, likely causative for the mental retardation (MR) phenotype, were detected. Putatively pathogenic rearrangements included three deletions and five duplications (ranging between 82 kb to one Mb), all but two affecting genes previously known to be responsible for XLMR. Additionally, we describe different CNV regions with significant different frequencies in XLMR and control subjects (44% vs. 20%). Conclusion:This tiling path array of the human X chromosome has proven successful for the detection and characterization of known rearrangements and novel CNVs in XLMR patients.

KH-7

El trabajo que presentamos a continuación analiza la situación de la empresa KH Lloreda en el mercado de productos desengrasantes. Concretamente hemos profundizado en la estrategia de márketing utilizada en la empresa a la hora de lanzar su producto KH-7.Decidimos elegir la empresa KH Lloreda y más concretamente el producto KH-7 porque nos llamó la atención que un producto destinado al uso diario de la limpieza del hogar hubiera tenido tanto éxito. ¿Cuál es la característica innovadora que hace que la gente prefiera este producto? Otro factor que también ha sido decisivo a la hora de elegir la empresa es la evolución de la compañía. Una empresa catalana de origen familiar ha logrado hacerse un hueco en el mercado y, en determinados sectores, ha logrado superar a grandes multinacionales. por esto hemos aprovechado esta ocasión para estudiar las estrategias que ha utilizado la empresa y más importante aún cómo las ha implementado para llegar hasta donde está ahora.El trabajo está estructurado en cuatro grandes partes. La primera trata de analizar los factores que pueden tener un impacto en la actividad de la empresa, tanto a nivel externo como dentro de la compañía.En la segunda hemos estudiado la estrategia que ha seguido la empresa al lanzar su producto KH-7, qué decisiones ha tomado, qué factores ha resaltado, de qué cosas han prescindido...La tercera comprende el análisis del apartado de márketing. Cómo ha dado a conocer la empresa el producto y cómo ha conseguido que los clientes se decanten por su producto antes que el de la competencia.Y por último, la cuarta parte del trabajo consiste en las conclusiones, analiza los resultados que hemos obtenido al estudiar cada una de las partes anteriores.por último creemos que es importante explicar brevemente qué esperamos obtener nosotros de la realización de este proyecto. Creemos que lo más importante que podemos aprender de él es que no sólo triunfan las grandes marcas y las grandes multinacionales con presencia mundial. Si se encuentra una buena idea de negocio, que normalmente viene dada por un hueco en el mercado, y se desarrolla una política empresarial coherente con el nuevo producto, las posibilidades de tener éxito en el mercado son muy elevadas, y con este trabajo intentamos demostrarlo.