Analysis of LMP and TAP polymorphisms by polymerase chain reaction-restriction fragment length polymorphism in rheumatoid arthritis

5 pages, 1 figure, 2 tables.-- PMID: 9536820 [PubMed].-- PMCID: PMC1752462.Full-text version available Open Access via PubMed Central at: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=9536820[Objective] The aim of this study was to investigate the relation between the polymorphism of large molecular weight proteasome (LMP) (LMP2-LMP7) and transporter associated with antigen processing (TAP) (TAP1-TAP2) genes and rheumatoid arthritis (RA).[Methods] Sixty RA patients and 102 ethnically matched unrelated healthy subjects were typed for LMP, TAP, and disease associated HLA-DRB1 alleles by using a new strategy based on polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with amplification created restriction sites.[Results] The polymorphism of LMP (LMP2-LMP7) and TAP (TAP1-TAP2) genes was examined in shared epitope positive and negative RA patients and controls. No significant differences in the LMP or TAP allele frequencies were observed between the total patient and control groups or the patients and controls positive or negative for the shared epitope.[Conclusion] The data suggest that the polymorphisms of LMP and TAP genes do not have an important influence in the pathogenesis of RA, although larger studies will be needed to provide more conclusive evidence on the role of these genes in RA. A new, highly reliable strategy for typing LMP alleles is also described.This work was supported by SAF93-0021 and SAF97-0046 grants from Plan Nacional de I+D (CICYT). A Nieto has a fellowship from FIS nº95/5333.Peer reviewe

Avances en el estudio de las bases genéticas y organolépticas del cacao fino o de aroma en el Perú

Las variedades de cacao fino o de aroma en el Perú son utilizados para elaborar los mejores chocolates del mundo por sus exquisitas y poco comunes características organolépticas, Estas características permiten que el cacao peruano gane reconocimiento internacional y de ahí su gran valor económico. A pesar de esto, poco se sabe sobre los componentes genéticos y/o ambientales que contribuyen a la exclusividad de este valioso recurso económico. En el proyecto de investigación aplicada: “Estudio molecular de la diversidad genética de los cacaos aromáticos en el Perú con fines del fortalecimiento de su competitividad y aumento de la producción nacional de cacao de calidad”, financiado por Innóvate Perú del Ministerio de la Producción, se tiene como objetivos determinar la variabilidad genética y caracterización organoléptica de más de 100 tipos de cacao fino o de aroma que se cultivan a lo largo de las cinco principales regiones del Perú (Amazonas, Cusco, San Martin, Piura y Huánuco). Adicionalmente, la Universidad Nacional Agraria de la Selva en Tingo María y el Instituto de Investigaciones de la Amazonia Peruana en Tarapoto, hospedarán bancos de germoplasma y de propagación de esquejes para la difusión y estudios de estos valiosos recursos. Hasta inicios del 2017, ya se han recolectado más de 80 genotipos provenientes de las cinco regiones. Protocolos para análisis sensoriales que cumplan los más rigurosos estándares internacionales se han venido estableciendo. Por otro lado, técnicas de marcadores moleculares usando marcadores de DNA tipo SSR y SNPs, seguido por secuenciamiento de ADN, se vienen estableciendo. Estudios de asociación de fenotipo-genotipo formarán parte del conocimiento generado en este proyecto. Adicionalmente, estos conocimientos permitirán generar información genómica valiosa para salvaguardar nuestra biodiversidad nativa, otorgándole a los productores y sus asociaciones de herramientas para proteger sus recursos genéticos y a los potenciales mejoradores de cacao más luces en cuanto a la asociación genotipo-calidad. Se espera que a fin del proyecto, se cuente con los resultados de genotipificación de más de 100 genotipos de cacao fino o de aroma y mediante el resecuenciamiento se revelen SNPs particulares para cada grupo genético en cada región muestreada

Tumor Necrosis Factor-α +489G/A gene polymorphism is associated with chronic obstructive pulmonary disease

BACKGROUND: Chronic obstructive pulmonary disease (COPD) is characterized by a chronic inflammatory process, in which the pro-inflammatory cytokine Tumor Necrosis Factor (TNF)-α is considered to play a role. In the present study the putative involvement of TNF-α gene polymorphisms in pathogenesis of COPD was studied by analysis of four TNF-α gene polymorphisms in a Caucasian COPD population. METHODS: TNF-α gene polymorphisms at positions -376G/A, -308G/A, -238G/A, and +489G/A were examined in 169 Dutch COPD patients, who had a mean forced expiratory volume in one second (FEV1) of 37 ± 13%, and compared with a Dutch population control group of 358 subjects. RESULTS: The data showed that the TNF-α +489G/A genotype frequency tended to be different in COPD patients as compared to population controls, which was due to an enhanced frequency of the GA genotype. In line herewith, carriership of the minor allele was associated with enhanced risk of development of COPD (odds ratio = 1.9, p = 0.009). The other TNF-α gene polymorphisms studied revealed no discrimination between patients and controls. No differences in the examined four TNF-α polymorphisms were found between subtypes of COPD, which were stratified for the presence of radiological emphysema. However, comparison of the COPD subtypes with controls showed a significant difference in the TNF-α +489G/A genotype in patients without radiological emphysema (χ(2)-test: p < 0.025 [Bonferroni adjusted]), while no differences between COPD patients with radiological emphysema and controls were observed. CONCLUSION: Based on the reported data, it is concluded that COPD, and especially a subgroup of COPD patients without radiological emphysema, is associated with TNF-α +489G/A gene polymorphism

A Dual-Phase-Lag Diffusion Model for Predicting Intermetallic Compound Layer Growth in Solder Joints

A dual-phase-lag diffusion (DPLD