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Sample records for gen hfe se

  1. Grand résumé de Le Réel et le virtuel. Genèse de la compréhension, genèse de l’action, Genève-Paris, Librairie Droz, 2009

    Directory of Open Access Journals (Sweden)

    André Petitat

    2012-01-01

    Full Text Available Au tournant linguistique et à ses avatars structuralistes a succédé un tournant cognitiviste mettant l’accent sur les compétences de l’acteur. Mon livre Le Réel et le virtuel est issu de la curiosité d’un sociologue pour certaines recherches psychologiques relatives à la genèse de la compréhension de l’action chez l’enfant, notamment pour celles du courant dit de la théorie de l’esprit. À l’heure où la sociologie compréhensive domine le paysage sociologique et où l’individu y occupe le devant...

  2. Patrimoine linguistique au Kenya : Genèse et évolution du Sheng

    African Journals Online (AJOL)

    Pof

    On ignore les exactes circonstances qui auraient contribué à l'émergence de cet idiome en. 2 Selon le ... guerre mondiale qui prit fin en 1945 beaucoup de jeunes Kenyans se ruent dans la ville de. Nairobi en quête de ..... cet état de choses ?

  3. Molecular basis of HFE-hemochromatosis

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    Maja eVujic Spasic

    2014-03-01

    Full Text Available Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH. The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-hemochromatosis as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH associated pathologies.

  4. Molecular basis of HFE-hemochromatosis.

    Science.gov (United States)

    Vujić, Maja

    2014-01-01

    Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-HH as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorption from the diet and iron deposition in tissues causing multiple organ damage and failure. This review focuses on the molecular actions of the HFE/Hfe and hepcidin in maintaining systemic iron homeostasis and approaches undertaken so far to combat iron overload in HFE/Hfe-HH. In the light of the recent investigations, novel roles of extra-hepatocytic Hfe are discussed raising a question to the relevance of the multipurpose functions of Hfe for the understanding of HH-associated pathologies.

  5. HFE gene: Structure, function, mutations, and associated iron abnormalities.

    Science.gov (United States)

    Barton, James C; Edwards, Corwin Q; Acton, Ronald T

    2015-12-15

    The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical and pathologic manifestations of hemochromatosis were reported. Linked to the major histocompatibility complex (MHC) on chromosome 6p, HFE encodes the MHC class I-like protein HFE that binds beta-2 microglobulin. HFE influences iron absorption by modulating the expression of hepcidin, the main controller of iron metabolism. Common HFE mutations account for ~90% of hemochromatosis phenotypes in whites of western European descent. We review HFE mapping and cloning, structure, promoters and controllers, and coding region mutations, HFE protein structure, cell and tissue expression and function, mouse Hfe knockouts and knockins, and HFE mutations in other mammals with iron overload. We describe the pertinence of HFE and HFE to mechanisms of iron homeostasis, the origin and fixation of HFE polymorphisms in European and other populations, and the genetic and biochemical basis of HFE hemochromatosis and iron overload. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Molecular basis of HFE-hemochromatosis

    OpenAIRE

    Vujić, Maja

    2014-01-01

    Iron-overload disorders owing to genetic misregulation of iron acquisition are referred to as hereditary hemochromatosis (HH). The most prevalent genetic iron overload disorder in Caucasians is caused by mutations in the HFE gene, an atypical MHC class I molecule. Recent studies classified HFE/Hfe-hemochromatosis as a liver disease with the primarily failure in the production of the liver iron hormone hepcidin in hepatocytes. Inadequate hepcidin expression signals for excessive iron absorptio...

  7. HFE and Spherical Cryostats MC Study

    International Nuclear Information System (INIS)

    Brodsky, Jason P.

    2016-01-01

    The copper vessel containing the nEXO TPC is surrounded by a buffer of HFE, a liquid refrigerant with very low levels of radioactive element contamination. The HFE is contained within the cryostat's inner vessel, which is in turn inside the outer vessel. While some HFE may be necessary for stable cooling of nEXO, it is possible that using substantially more than necessary for thermal reasons will help reduce backgrounds originating in the cryostats. Using a larger amount of HFE is accomplished by making the cryostat vessels larger. By itself, increasing the cryostat size somewhat increases the background rate, as the thickness of the cryostat wall must increase at larger sizes. However, the additional space inside the cryostat will be filled with HFE which can absorb gamma rays headed for the TPC. As a result, increasing the HFE reduces the number of backgrounds reaching the TPC. The aim of this study was to determine the relationship between HFE thickness and background rate. Ultimately, this work should support choosing a cryostat and HFE size that satisfies nEXO's background budget. I have attempted to account for every consequence of changing the cryostat size, although naturally this remains a work in progress until a final design is achieved. At the moment, the scope of the study includes only the spherical cryostat design. This study concludes that increasing cryostat size reduces backgrounds, reaching neglible backgrounds originating from the cryostat at the largest sizes. It also shows that backgrounds originating from the inherent radioactivity of the HFE plateau quickly, so may be considered essentially fixed at any quantity of HFE.

  8. Le chemin des amours barbares, Genèse médiévale de la sexualité européenne

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    Jean-Pierre Poly

    2009-05-01

    Full Text Available A lui seul, le titre mérite l’attention, plus qu’une formule enlevée suivie d’un sous-titre explicatif, il renvoie à la double image que nous nous faisons du Moyen Age dont nous sommes les héritiers : du chemin à la genèse, des amours (féminines au pluriel, n’oublions pas ce charme de la langue française à la sexualité, des Barbares à l’Europe médiévale. Toute l’ambivalence du regard que l’on peut poser sur la question dont va traiter l’ouvrage est déjà perceptible. Amour(s ? et sexualité, ...

  9. Pode a genética definir quem deve se beneficiar das cotas universitárias e demais ações afirmativas?

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    Sérgio D.J. Pena

    2004-04-01

    Full Text Available NESTE TRABALHO nós usamos o instrumental da genética molecular e da genética de populações para estimar quantitativamente a contribuição africana para a formação do povo brasileiro. Examinamos dois compartimentos genômicos: o DNA mitocondrial, de herança matrilínea, e o DNA nuclear, de herança bi-parental. Os estudos mitocondriais revelaram que aproximadamente 30% dos brasileiros autoclassificados como brancos e 80% dos negros apresentam linhagens maternas características da áfrica subsaariana. A partir destes dados, estimamos que pelo menos 89 milhões de brasileiros são afro-descendentes, um número bem superior aos 76 milhões de pessoas que se declararam negros (pretos e pardos no censo de 2000 do IBGE. As análises de polimorfismos nucleares com marcadores "informativos de ancestralidade" mostraram resultados mais expressivos ainda. Usando estudos de brasileiros autoclassificados como brancos de várias regiões do Brasil, estimamos que aproximadamente 146 milhões de brasileiros (86% da população apresentam mais de 10% de contribuição africana em seu genoma. Estes números devem ser levados em conta nas discussões sobre ações afirmativas no Brasil, mas em um sentido descritivo e não prescritivo.IN THIS ARTICLE we used tools of molecular and population genetics to estimate quantitatively the African contribution for the formation of the Brazilian population. We examined two genomic compartments: mitochondrial DNA (mtDNA, maternally inherited, and nuclear DNA, inherited from both parents. The studies using mtDNA showed that about 30% of Brazilians self-classified as White and 80% of Brazilian Negroes carry maternal lineages typical of Sub-Saharan Africa. Using these data we could estimate that at least 89 million Brazilians are afrodescendants, a number considerably larger than the 76 million individuals self-classified as Negro in the 2000 census. The analyses on nuclear polymorphisms employed "ancestry informative

  10. Genèse phénoménologique de la reconnaissance: La chair, l’autre et le corps propre

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    David-Le-Duc Tiaha

    2011-06-01

    Full Text Available En amont des représentations collectives et des formes instituées de la vie sociale, cet article se propose d’étudier l’articulation de l’intersubjectivité et de l’incarnation dans la constitution du soi et de l’autre comme une genèse phénoménologique de la reconnaissance à travers la lecture ricoeurienne de la cinquième des Méditations cartésiennes publiée dans À l’école de la phénoménologie. Lors de la donation du sens ego dans l’intersubjectivité, la constitution de la reconnaissance sur le plan de la perception se fait grâce aux distinctions entre corps (Körper et chair (Leib d’une part, et, d’autre part entre chair (Leib et corps propre (Leibkörper. L’analyse des textes sur "Le sentiment,” repris dans À l’école de la phénoménologie, et sur "La fragilité affective" dans L’homme faillible, propose une phénoménologie de la reconnaissance sur le plan de l’affection. Le désir est révélé par le "sentiment ontologique" comme la racine affective de l’intersubjectivité dont les modalités sont objectivées par les dimensions économique, politique et culturelle de l’espace social correspondantes aux requêtes affectives différenciées de la reconnaissance sociale telles que l’avoir, le pouvoir et le valoir.

  11. Las variantes genéticas asociadas con niveles de hemoglobina fetal señalan diversos orígenes étnicos en pacientes colombianos con anemia falciforme

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    Cristian Fong

    2015-09-01

    Full Text Available Introducción. La hemoglobina fetal es un importante factor modulador de la gravedad de la anemia falciforme, cuya expresión está muy condicionada por el factor genético. Los loci asociados con el incremento de la hemoglobina fetal pueden presentar frecuencias alélicas específicas para cada población. Objetivo. Investigar la presencia y el efecto de las variantes genéticas rs11886868, rs9399137, rs4895441 y rs7482144 asociadas con la persistencia de hemoglobina fetal, en 60 pacientes colombianos con anemia falciforme. Materiales y métodos. Se hizo la genotipificación de los polimorfismos de nucleótido simple (Single Nucleotide Polymorphisms, SNP mediante la técnica de polimorfismos de longitud de fragmentos de restricción (Restriction Fragment Length Polymorphisms, RFLP y el procedimiento TaqMan. La hemoglobina fetal (HbF se cuantificó utilizando la técnica de desnaturalización alcalina de la oxihemoglobina. Las frecuencias genotípicas se compararon con las reportadas en poblaciones de referencia global. Resultados. Se observaron variantes genéticas ya reportadas para aumento de HbF en los cuatro SNP. La asociación genética entre los SNP y el incremento de la HbF no alcanzó significancia estadística. La frecuencia de estos alelos reflejó la siguiente composición específica en esta muestra de pacientes colombianos: una gran prevalencia de rs7482144-‘A’, lo que indica que el origen de la mutación para la anemia falciforme es África occidental, y una gran frecuencia de rs4895441-‘G’ y rs11886868-‘C’, lo que denota la influencia significativa del origen genético amerindio. Conclusión. Los resultados evidenciaron que la población con anemia falciforme de Colombia no tiene un único origen genético, sino que existen dos (africano y amerindio. Esta situación genética única ofrece la oportunidad de llevar a cabo un estudio más amplio de estos loci a nivel molecular. Se espera que el estudio de pacientes

  12. Mutaciones del gen de la Hemocromatosis en donantes de sangre voluntarios y en pacientes con Porfiria cutánea tarda en Chile Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients

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    Carlos Wolff F

    2006-10-01

    Full Text Available La acumulación de hierro hepático asociada a mutaciones en el gen HFE de la hemocromatosis hereditaria (HH en los pacientes con porfiria cutánea tarda (PCT podría tener un papel en la etiología y en la expresión clínica de esta enfermedad. Se estudió la frecuencia de las mutaciones H63D y C282Y en un grupo de pacientes con PCT y se la comparó con la observada en un grupo de donantes voluntarios de sangre. Los pacientes con PCT fueron catalogados como portadores de la forma hereditaria o adquirida de la enfermedad, según presentaran o no mutaciones en el gen uroporfirinógeno decarboxilasa (UROD. El 50% de los pacientes con PCT eran portadores de la forma genética de la enfermedad, porcentaje significativamente mayor que lo informado en otras series. El 23% de los donantes voluntarios de sangre eran portadores de la mutación H63D y 2.4% lo era de la mutación C282Y. Frecuencias similares a lo encontrado por otros autores en población chilena de etnia blanca, en población argentina y española, pero significativamente más alta que lo encontrado en estudios en población aborigen araucana. Esto tiene, probablemente, relación con el predominio de ascendencia española en la población blanca chilena. La frecuencia de mutación en el gen HFE en pacientes con PCT no fue significativamente diferente que la observada en donantes voluntarios de sangre. Tampoco hubo diferencias significativas en la frecuencia de estas mutaciones entre los casos con PCT adquirida respecto de aquellos en que ésta era de origen genético. Los resultados obtenidos no permiten afirmar que exista asociación entre la PCT y la condición de portador de mutaciones del gen HFE de la hemocromatosis hereditaria.In patients with porphyria cutanea tarda (PCT, hepatic iron accumulation associated to hereditary hemochromatosis (HH could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were

  13. HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

    DEFF Research Database (Denmark)

    Koefoed, P; Dalhoff, K; Dissing, J

    2002-01-01

    Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution...... of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13...... in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection...

  14. HFE gene mutations and iron status of Brazilian blood donors.

    Science.gov (United States)

    Santos, P C J L; Cançado, R D; Terada, C T; Rostelato, S; Gonzales, I; Hirata, R D C; Hirata, M H; Chiattone, C S; Guerra-Shinohara, E M

    2010-01-01

    Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  15. HFE gene mutations and iron status of Brazilian blood donors

    Directory of Open Access Journals (Sweden)

    P.C.J.L. Santos

    2010-01-01

    Full Text Available Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542 were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018 and a 83.65% decrease (P = 0.007 in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001 and the HFE 63HD plus DD genotype (55.84%, P = 0.021. In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

  16. HJV and HFE Play Distinct Roles in Regulating Hepcidin.

    Science.gov (United States)

    Wu, Qian; Wang, Hao; An, Peng; Tao, Yunlong; Deng, Jiali; Zhang, Zhuzhen; Shen, Yuanyuan; Chen, Caiyong; Min, Junxia; Wang, Fudi

    2015-05-20

    Hereditary hemochromatosis (HH) is an iron overload disease that is caused by mutations in HFE, HJV, and several other genes. However, whether HFE-HH and HJV-HH share a common pathway via hepcidin regulation is currently unclear. Recently, some HH patients have been reported to carry concurrent mutations in both the HFE and HJV genes. To dissect the roles and molecular mechanisms of HFE and/or HJV in the pathogenesis of HH, we studied Hfe(-/-), Hjv(-/-), and Hfe(-/-)Hjv(-/-) double-knockout mouse models. Hfe(-/-)Hjv(-/-) mice developed iron overload in multiple organs at levels comparable to Hjv(-/-) mice. After an acute delivery of iron, the expression of hepcidin (i.e., Hamp1 mRNA) was increased in the livers of wild-type and Hfe(-/-) mice, but not in either Hjv(-/-) or Hfe(-/-)Hjv(-/-) mice. Furthermore, iron-induced phosphorylation of Smad1/5/8 was not detected in the livers of Hjv(-/-) or Hfe(-/-)Hjv(-/-) mice. We generated and phenotypically characterized Hfe(-/-)Hjv(-/-) double-knockout mice. In addition, because they faithfully phenocopy clinical HH patients, these mouse models are an invaluable tool for mechanistically dissecting how HFE and HJV regulate hepcidin expression. Based on our results, we conclude that HFE may depend on HJV for transferrin-dependent hepcidin regulation. The presence of residual hepcidin in the absence of HFE suggests either the presence of an unknown regulator (e.g., TFR2) that is synergistic with HJV or that HJV is sufficient to maintain basal levels of hepcidin.

  17. HFE genotype affects exosome phenotype in cancer.

    Science.gov (United States)

    Mrowczynski, Oliver D; Madhankumar, A B; Slagle-Webb, Becky; Lee, Sang Y; Zacharia, Brad E; Connor, James R

    2017-08-01

    Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Exosomes have been demonstrated to contribute to the oncogenic effect on the surrounding tumor environment and also mediate resistance to therapy. The effect of genotype on exosomal phenotype has not yet been explored. We interrogated exosomes from human neuroblastoma cells that express wild-type or mutant forms of the HFE gene. HFE, one of the most common autosomal recessive polymorphisms in the Caucasian population, originally associated with hemochromatosis, has also been associated with increased tumor burden, therapeutic resistance boost, and negative impact on patient survival. Herein, we demonstrate that changes in genotype cause major differences in the molecular and functional properties of exosomes; specifically, HFE mutant derived exosomes have increased expression of proteins relating to invasion, angiogenesis, and cancer therapeutic resistance. HFE mutant derived exosomes were also shown to transfer this cargo to recipient cells and cause an increased oncogenic functionality in those recipient cells. Copyright © 2017. Published by Elsevier B.V.

  18. A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.

    Science.gov (United States)

    Padula, Maria Carmela; Martelli, Giuseppe; Larocca, Marilena; Rossano, Rocco; Olivieri, Attilio

    2014-09-01

    HFE-hemochromatosis (HH) is an autosomal disease characterized by excessive iron absorption. Homozygotes for H63D variant, and still less H63D heterozygotes, generally do not express HH phenotype. The data collected in our previous study in the province of Matera (Basilicata, Italy) underlined that some H63D carriers showed altered iron metabolism, without additional factors. In this study, we selected a cohort of 10/22 H63D carriers with severe biochemical iron overload (BIO). Additional analysis was performed for studying HFE exons, exon-intron boundaries, and untranslated regions (UTRs) by performing DNA extraction, PCR amplification and sequencing. The results showed a novel substitution (NM_000410.3:c.847C>T) in a patient exon 4 (GenBankJQ478433); it introduces a premature stop-codon (PTC). RNA extraction and reverse-transcription were also performed. Quantitative real-time PCR was carried out for verifying if our aberrant mRNA is targeted for nonsense-mediated mRNA decay (NMD); we observed that patient HFE mRNA was expressed much less than calibrator, suggesting that the mutated HFE protein cannot play its role in iron metabolism regulation, resulting in proband BIO. Our finding is the first evidence of a variation responsible for a PTC in iron cycle genes. The genotype-phenotype correlation observed in our cases could be related to the additional mutation. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Liquid density of HFE-7200 and HFE-7500 from T = (283 to 363) K at pressures up to 100 MPa

    International Nuclear Information System (INIS)

    Fang, Dan; Li, Ying; Meng, Xianyang; Wu, Jiangtao

    2014-01-01

    Highlights: • Liquid densities are reported for HFE-7200 and HFE-7500 at temperatures from (283 to 363) K, pressures up to 100 MPa. • The expanded uncertainty (k = 2) of density measurement for HFE-7200 and HFE-7500 were 0.04% and 0.03%, respectively. • Modified Tait equations were correlated with the experimental data. • The isobaric thermal expansivity and isothermal compressibility of HFE-7200 and HFE-7500 were calculated. -- Abstract: The liquid densities of HFE-7200 (1-ethoxy-1,1,2,2,3,3,4,4,4-nonafluorobutane, CAS Registry Number: 163702-05-4) and HFE-7500 (3-ethoxyperfluoro(2-methylhexane), CAS Registry Number: 297730-93-9) have been measured over the temperature range from (283 to 363) K and pressures up to 100 MPa by using a high pressure vibrating-tube densimeter. R134a has been used as a reference fluid to validate the densimeter. The uncertainty of each obtained datum was estimated, and the maximum expanded uncertainty with a level of confidence of 0.95 (k = 2) of density measurement for HFE-7200 and HFE-7500 were 0.04% and 0.03%, respectively. The measured liquid densities were correlated with the modified Tait equation and the maximum deviation is less than 0.03%. The isothermal compressibility and isobaric thermal expansivity were also calculated

  20. HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE

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    Luís COSTA-MATOS

    2013-03-01

    Full Text Available Context Alcoholic liver disease (ALD is generally associated with iron overload, which may contribute to its pathogenesis, through increased oxidative stress and cellular damage. There are conflicting reports in literature about hemochromatosis (HFE gene mutations and the severity of liver disease in alcoholic patients. Objectives To compare the prevalence of mutations in the hemochromatosis (HFE gene between patients with ALD and healthy controls; to assess the relation of HFE mutations with liver iron stores and liver disease severity. Methods Liver biopsy specimens were obtained from 63 ALD patients (during routine treatment and 52 healthy controls (during elective cholecystectomy. All individuals underwent routine liver function tests and HFE genotyping (to detect wild-type sequences and C282Y, H63D, S65C, E168Q, E168X, V59M, H63H, P160delC, Q127H, Q283P, V53M and W164X mutations. Associations between HFE mutations and risk of excessive liver iron stores, abnormal serum ferritin, liver fibrosis, or necroinflammatory activity were assessed by multivariate logistic regression analysis. Results ALD patients had significantly higher serum ferritin and transferrin saturation than controls (both P Contexto A doença hepática alcoólica (DHA está geralmente associada à sobrecarga de ferro, que pode contribuir para a sua patogênese, através do aumento do estresse oxidativo e dano celular. As descrições existentes na literatura sobre a associação entre mutações HFE e a gravidade da DHA nem sempre são concordantes. Objetivos Comparar a prevalência de mutações HFE entre um grupo de pacientes com DHA e uma população de controle. Avaliar a relação entre mutações HFE e os depósitos de ferro hepático. Avaliar se a presença dessas mutações está associada com a gravidade da DHA. Métodos Compararam-se 63 pacientes com DHA que efetuaram biopsia hepática com 52 controles saudáveis. A genotipagem HFE (wild type, C282Y, H63D, S65C, E

  1. Impactos de se ignorarem os efeitos genéticos não-aditivos de dominância na avaliação genética animal Impacts of ignoring the non-additive genetic effects of dominance on animal genetic evaluation

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    Elizângela Emídio Cunha

    2009-12-01

    Full Text Available Objetivou-se com este estudo avaliar os impactos de se ignorarem os efeitos de dominância sobre a estimação de parâmetros genéticos e a predição de valores genéticos pelo método da máxima verossimilhança restrita sob modelo animal aditivo empregando-se o MTDFREML. Para a mesma arquitetura genômica, foram simulados dois modelos de ação gênica: um deles incluiu apenas efeitos aditivos dos genes e o outro, efeitos aditivos e dominância completa e positiva para 100% dos locos. Sob cada modelo genético, foram geradas três populações-base correspondentes às características com herdabilidades de 0,15 (baixa, 0,30 (média e 0,60 (alta. A partir das populações-base, foram geradas as populações iniciais, que, submetidas a seleção e a acasalamentos ao acaso, durante seis gerações consecutivas e discretas, resultaram cada uma em 18.000 indivíduos com registro. As estimativas dos componentes de variância e herdabilidade obtidas no modelo com ação gênica aditiva foram semelhantes aos seus valores reais para todas as características, ao passo que, sob ação gênica de dominância, todos os componentes foram superestimados, principalmente a variância genética aditiva. A variância de dominância não-estimada pelo modelo animal adotado foi redistribuída entre os componentes genético aditivo e residual estimados. Houve perda na acurácia da avaliação genética sob o modelo genético com dominância e essa perda foi traduzida por correlações mais baixas entre os valores genéticos verdadeiros e preditos dos animais. Há necessidade de novos estudos, já que os genomas simulados podem não corresponder aos sistemas biológicos verdadeiros.The objective of this study was to evaluate impacts of ignoring the dominance effects on the estimation of genetic parameters and prediction of genetic values by the restricted maximum likelihood method, under the additive animal model, using MTDFREML. Two gene action models were

  2. HFE gene mutations in coronary atherothrombotic disease

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    Calado R.T.

    2000-01-01

    Full Text Available Although iron can catalyze the production of free radicals involved in LDL lipid peroxidation, the contribution of iron overload to atherosclerosis remains controversial. The description of two mutations in the HFE gene (Cys282Tyr and His63Asp related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis. We investigated the prevalence of HFE mutations in 160 survivors of myocardial infarction with angiographically demonstrated severe coronary atherosclerotic disease, and in 160 age-, gender- and race-matched healthy control subjects. PCR amplification of genomic DNA followed by RsaI and BclI restriction enzyme digestion was used to determine the genotypes. The frequency of the mutant Cys282Tyr allele was identical among patients and controls (0.022; carrier frequency, 4.4%, whereas the mutant His63Asp allele had a frequency of 0.143 (carrier frequency, 27.5% in controls and of 0.134 (carrier frequency, 24.5% in patients. Compound heterozygotes were found in 2 of 160 (1.2% controls and in 1 of 160 (0.6% patients. The finding of a similar prevalence of Cys282Tyr and His63Asp mutations in the HFE gene among controls and patients with coronary atherothrombotic disease, indirectly questions the possibility of an association between hereditary hemochromatosis and atherosclerosis.

  3. La ruta de señalización del acido salicílico juega un papel importante en la resistencia en tomate a Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae) mediada por el gen Mi-1

    OpenAIRE

    Muñiz, Mariano; Rodriguez, C.I.; Kaloshian, I.; Nombela, Gloria

    2009-01-01

    Es bien conocido que la resistencia en tomate a Bemisia tabaci (Gennadius), a Macrosiphum euphorbiae (Thomas) y a tres especies de nematodos formadores de nódulos (Meloidogyne spp.) está mediada por el gen Mi-1. Asimismo, está documentado que el ácido salicílico interviene en los mecanismos de resistencia frente a nematodos formadores de nódulos y áfidos. Recientemente se ha descrito que, en Arabidopsis, el biotipo B de B. tabaci induce defensas activadas por este ácido e inhibe las del ácido...

  4. ENVIRONMENTAL RESEARCH BRIEF: THERMOPHYSICAL PROPERTIES OF HFE-125

    Science.gov (United States)

    Thermophysical properties of HFE-125 (pentafluorodimethylether) suggest that it could serve as an alternative non-ozone depleting refrigerant for certain low temperature applications. This Brief presents the thermophysical properties of HFE-125 (Tables 1-4) which have been obtai...

  5. Remarques sur la genèse et les utilisations de la notion de « baroque » en Allemagne

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    Hartmut Stenzel

    2012-06-01

    Full Text Available La contribution retrace l’évolution des significations attribuées à la notion de « baroque » dans le domaine de la recherche allemande depuis ses premières utilisations esthétiques dans l’histoire de l’art au xixe siècle chez Jacob Burckhardt et Heinrich Wölfflin. De par cette genèse, elle a surtout la fonction de rendre compte de la mise en question voire de la dissolution d’un idéal esthétique classiciste, tant dans la confrontation Renaissance-« baroque » qu’en référence à l’esthétique décadente de la fin du siècle. Dans sa transposition à l’histoire littéraire allemande du xviie siècle qui s’initie depuis le début du siècle et sera consacrée rapidement dans les années 1920 la notion de « baroque » gardera, malgré des tentatives de l’intégrer de façon plus harmonieuse dans l’évolution de la littérature nationale, ses connotations anti-classicistes en désignant une esthétique correspondant à la crise qui est omniprésente dans cette période. Le représentant le plus connu de cet usage de la notion de « baroque » est Walter Benjamin qui, dans sa thèse sur les tragédies « baroques », oppose classicisme et « baroque » en employant des termes comme « fragment » et de ‘ruine’ afin de caractériser leur structure.Dans les années 1920 se développe en Allemagne aussi une extension comparatiste de la notion de « baroque », surtout en ce qui concerne la romanistique, où elle est appliqué à des périodes du xvie et surtout du xviie siècle de toutes les grandes littératures romanes. Fait significatif dans cet essor de la notion de « baroque » : tandis que ses usages comparatistes seront communément admis et développés dans les cas des littératures italienne et espagnole, ils avortent, malgré des tentatives dans ce sens, en ce qui concerne le xviie siècle français. Là, il faudra attendre les années 1970 pour que soit développé et syst

  6. ASSOCIATION OF HFE GENE MUTATION IN THALASSEMIA MAJOR PATIENTS

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    Amit Kumar Tiwari

    2016-11-01

    Full Text Available BACKGROUND Thalassemia major patients are dependent on frequent blood transfusion and consequently develop iron overload. HFE gene mutations (C282Y, H63D and S65C in hereditary haemochromatosis has been shown to be associated with iron overload. The study aims at finding the association of HFE gene mutations in β-thalassemia major patients. MATERIALS AND METHODS A descriptive observational pilot study was conducted including fifty diagnosed -thalassemia major cases. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS Only H63D mutation (out of three HFE gene mutations was detected in 8 out of 50 cases. Observed frequency of H63D mutation was 16%. While frequency of C282Y and S65C were 0% each. CONCLUSION The frequency of HFE mutation in -thalassemia major is not very common.

  7. Avaliação do desempenho zootécnico de genótipos de frangos de corte utilizando-se a análise de medidas repetidas Performance evaluation of broiler genotypes by repeated measures

    Directory of Open Access Journals (Sweden)

    Millor Fernandes do Rosário

    2005-12-01

    Full Text Available Objetivou-se avaliar genótipos de frangos de corte por meio do desempenho zootécnico utilizando-se medidas repetidas. Os tratamentos consistiram de quatro genótipos (A, B, C e D e dois sexos avaliados em seis idades (7, 14, 21, 28, 35 e 42 dias. As variáveis analisadas foram: consumo médio de alimento (CONS, peso vivo médio (PV e conversão alimentar (CA. O delineamento experimental foi em blocos incompletos desbalanceados, em esquema fatorial 4x2 nas parcelas experimentais, com seis medidas realizadas no decorrer do experimento. A análise estatística foi realizada por meio do procedimento MIXED do SAS®, sendo testadas cinco estruturas de variância e covariância do erro. As médias foram estimadas por quadrados mínimos e comparadas pelo teste Tukey-Kramer. Foram estimadas funções de resposta quadrática para CONS e CA e Gompertz para PV e seus respectivos coeficientes de determinação, pelo procedimento NLIN do SAS®. Detectaram-se efeitos de algumas interações triplas ou duplas para todas as variáveis. Verificaram-se diferenças significativas entre genótipos dentro de cada idade e sexo para CONS e PV e para CA entre genótipos e sexos, dentro de cada idade, apenas aos 42 e a partir dos 21 dias, respectivamente. Constatou-se que o genótipo D, apesar de apresentar maiores médias de CONS e PV, não mostrou menor CA, que foi verificada nos genótipos C e B. As funções de resposta estimadas explicaram adequadamente cada variável em função da idade, constatando-se que o CONS e PV dos machos do genótipo D foram maiores a partir dos 14 dias e dos 28 aos 42 dias, distinguindo este tratamento dos demais. A melhor CA foi verificada nos machos e no genótipo C. É possível avaliar o desempenho zootécnico de frangos de corte por medidas repetidas, sendo que os genótipos B e C apresentaram melhor desempenho zootécnico.The objetive of this study was to evaluate the performance of broiler genotypes using repeated measurements

  8. Variantes polimórficas Ala513Pro y Gly972Arg del gen IRS-1 no se asocian a la diabetes mellitus tipo 2 en un grupo de la población cubana The Ala513Pro and Gly972ARg polymorphous variants of IRS-1 gen are not associated with type diabetes mellitus in a group of the Cuban population

    Directory of Open Access Journals (Sweden)

    Luis Miguel Pérez

    2011-08-01

    Full Text Available Introducción: la diabetes mellitus tipo 2 es una enfermedad heterogénea y multifactorial, que está determinada por factores genéticos y no genéticos. El sustrato 1 del receptor de la insulina (IRS-1 cumple una función fundamental en la transmisión de la señal insulínica, por tanto sus variantes génicas constituyen blancos importantes en el estudio de la susceptibilidad genética a esta enfermedad en las diferentes poblaciones. Objetivo: explorar el papel de las variantes polimórficas Gly972Arg y Ala513Pro del gen IRS-1 en la susceptibilidad genética de la diabetes mellitus tipo 2 en un grupo de la población cubana. Métodos: se determinó la frecuencia de los polimorfismos Gly972Arg y Ala513Pro del IRS-1 en 499 ciudadanos cubanos, con un índice de masa corporal entre 22-30, con edades comprendidas entre los 40 y 70 años: de ellos 272 (54,5 % diabéticos y 227 (45,5 % no diabéticos. Resultados: la frecuencia del alelo Pro513 fue baja (1,2 % y similar para ambos grupos (1,1 % vs. 1,3 % para el grupo de diabéticos y el grupo control, respectivamente. La frecuencia del polimorfismo Gly972Arg fue de 16,2%, superior a la reportada para la mayoría de las poblaciones estudiadas. No se encontraron diferencias significativas en la frecuencia del alelo Arg972 entre el grupo de diabéticos y el grupo control (15,4 % vs. 17,3 %, ni cambios en los niveles de glucemia e insulinemia asociados a la presencia del alelo polimórfico Arg972. Conclusiones: en este grupo de sujetos de la población cubana, las variantes polimórficas Ala513Pro y Gly972Arg del gen IRS-1 no participan en la etiología de la diabetes mellitus tipo 2.Introduction: the type 2 diabetes mellitus is a heterogeneous and multifactor disease determined by genetic and no-genetic factors. The substrate 1 of insulin receptor (IRS-1 has a fundamental function in transmission of insulin signal, thus its genic variants are significant targets in study of genetic susceptibility to

  9. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

    Science.gov (United States)

    Bittencourt, Paulo Lisboa; Marin, Maria Lúcia Carnevale; Couto, Cláudia Alves; Cançado, Eduardo Luiz Rachid; Carrilho, Flair José; Goldberg, Anna Carla

    2009-01-01

    Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. Nineteen male subjects (median age 42 [range: 20-72] years) with HH were evaluated using the Haemochromatosis StripAssay A. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. In our cohort, nine (47%) patients were homozygous for the C282Y mutation, two (11%) were heterozygous for the H63D mutation, and one each (5%) was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

  10. Helicobacter pyloriinfeksiyonlu genç hastalarda tedavi seçenekleri; Standard üçlü veya bismuth bazlı dörtlü tedavi

    OpenAIRE

    SAVAŞ, Nurten

    2015-01-01

    Giriş ve Amaç: Helicobacter pylori dünyada tüm yaş gruplarında en sık görülen gastrik patojen olup bu patojenin eradikasyon oranları gün geçtikçe azalmaktadır. Bu çalışmanın amacı dispepsisi olan Helicobacter pylori pozitif genç hastalarda standard üçlü ve bizmut bazlı dörtlü tadavilerin başarı oranlarını belirlemek ve tedaviye cevapsızlık durumunda levofloksasin bazlı üçlü ve yine bizmut bazlı dörtlü ikinci basamak tedavilerinin başarı oranlarını saptamaktır. Gereç ve Yöntem: Otuz be...

  11. HFE gene mutations and Wilson's disease in Sardinia.

    Science.gov (United States)

    Sorbello, Orazio; Sini, Margherita; Civolani, Alberto; Demelia, Luigi

    2010-03-01

    Hypocaeruloplasminaemia can lead to tissue iron storage in Wilson's disease and the possibility of iron overload in long-term overtreated patients should be considered. The HFE gene encodes a protein that is intimately involved in intestinal iron absorption. The aim of this study was to determine the prevalence of the HFE gene mutation, its role in iron metabolism of Wilson's disease patients and the interplay of therapy in copper and iron homeostasis. The records of 32 patients with Wilson's disease were reviewed for iron and copper indices, HFE gene mutations and liver biopsy. Twenty-six patients were negative for HFE gene mutations and did not present significant alterations of iron metabolism. The HFE mutation was significantly associated with increased hepatic iron content (PHFE gene wild-type. The HFE gene mutations may be an addictional factor in iron overload in Wilson's disease. Our results showed that an adjustment of dosage of drugs could prevent further iron overload induced by overtreatment only in patients HFE wild-type. 2009. Published by Elsevier Ltd.

  12. HFE gene variants affect iron in the brain.

    Science.gov (United States)

    Nandar, Wint; Connor, James R

    2011-04-01

    Iron accumulation in the brain and increased oxidative stress are consistent observations in many neurodegenerative diseases. Thus, we have begun examination into gene mutations or allelic variants that could be associated with loss of iron homeostasis. One of the mechanisms leading to iron overload is a mutation in the HFE gene, which is involved in iron metabolism. The 2 most common HFE gene variants are C282Y (1.9%) and H63D (8.9%). The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs. The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention. At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. Therefore, the HFE gene variants are proposed to be genetic modifiers or a risk factor for neurodegenerative diseases by establishing an enabling milieu for pathogenic agents. This review will discuss the current knowledge of the association of the HFE gene variants with neurodegenerative diseases: amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and ischemic stroke. Importantly, the data herein also begin to dispel the long-held view that the brain is protected from iron accumulation associated with the HFE mutations.

  13. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

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    Paulo Lisboa Bittencourt

    2009-01-01

    Full Text Available BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2 and ferroportin 1 (SCL40A1. AIMS: To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. PATIENTS AND METHODS: Nineteen male subjects (median age 42 [range: 20-72] years with HH were evaluated using the Haemochromatosis StripAssay A®. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. RESULTS: In our cohort, nine (47% patients were homozygous for the C282Y mutation, two (11% were heterozygous for the H63D mutation, and one each (5% was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. CONCLUSIONS: One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

  14. PREDICTION OF THE SPECTROSCOPIC PARAMETERS OF NEW IRON COMPOUNDS: HYDRIDE OF IRON CYANIDE/ISOCYANIDE, HFeCN/HFeNC

    Energy Technology Data Exchange (ETDEWEB)

    Redondo, Pilar; Barrientos, Carmen; Largo, Antonio, E-mail: predondo@qf.uva.es [Departamento de Química Física y Química Inorgánica Facultad de Ciencias, Universidad de Valladolid Campus Miguel Delibes Paseo de Belén 7, E-47011, Valladolid (Spain)

    2016-09-01

    Iron is the most abundant transition metal in space. Its abundance is similar to that of magnesium, and until today only, FeO and FeCN have been detected. However, magnesium-bearing compounds such as MgCN, MgNC, and HMgNC are found in IRC+10216. It seems that the hydrides of iron cyanide/isocyanide could be good candidates to be present in space. In the present work we carried out a characterization of the different minima on the quintet and triplet [C, Fe, H, N] potential energy surfaces, employing several theoretical approaches. The most stable isomers are predicted to be hydride of iron cyanide HFeCN, and isocyanide HFeNC, in their {sup 5}Δ states. Both isomers are found to be quasi-isoenergetics. The HFeNC isomer is predicted to lie about 0.5 kcal/mol below HFeCN. The barrier for the interconversion process is estimated to be around 6.0 kcal/mol, making this process unfeasible under low temperature conditions, such as those in the interstellar medium. Therefore, both HFeCN and HFeNC could be candidates for their detection. We report geometrical parameters, vibrational frequencies, and rotational constants that could help with their experimental characterization.

  15. PREDICTION OF THE SPECTROSCOPIC PARAMETERS OF NEW IRON COMPOUNDS: HYDRIDE OF IRON CYANIDE/ISOCYANIDE, HFeCN/HFeNC

    International Nuclear Information System (INIS)

    Redondo, Pilar; Barrientos, Carmen; Largo, Antonio

    2016-01-01

    Iron is the most abundant transition metal in space. Its abundance is similar to that of magnesium, and until today only, FeO and FeCN have been detected. However, magnesium-bearing compounds such as MgCN, MgNC, and HMgNC are found in IRC+10216. It seems that the hydrides of iron cyanide/isocyanide could be good candidates to be present in space. In the present work we carried out a characterization of the different minima on the quintet and triplet [C, Fe, H, N] potential energy surfaces, employing several theoretical approaches. The most stable isomers are predicted to be hydride of iron cyanide HFeCN, and isocyanide HFeNC, in their 5 Δ states. Both isomers are found to be quasi-isoenergetics. The HFeNC isomer is predicted to lie about 0.5 kcal/mol below HFeCN. The barrier for the interconversion process is estimated to be around 6.0 kcal/mol, making this process unfeasible under low temperature conditions, such as those in the interstellar medium. Therefore, both HFeCN and HFeNC could be candidates for their detection. We report geometrical parameters, vibrational frequencies, and rotational constants that could help with their experimental characterization.

  16. White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.

    Science.gov (United States)

    Barton, James C; Barton, J Clayborn; Acton, Ronald T

    2017-03-01

    The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p.C282Y homozygotes (45.3% men) and 221 wild-type homozygotes (40.3% men). Mean WBC of men and women and between HFE genotypes were similar. Mean lymphocytes were higher in male p.C282Y homozygotes: 1.6×10 9 /L [95% confidence interval: 1.5,1.7] vs. 1.4 [1.3,1.5], p=0.0002. Mean lymphocytes and basophils were higher in female p.C282Y homozygotes: 1.6 [1.5,1.7] vs. 1.4 [1.3,1.5], p=0.0002; and 0.065 [0.059,0.071] vs. 0.052 [0.051,0.054], p=0.0001, respectively. Transferrin saturation was associated with neutrophils (negative; p=0.0163). Age was associated with lymphocytes (negative; p=0.0003) and monocytes (positive; p<0.0001). Regressions on lymphocytes and basophils revealed positive associations with p.C282Y homozygosity (p=0.0043 and 0.0003, respectively). There were significant positive associations of neutrophils, lymphocytes, monocytes, and eosinophils. We conclude that HFE p.C282Y homozygosity is significantly associated with lymphocyte and basophil counts. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. O desafio da malária: o caso brasileiro e o que se pode esperar dos progressos da era genômica The malaria challenge: the Brazilian case and what can be expected from progress in genomics

    Directory of Open Access Journals (Sweden)

    Luiz Hildebrando Pereira da Silva

    2002-01-01

    Full Text Available A área endêmica de malária no Brasil se estende atualmente à totalidade da região amazônica, com cerca de 500 mil casos anuais, em geral com situações de baixa e média endemicidade mas ainda apresentando focos de alto risco. Fatores demográficos e socioeconômicos são dominantes nos desafios que enfrentam os Serviços de Saúde Pública no controle da malária. No presente artigo são discutidos fatores determinantes da instabilidade da situação endêmica bem como a necessidade de ações permanentes de vigilância e de intervenção dos Serviços de Saúde para que se evitem surtos epidêmicos e alastramento das áreas endêmicas. No artigo, em seguida, apresenta-se uma síntese de progressos recentes nos estudos da era genômica e pós-genômica sobre o parasita, o vetor e o hospedeiro humano que podem favorecer, no futuro, o desenvolvimento e a melhoria dos métodos de controle da malária.Malaria endemic areas in Brazil are restricted to the Amazon Region, with an average of 500 thousand new cases every year. The situation can be defined as unstable hipoendemic with, however, foci of high endemicity. Demographic and socio economic factors are main determinants in the malaria challenge for the Public Health System. In the present paper, biological and social factors responsible for the unstable endemic situation are discussed. The need for a permanent surveillance and intervention of Public Health Services are stressed to avoid the occurrence of local epidemics and spreading of endemic areas. In the paper, are also summarised recent lines of research developed in the post genomic era in the studies of parasite, vector and human molecular genetics that would favour the development, in the future, of new tools and procedures for malaria control

  18. Meta-analyses of HFE variants in coronary heart disease.

    Science.gov (United States)

    Lian, Jiangfang; Xu, Limin; Huang, Yi; Le, Yanping; Jiang, Danjie; Yang, Xi; Xu, Weifeng; Huang, Xiaoyan; Dong, Changzheng; Ye, Meng; Zhou, Jianqing; Duan, Shiwei

    2013-09-15

    HFE gene variants can cause hereditary hemochromatosis (HH) that often comes along with an increased risk of coronary heart disease (CHD). The goal of our study is to assess the contribution of four HFE gene variants to the risk of CHD. We conducted four meta-analyses of the studies examining the association between four HFE gene variants and the risk of CHD. A systematic search was conducted using MEDLINE, EMBASE, Web of Science and China National Knowledge Infrastructure (CNKI), Wanfang Chinese Periodical. Meta-analyses showed that HFE rs1799945-G allele was associated with a 6% increased risk of CHD (P=0.02, odds ratio (OR)=1.06, 95% confidence interval (CI)=1.01-1.11). However, no association between the other three HFE gene variants (rs1800562, rs1800730, and rs9366637) and CHD risk was observed by the meta-analyses (all P values>0.05). In addition, the results of our case-control study indicated that rs1800562 and rs1800730 were monomorphic, and that rs1799945 and rs9366637 were not associated with CHD in Han Chinese. Our meta-analysis suggested that a significant association existed between rs1799945 mutation and CHD, although this mutation was rare in Han Chinese. Copyright © 2013 Elsevier B.V. All rights reserved.

  19. Un Code Pénal Pour l'Unité Italienne: le code Zanardelli (1889 – La Genèse, le Débat, le Projet Juridique

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    Luigi Lacche

    2014-06-01

    Full Text Available http://dx.doi.org/10.5007/2177-7055.2013v35n68p37O presente artigo analisa o processo de formação do primeiro código penal italiano posterior à unificação política do país, o chamado Código Zanardelli de 1889. Uma análise que contextualiza a codificação não somente na cronologia dos fatos políticos, mas também, por exemplo, na ciência do direito penal italiana do século XIX. Uma ciência do direito penal – conhecida sob o nome de “escola clássica” – caracterizada por ter levantado algumas bandeiras como a abolição da pena de morte, um dos aspectos apontados, inclusive, como fator que dificultou processo de unificação legislativa no campo penal. Por fim, a título de epílogo, são abordadas as críticas da chamada “escola positiva” que se opunha a algumas tendências liberais do recém-promulgado código. Um liberalismo penal, porém, que é visto em sua ambiguidade: no interior de um código liberal, por exemplo, dispositivos rígidos para combater o dissenso político, e uma normativa extra codicem que mitigava algumas garantias consagradas no código.

  20. De la genèse photographique à la photographie génétique From photographic genesis into photography genetics

    Directory of Open Access Journals (Sweden)

    Julie Noirot

    2011-10-01

    Full Text Available La photographie ne se réduit pas à l'acte ponctuel de la prise de vue. Souvent négligés dans l'analyse des œuvres photographiques, le travail de sélection des clichés et celui d'interprétation au moment du développement constituent des opérations esthétiques et techniques très importantes, servies par l’utilisation de la planche-contact. Tous les photographes n’accordent pas la même attention à chacune de ces étapes. Si certains privilégient « l' instant décisif » de la saisie, d'autres au contraire envisagent la planche-contact comme la clef de l'ensemble de leur production. C'est sur cette épreuve singulière de la planche-contactque nous souhaitons axer notre article. Outil d'intérêt documentaire et génétique, la planche-contact constitue un corpus original et pertinent pour appréhender la question de la temporalité dans le processus de fabrication des images photographiques. À partir d'une étude historique et esthétique des planches-contacts, telles que les ont utilisées deux photographes associés, Véra Cardot et Pierre Joly, spécialisés dans la reproduction photographique d'œuvres d'art contemporaines, nous verrons dans quelle mesure celles-ci redoublent tout en la questionnant la notion de temporalité dans la création.Photography can not be reduced to the one-off act of shooting. Although they are often neglected in the analysis of photography, the contact sheets and the lab work are very important. Photographers as a whole don't allow the same attention to each of these steps. While some prefer the "decisive moment" of the capture, others consider the contact prints as the cornerstones of their work. This study focuses on the historical and aesthetical analysis of the contact sheets with an emphasis on Vera Cardot and Pierre Joly, French photographers who specialized in contemporary art photography. The contact sheet, as a tool of documentation, offers an original way to understand the process of

  1. GenLab, Laboratorio Virtual de Genética

    Directory of Open Access Journals (Sweden)

    Fidel Ramírez

    2000-07-01

    Full Text Available GenLab es el nombre que tiene el software diseñado por nosotros, en el cual se modela el proceso meiótico y la fecundación en organismos diploides. El objetivo de esta aplicación es ilustrar el resultado de un cruce determinado, tratando de ser lo más ajustados a la realidad. La modelación de la reproducción sexual se realiza internamente y el GenLab se limita a presentar los resultados según el número de descendencia seleccionado para un cruce específico, esto significa que se puede escoger una gran cantidad de características para los parentales y se puede estudiar la frecuencia de estos en la descendencia. El modelo cuenta con base de datos donde están almacenados algunos de los locus de Drosophila melanogaster junto con su ubicación en centimorgans 1. EI propósito de este modelo es servir como herramienta pedagógica  y didáctica tanto en universidades como en colegios, facilitando el aprendizaje de algunos principios básicos de la genética, por lo cual puede ser usado si se cuenta con una conexión a Internet y un navegador visitando http://biologia.unal.edu.co/fidel.

  2. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

    Science.gov (United States)

    Aguilar-Martinez, Patricia; Grandchamp, Bernard; Cunat, Séverine; Cadet, Estelle; Blanc, François; Nourrit, Marlène; Lassoued, Kaiss; Schved, Jean-François; Rochette, Jacques

    2011-04-01

    Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6. We performed molecular investigation of the genes implicated in hereditary hemochromatosis in six patients who presented with iron overload but were simple heterozygotes for the HFE C282Y mutation at first genetic testing. Functional impairment of new variants was deduced from computational methods including molecular modeling studies. We identified four rare HFE mutant alleles, three of which have not been previously described. One mutation is a 13-nucleotide deletion in exon 6 (c.1022_1034del13, p.His341_Ala345 > LeufsX119), which is predicted to lead to an elongated and unstable protein. The second one is a substitution of the last nucleotide of exon 2 (c.340G > A, p.Glu114Lys) which modifies the relative solvent accessibility in a loop interface. The third mutation, p.Arg67Cys, also lies in exon 2 and introduces a destabilization of the secondary structure within a loop of the α1 domain. We also found the previously reported c.548T > C (p.Leu183Pro) missense mutation in exon 3. No other known iron genes were mutated. We present an algorithm at the clinical and genetic levels for identifying patients deserving further investigation. Conclusions Our results suggest that additional mutations in HFE may have a clinical impact in C282Y carriers. In conjunction with results from previously described cases we conclude that an elevated transferrin saturation level and elevated hepatic iron index should indicate the utility of searching for further HFE mutations in C282Y heterozygotes prior to other iron gene studies.

  3. Loss of hfe function reverses impaired recognition memory caused by olfactory manganese exposure in mice.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2015-03-01

    Excessive manganese (Mn) in the brain promotes a variety of abnormal behaviors, including memory deficits, decreased motor skills and psychotic behavior resembling Parkinson's disease. Hereditary hemochromatosis (HH) is a prevalent genetic iron overload disorder worldwide. Dysfunction in HFE gene is the major cause of HH. Our previous study has demonstrated that olfactory Mn uptake is altered by HFE deficiency, suggesting that loss of HFE function could alter manganese-associated neurotoxicity. To test this hypothesis, Hfe-knockout (Hfe (-/-)) and wild-type (Hfe (+/+)) mice mice were intranasally-instilled with manganese chloride (MnCl2 5 mg/kg) or water daily for 3 weeks and examined for memory function. Olfactory Mn diminished both short-term recognition and spatial memory in Hfe (+/+) mice, as examined by novel object recognition task and Barnes maze test, respectively. Interestingly, Hfe (-/-) mice did not show impaired recognition memory caused by Mn exposure, suggesting a potential protective effect of Hfe deficiency against Mn-induced memory deficits. Since many of the neurotoxic effects of manganese are thought to result from increased oxidative stress, we quantified activities of anti-oxidant enzymes in the prefrontal cortex (PFC). Mn instillation decreased superoxide dismutase 1 (SOD1) activity in Hfe (+/+) mice, but not in Hfe (-/-) mice. In addition, Hfe deficiency up-regulated SOD1 and glutathione peroxidase activities. These results suggest a beneficial role of Hfe deficiency in attenuating Mn-induced oxidative stress in the PFC. Furthermore, Mn exposure reduced nicotinic acetylcholine receptor levels in the PFC, indicating that blunted acetylcholine signaling could contribute to impaired memory associated with intranasal manganese. Together, our model suggests that disrupted cholinergic system in the brain is involved in airborne Mn-induced memory deficits and loss of HFE function could in part prevent memory loss via a potential up-regulation of

  4. Intragenic haplotype analysis of common HFE mutations in the ...

    Indian Academy of Sciences (India)

    mutation <100 generations ago in the Celtic populations of mainland Europe, with a ... 0.9–5.8%, evidencing regional differences in distribution across the ..... and H63D alleles in the HFE gene among various Jewish ethnic groups in Israel: a ...

  5. Algoritmos genéticos

    Directory of Open Access Journals (Sweden)

    José Jesús Martínez Páez

    1998-10-01

    Full Text Available Esta técnica se basa en el concepto de evolución a través de selección de los mejores individuos, y de los operadores genéticos de selección, reproducción y mutación. Se trata entonces, de definir un espacio de soluciones para el problema que se quiere solucionar, en una cadena de bits. A esto se le conoce como la codificación del cromosoma, donde cada bit, denominado gen  tiene cierto significado especial. Inicialmente el algoritmo genera al azar muchas de estas cadenas o seres, es decir, una población, que luego confronta can un ambiente, que es el problema solucionar o función que se quiere optimizar. De esta confrontación  o evaluación a que se somete cada ser. Se obtiene información sobre cómo se comporto cada uno. A través de métodos aleatorios, pero con probabilidad de selección proporcional a su comportamiento, es decir, a mejor comportamiento mayor probabilidad, se selecciona una nueva población de seres supuestamente mejores que la generación anterior.

  6. Hemochromatosis (HFE gene mutations in Brazilian chronic hemodialysis patients

    Directory of Open Access Journals (Sweden)

    F.V. Perícole

    2005-09-01

    Full Text Available Patients with chronic renal insufficiency (CRI have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron. A C282Y heterozygous mutation was found in 7/201 (3.4% and H63D homozygous and heterozygous mutation were found in 2/201 (1.0% and 46/201 (22.9%, respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08. From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10. Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

  7. The role of HFE genotype in macrophage phenotype.

    Science.gov (United States)

    Nixon, Anne M; Neely, Elizabeth; Simpson, Ian A; Connor, James R

    2018-02-01

    Iron regulation is essential for cellular energy production. Loss of cellular iron homeostasis has critical implications for both normal function and disease progression. The H63D variant of the HFE gene is the most common gene variant in Caucasians. The resulting mutant protein alters cellular iron homeostasis and is associated with a number of neurological diseases and cancer. In the brain, microglial and infiltrating macrophages are critical to maintaining iron homeostasis and modulating inflammation associated with the pathogenic process in multiple diseases. This study addresses whether HFE genotype affects macrophage function and the implications of these findings for disease processes. Bone marrow macrophages were isolated from wildtype and H67D HFE knock-in mice. The H67D gene variant in mice is the human equivalent of the H63D variant. Upon differentiation, the macrophages were used to analyze iron regulatory proteins, cellular iron release, migration, phagocytosis, and cytokine expression. The results of this study demonstrate that the H67D HFE genotype significantly impacts a number of critical macrophage functions. Specifically, fundamental activities such as proliferation in response to iron exposure, L-ferritin expression in response to iron loading, secretion of BMP6 and cytokines, and migration and phagocytic activity were all found to be impacted by genotype. Furthermore, we demonstrated that exposure to apo-Tf (iron-poor transferrin) can increase the release of iron from macrophages. In normal conditions, 70% of circulating transferrin is unsaturated. Therefore, the ability of apo-Tf to induce iron release could be a major regulatory mechanism for iron release from macrophages. These studies demonstrate that the HFE genotype impacts fundamental components of macrophage phenotype that could alter their role in degenerative and reparative processes in neurodegenerative disorders.

  8. Porfiria cutánea tarda: asociación con mutaciones HFE, hepatitis virales, alcohol y otros factores de riesgo en Guipúzcoa, País Vasco Porphyria cutanea tarda: An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain

    Directory of Open Access Journals (Sweden)

    A. Castiella

    2008-12-01

    Full Text Available Objetivo: estudiar la frecuencia de las mutaciones en el gen HFE (C282Y, H63D, S65C en un grupo de 54 pacientes con porfiria cutánea tarda (PCT y en un grupo de controles sanos (donantes de sangre en Guipúzcoa. También analizar su relación con los virus de la hepatitis B y C (VHB, VHC, alcohol y otros factores de riesgo reconocidos. Métodos: el análisis de las mutaciones se hizo mediante PCR. Se compararon las frecuencias alélicas y genotípicas. Se determinaron la probabilidad y el test de Chi cuadrado. Resultados: no encontramos asociación entre C282Y y PCT (5,76 vs. 5% controles. Se observó una alta frecuencia alélica en la mutación H63D en PCT (34,25%, pero sin ser estadísticamente significativa (controles 29,31%, debido a la alta prevalencia de esta mutación en la población vasca. La mutación S65C fue menor en PCT que en controles. Encontramos una idéntica presencia de H63D en heterocigosis en ambos grupos (38,8 vs. 38,8%. La asociación con el VHC se objetivó en el 35,18% de los pacientes y la infección por VHB en el 7,4%. Un 55,55% de los pacientes tenía un hábito alcohólico de más de 60 g etanol día. Todos eran negativos para el virus de la inmunodeficiencia humana (VIH y 1 de las 5 mujeres con PCT tomaba estrógenos. Conclusión: las mutaciones C282Y y H63D no tienen un papel relevante en los pacientes con PCT en Guipúzcoa. Los factores externos (consumo importante de alcohol y VHC parecen jugar un papel fundamental en el desarrollo de la PCT en nuestra población.Aim: to study the frequency of HFE gene mutations (C282Y, H63D, S65C in a group of 54 sporadic PCT patients and in a group of healthy controls (blood donors from Guipúzcoa, Spain. We studied the association of PCT with HCV, HBV, alcohol abuse, and other established risk factors. Methods: the analysis of mutations was made by PCR. Allelic and genotypic frequencies were compared. Probability was determined and a Chi-squared test was performed. Results

  9. Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

    Science.gov (United States)

    McDonald, Cameron J; Wallace, Daniel F; Crawford, Darrell H G; Subramaniam, V Nathan

    2013-07-01

    Hereditary hemochromatosis (HH) is a widely recognized and well-studied condition in European populations. This is largely due to the high prevalence of the C282Y mutation of HFE. Although less common than in Europe, HH cases have been reported in the Asia-Pacific region because of mutations in both HFE and non-HFE genes. Mutations in all of the currently known genes implicated in non-HFE HH (hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin) have been reported in patients from the Asia-Pacific region. This review discusses the molecular basis of HH and the genes and mutations known to cause non-HFE HH with particular reference to the Asia-Pacific region. Challenges in the genetic diagnosis of non-HFE HH are also discussed and how new technologies such as next generation sequencing may be informative in the future. © 2013 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd.

  10. Differential HFE gene expression is regulated by alternative splicing in human tissues.

    Science.gov (United States)

    Martins, Rute; Silva, Bruno; Proença, Daniela; Faustino, Paula

    2011-03-03

    The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants. Alternatively spliced HFE transcripts in diverse human tissues were identified by RT-PCR, cloning and sequencing. Total HFE transcripts, as well as two alternative splicing transcripts were quantified using a real-time PCR methodology. Intracellular localization, trafficking and protein association of GFP-tagged HFE protein variants were analysed in transiently transfected HepG2 cells by immunoprecipitation and immunofluorescence assays. Alternatively spliced HFE transcripts present both level- and tissue-specificity. Concerning the exon 2 skipping and intron 4 inclusion transcripts, the liver presents the lowest relative level, while duodenum presents one of the highest amounts. The protein resulting from exon 2 skipping transcript is unable to associate with β2M and TfR1 and reveals an ER retention. Conversely, the intron 4 inclusion transcript gives rise to a truncated, soluble protein (sHFE) that is mostly secreted by cells to the medium in association with β2M. HFE gene post-transcriptional regulation is clearly affected by a tissue-dependent alternative splicing mechanism. Among the corresponding proteins, a sHFE isoform stands out, which upon being secreted into the bloodstream, may act in remote tissues. It could be either an agonist or antagonist of the full length HFE, through hepcidin expression regulation in the liver or by controlling dietary iron absorption in the duodenum.

  11. Contribution of Hfe expression in macrophages to the regulation of hepatic hepcidin levels and iron loading

    OpenAIRE

    Makui, Hortence; Soares, Ricardo J.; Jiang, Wenlei; Constante, Marco; Santos, Manuela M.

    2005-01-01

    Hereditary hemochromatosis (HH), an iron overload disease associated with mutations in the HFE gene, is characterized by increased intestinal iron absorption and consequent deposition of excess iron, primarily in the liver. Patients with HH and Hfe-deficient (Hfe−/−) mice manifest inappropriate expression of the iron absorption regulator hepcidin, a peptide hormone produced by the liver in response to iron loading. In this study, we investigated the contribution of Hfe expression in macrophag...

  12. Differential HFE gene expression is regulated by alternative splicing in human tissues.

    Directory of Open Access Journals (Sweden)

    Rute Martins

    Full Text Available BACKGROUND: The pathophysiology of HFE-derived Hereditary Hemochromatosis and the function of HFE protein in iron homeostasis remain uncertain. Also, the role of alternative splicing in HFE gene expression regulation and the possible function of the corresponding protein isoforms are still unknown. The aim of this study was to gain insights into the physiological significance of these alternative HFE variants. METHODOLOGY/PRINCIPAL FINDINGS: Alternatively spliced HFE transcripts in diverse human tissues were identified by RT-PCR, cloning and sequencing. Total HFE transcripts, as well as two alternative splicing transcripts were quantified using a real-time PCR methodology. Intracellular localization, trafficking and protein association of GFP-tagged HFE protein variants were analysed in transiently transfected HepG2 cells by immunoprecipitation and immunofluorescence assays. Alternatively spliced HFE transcripts present both level- and tissue-specificity. Concerning the exon 2 skipping and intron 4 inclusion transcripts, the liver presents the lowest relative level, while duodenum presents one of the highest amounts. The protein resulting from exon 2 skipping transcript is unable to associate with β2M and TfR1 and reveals an ER retention. Conversely, the intron 4 inclusion transcript gives rise to a truncated, soluble protein (sHFE that is mostly secreted by cells to the medium in association with β2M. CONCLUSIONS/SIGNIFICANCE: HFE gene post-transcriptional regulation is clearly affected by a tissue-dependent alternative splicing mechanism. Among the corresponding proteins, a sHFE isoform stands out, which upon being secreted into the bloodstream, may act in remote tissues. It could be either an agonist or antagonist of the full length HFE, through hepcidin expression regulation in the liver or by controlling dietary iron absorption in the duodenum.

  13. Estudo das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro Study of C282Y, H63D and S65C mutations in the HFE gene in Brazilian patients with iron overload

    Directory of Open Access Journals (Sweden)

    Rodolfo D. Cançado

    2007-12-01

    Full Text Available Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram determinar a freqüência das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros com sobrecarga de ferro, verificar a coexistência de anemia hemolítica hereditária, hepatite C e consumo excessivo de bebida alcoólica nestes doentes e avaliar a influência destas variáveis sobre os depósitos de ferro do organismo. Saturação da transferrina, ferritina sérica e análise das mutações C282Y, H63D e S65C do gene HFE, pelo método da PCR, foram determinadas em cinqüenta doentes com sobrecarga de ferro atendidos no Hemocentro da Santa Casa de São Paulo entre janeiro de 2000 e maio de 2004. A freqüência de mutação do gene HFE nos doentes com sobrecarga de ferro foi de 76,0% (38/50. Saturação da transferrina e ferritina foram significativamente maiores nos doentes homozigotos para a mutação C282Y confirmando a correlação entre genótipo C282Y/C282Y e maior risco de sobrecarga de ferro. A coexistência de hepatite C, consumo excessivo de bebida alcoólica ou anemia hemolítica hereditária estão implicados em aumento dos estoques de ferro e constituem fator de risco adicional em pacientes com mutação do gene HFE para a condição de sobrecarga de ferro.Hemochromatosis is one of the most frequent genetic diseases in humans and one of the most important causes of iron overload. The aims of this study were to determine the frequency of C282Y, H63D and S65C mutations of the HFE gene in Brazilian patients with iron overload, to verify the coexistence of chronic hemolytic anemia, hepatitis C and excessive alcohol consumption and to evaluate the influence of these variables on body iron deposits. Transferrin saturation, serum ferritin and C282Y, H63D and S65C HFE gene mutations (by PCR method were determined in 50 patients with iron overload in the Hemocentro da

  14. GenBank

    Data.gov (United States)

    U.S. Department of Health & Human Services — GenBank is the NIH genetic sequence database, an annotated collection of all publicly available DNA sequences. GenBank is designed to provide and encourage access...

  15. HFE polymorphisms influence the response to chemotherapeutic agents via induction of p16INK4A.

    Science.gov (United States)

    Lee, Sang Y; Liu, Siying; Mitchell, Ryan M; Slagle-Webb, Becky; Hong, Young-Soo; Sheehan, Jonas M; Connor, James R

    2011-11-01

    HFE is a protein that impacts cellular iron uptake. HFE gene variants are identified as risk factors or modifiers for multiple diseases. Using HFE stably transfected human neuroblastoma cells, we found that cells carrying the C282Y HFE variant do not differentiate when exposed to retinoic acid. Therefore, we hypothesized HFE variants would impact response to therapeutic agents. Both the human neuroblastoma and glioma cells that express the C282Y HFE variant are resistant to Temodar, geldanamycin and γ-radiation. A gene array analysis revealed that p16INK4A (p16) expression was increased in association with C282Y expression. Decreasing p16 protein by siRNA resulted in increased vulnerability to all of the therapeutic agents suggesting that p16 is responsible for the resistance. Decreasing HFE expression by siRNA resulted in a 85% decrease in p16 expression in the neuroblastoma cells but not the astrocytoma cells. These data suggest a potential direct relationship between HFE and p16 that may be cell specific or mediated by different pathways in the different cell types. In conclusion, the C282Y HFE variant impacts the vulnerability of cancer cells to current treatment strategies apparently by increasing expression of p16. Although best known as a tumor suppressor, there are multiple reports that p16 is elevated in some forms of cancer. Given the frequency of the HFE gene variants, as high as 10% of the Caucasian population, these data provide compelling evidence that the C282Y HFE variant should be part of a pharmacogenetic strategy for evaluating treatment efficacy in cancer cells. Copyright © 2011 UICC.

  16. Effect of Hfe Deficiency on Memory Capacity and Motor Coordination after Manganese Exposure by Drinking Water in Mice.

    Science.gov (United States)

    Alsulimani, Helal Hussain; Ye, Qi; Kim, Jonghan

    2015-12-01

    Excess manganese (Mn) is neurotoxic. Increased manganese stores in the brain are associated with a number of behavioral problems, including motor dysfunction, memory loss and psychiatric disorders. We previously showed that the transport and neurotoxicity of manganese after intranasal instillation of the metal are altered in Hfe-deficient mice, a mouse model of the iron overload disorder hereditary hemochromatosis (HH). However, it is not fully understood whether loss of Hfe function modifies Mn neurotoxicity after ingestion. To investigate the role of Hfe in oral Mn toxicity, we exposed Hfe-knockout (Hfe (-/-)) and their control wild-type (Hfe (+/+)) mice to MnCl2 in drinking water (5 mg/mL) for 5 weeks. Motor coordination and spatial memory capacity were determined by the rotarod test and the Barnes maze test, respectively. Brain and liver metal levels were analyzed by inductively coupled plasma mass spectrometry. Compared with the water-drinking group, mice drinking Mn significantly increased Mn concentrations in the liver and brain of both genotypes. Mn exposure decreased iron levels in the liver, but not in the brain. Neither Mn nor Hfe deficiency altered tissue concentrations of copper or zinc. The rotarod test showed that Mn exposure decreased motor skills in Hfe (+/+) mice, but not in Hfe (-/-) mice (p = 0.023). In the Barns maze test, latency to find the target hole was not altered in Mn-exposed Hfe (+/+) compared with water-drinking Hfe (+/+) mice. However, Mn-exposed Hfe (-/-) mice spent more time to find the target hole than Mn-drinking Hfe (+/+) mice (p = 0.028). These data indicate that loss of Hfe function impairs spatial memory upon Mn exposure in drinking water. Our results suggest that individuals with hemochromatosis could be more vulnerable to memory deficits induced by Mn ingestion from our environment. The pathophysiological role of HFE in manganese neurotoxicity should be carefully examined in patients with HFE-associated hemochromatosis and

  17. Study of the effect of HFE gene mutations on iron overload in ...

    African Journals Online (AJOL)

    Background: HFE gene mutations have been shown to be responsible for hereditary hemochromatosis. Their effect on iron load in β-thalassemia patients and carriers remains controversial. Objectives: We aimed to determine the prevalence of HFE gene mutations (C282Y and H63D) in β-thalassemia patients and carriers ...

  18. Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

    DEFF Research Database (Denmark)

    Møller, Daniel Vega; Pecini, Redi; Gustafsson, Finn

    2010-01-01

    It is believed that hereditary hemochromatosis (HH) might play a role in cardiac disease (heart failure (HF) and ischemia). Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role...... and the prognostic significance of HFE genotypes....

  19. Transgenic HFE-dependent induction of hepcidin in mice does not require transferrin receptor-2.

    Science.gov (United States)

    Schmidt, Paul J; Fleming, Mark D

    2012-06-01

    Hereditary hemochomatosis (HH) is caused by mutations in several genes, including HFE and transferrin receptor-2 (TFR2). Loss of either protein decreases expression of the iron regulatory hormone hepcidin by the liver, leading to inappropriately high iron uptake from the diet, and resulting in systemic iron overload. In tissue culture, overexpressed HFE and TFR2 physically interact. Hepatocellular overexpression of Hfe in vivo increases hepcidin expression, despite an associated decrease in Tfr2. On this basis, we hypothesized that Tfr2 would not be required for Hfe-dependent up-regulation of hepcidin. We show that hepatocellular overexpression of Hfe in Tfr2(Y245X/Y245X) mice leads to hepcidin induction eventuating in iron deficiency and a hypochromic, microcytic anemia. Furthermore, coimmunoprecipitation studies using liver lysates did not provide evidence for physical interaction between Hfe and Tfr2 in vivo. In conclusion, we demonstrate that Tfr2 is not essential for Hfe-mediated induction of hepcidin expression, supporting the possibility that TFR2 may regulate iron metabolism in an HFE-independent manner. Copyright © 2012 Wiley Periodicals, Inc.

  20. HFE gene variants and iron-induced oxygen radical generation in idiopathic pulmonary fibrosis.

    Science.gov (United States)

    Sangiuolo, Federica; Puxeddu, Ermanno; Pezzuto, Gabriella; Cavalli, Francesco; Longo, Giuliana; Comandini, Alessia; Di Pierro, Donato; Pallante, Marco; Sergiacomi, Gianluigi; Simonetti, Giovanni; Zompatori, Maurizio; Orlandi, Augusto; Magrini, Andrea; Amicosante, Massimo; Mariani, Francesca; Losi, Monica; Fraboni, Daniela; Bisetti, Alberto; Saltini, Cesare

    2015-02-01

    In idiopathic pulmonary fibrosis (IPF), lung accumulation of excessive extracellular iron and macrophage haemosiderin may suggest disordered iron homeostasis leading to recurring microscopic injury and fibrosing damage. The current study population comprised 89 consistent IPF patients and 107 controls. 54 patients and 11 controls underwent bronchoalveolar lavage (BAL). Haemosiderin was assessed by Perls' stain, BAL fluid malondialdehyde (MDA) by high-performance liquid chromatography, BAL cell iron-dependent oxygen radical generation by fluorimetry and the frequency of hereditary haemochromatosis HFE gene variants by reverse dot blot hybridisation. Macrophage haemosiderin, BAL fluid MDA and BAL cell unstimulated iron-dependent oxygen radical generation were all significantly increased above controls (pHFE allelic variants was markedly higher in IPF compared with controls (40.4% versus 22.4%, OR 2.35, p=0.008) and was associated with higher iron-dependent oxygen radical generation (HFE variant 107.4±56.0, HFE wild type (wt) 59.4±36.4 and controls 16.7±11.8 fluorescence units per 10(5) BAL cells; p=0.028 HFE variant versus HFE wt, p=0.006 HFE wt versus controls). The data suggest iron dysregulation associated with HFE allelic variants may play an important role in increasing susceptibility to environmental exposures, leading to recurring injury and fibrosis in IPF. Copyright ©ERS 2015.

  1. HFE Genotyping in Patients with Elevated Serum Iron Indices and Liver Diseases

    Directory of Open Access Journals (Sweden)

    Andreia Silva Evangelista

    2015-01-01

    Full Text Available Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS > 45%, and serum ferritin (SF > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n=16 were the HFE hereditary hemochromatosis (HFE-HH group; and C282Y and H63D single heterozygotes, the H63D/H63D genotype, and wild-type were considered group 2 (n=92. Nonalcoholic liver disease, alcoholism, and chronic hepatitis C were detected more frequently in group 2, whereas arthropathy, hepatocarcinoma, diabetes, and osteoporosis rates were significantly higher in the HFE-HH group. TS > 82%, SF > 2685 ng/mL, and serum iron > 178 μg/dL were the cutoffs for diagnosis of HFE-HH in patients with liver disease. Thus, in non-Caucasian populations with chronic liver disease, HFE-HH diagnosis is more predictable in those with iron levels higher than those proposed in current guidelines for the general population.

  2. Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.

    Science.gov (United States)

    Wang, Yongwei; Du, Yali; Liu, Gang; Guo, Shanshan; Hou, Bo; Jiang, Xianyong; Han, Bing; Chang, Yanzhong; Nie, Guangjun

    2017-04-01

    Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups. In the current work, we describe eight Chinese cases of hereditary hemochromatosis. Gene sequencing results revealed eight mutations (five novel mutations) in HFE, HFE2, TfR2, and SLC40A1 genes in these Chinese HH patients. In addition, we used Polymorphism Phenotyping v2 (Polyphen), Sorting Intolerant From Tolerant (SIFT), and a sequence alignment program to predict the molecular consequences of missense mutations.

  3. HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?

    Science.gov (United States)

    Santos, Paulo C J L; Pereira, Alexandre C; Cançado, Rodolfo D; Schettert, Isolmar T; Sobreira, Tiago J P; Oliveira, Paulo S L; Hirata, Rosario D C; Hirata, Mario H; Figueiredo, Maria Stella; Chiattone, Carlos S; Krieger, Jose E; Guerra-Shinohara, Elvira M

    2010-12-15

    Rare HFE variants have been shown to be associated with hereditary hemochromatosis (HH), an iron overload disease. The low frequency of the HFE p.C282Y mutation in HH-affected Brazilian patients may suggest that other HFE-related mutations may also be implicated in the pathogenesis of HH in this population. The main aim was to screen for new HFE mutations in Brazilian individuals with primary iron overload and to investigate their relationship with HH. Fifty Brazilian patients with primary iron overload (transferrin saturation>50% in females and 60% in males) were selected. Subsequent bidirectional sequencing for each HFE exon was performed. The effect of HFE mutations on protein structure were analyzed by molecular dynamics simulation and free binding energy calculations. p.C282Y in homozygosis or in heterozygosis with p.H63D were the most frequent genotypic combinations associated with HH in our sample population (present in 17 individuals, 34%). Thirty-six (72.0%) out of the 50 individuals presented at least one HFE mutation. The most frequent genotype associated with HH was the homozygous p.C282Y mutation (n=11, 22.0%). One novel mutation (p.V256I) was indentified in heterozygosis with the p.H63D mutation. In silico modeling analysis of protein behavior indicated that the p.V256I mutation does not reduce the binding affinity between HFE and β2-microglobulin (β2M) in the same way the p.C282Y mutation does compared with the native HFE protein. In conclusion, screening of HFE through direct sequencing, as compared to p.C282Y/p.H63D genotyping, was not able to increase the molecular diagnosis yield of HH. The novel p.V256I mutation could not be implicated in the molecular basis of the HH phenotype, although its role cannot be completely excluded in HH-phenotype development. Our molecular modeling analysis can help in the analysis of novel, previously undescribed, HFE mutations. Copyright © 2010 Elsevier Inc. All rights reserved.

  4. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda.

    Science.gov (United States)

    Stölzel, Ulrich; Köstler, Erich; Schuppan, Detlef; Richter, Matthias; Wollina, Uwe; Doss, Manfred O; Wittekind, Christian; Tannapfel, Andrea

    2003-03-01

    To examine the role of hemochromatosis (HFE) gene mutations, which are associated with porphyria cutanea tarda (PCT), in the therapeutic response to chloroquine. We retrospectively analyzed a database (Excel version 2001 [Microsoft Excel, Redmond, Wash]; date range of search, 1985-1999) of chloroquine-treated patients with PCT on whether HFE mutations (C282Y and H63D) might have influenced the clinical response, urinary porphyrin excretion, liver enzyme activities, and serum iron markers. Serum samples and corresponding complete sets of data before and after therapy were available in 62 of 207 patients with PCT who were treated exclusively with chloroquine. Academic teaching hospital. For treatment, low-dose chloroquine diphosphate, 125 to 250 mg twice weekly, was used during a median time of 16 months (range, 12-26 months). Of the 62 German patients with PCT, 37 (60%) carries HFE mutations. Chloroquine therapy was accompanied by clinical remission and reduced urinary porphyrin excretion (P<.001) in the 24 patients (39%) with HFE wild type as well as in 35 HFE heterozygous patients with PCT (56%). Decreases of serum iron markers following chloroquine therapy were limited to patients with PCT and HFE wild type. All patients homozygous for the C282Y mutation (3 [5%] of 62) had high serum iron, ferritin, and transferrin saturation and failed to respond to chloroquine treatment. The therapeutic response to chloroquine was not compromised by C282Y heterozygosity and compound heterozygosity of HFE mutations. Because HFE C282Y homozygotes (+/+) did not respond to chloroquine and a decrease in serum iron concentration was limited to patients with PCT and HFE wild type, phlebotomy should be first-line therapy in patients with PCT and HFE mutations.

  5. GenBank

    OpenAIRE

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Rapp, Barbara A.; Wheeler, David L.

    2002-01-01

    The GenBank sequence database incorporates publicly available DNA sequences of more than 105 000 different organisms, primarily through direct submission of sequence data from individual laboratories and large-scale sequencing projects. Most submissions are made using the BankIt (web) or Sequin programs and accession numbers are assigned by GenBank staff upon receipt. Data exchange with the EMBL Data Library and the DNA Data Bank of Japan helps ensure comprehensive worldwide coverage. GenBank...

  6. Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1

    Directory of Open Access Journals (Sweden)

    Simmons Zachary

    2009-02-01

    Full Text Available Abstract Background Polymorphisms in the MHC class 1-like gene known as HFE have been proposed as genetic modifiers of neurodegenerative diseases that include neuroinflammation as part of the disease process. Variants of HFE are relatively common in the general population and are most commonly associated with iron overload, but can promote subclinical cellular iron loading even in the absence of clinically identified disease. The effects of the variants as well as the resulting cellular iron dyshomeostasis potentially impact a number of disease-associated pathways. We tested the hypothesis that the two most common HFE variants, H63D and C282Y, would affect cellular secretion of cytokines and trophic factors. Methods We screened a panel of cytokines and trophic factors using a multiplexed immunoassay in human neuroblastoma SH-SY5Y cells expressing different variants of HFE. The influence of cellular iron secretion on the potent chemokine monocyte chemoattractant protein-1 (MCP-1 was assessed using ferric ammonium citrate and the iron chelator, desferroxamine. Additionally, an antioxidant, Trolox, and an anti-inflammatory, minocycline, were tested for their effects on MCP-1 secretion in the presence of HFE variants. Results Expression of the HFE variants altered the labile iron pool in SH-SY5Y cells. Of the panel of cytokines and trophic factors analyzed, only the release of MCP-1 was affected by the HFE variants. We further examined the relationship between iron and MCP-1 and found MCP-1 secretion tightly associated with intracellular iron status. A potential direct effect of HFE is considered because, despite having similar levels of intracellular iron, the association between HFE genotype and MCP-1 expression was different for the H63D and C282Y HFE variants. Moreover, HFE genotype was a factor in the effect of minocycline, a multifaceted antibiotic used in treating a number of neurologic conditions associated with inflammation, on MCP-1

  7. Mecanismos genéticos de activación de vías de señalización celular en neoplasias mieloproliferativas crónicas BCR-ABL1 negativas

    OpenAIRE

    Aranaz, P. (Paula); Vizmanos, J.L. (José Luis)

    2012-01-01

    El objetivo principal de este trabajo consistió en determinar la causa molecular de un grupo de pacientes con diversas NMPCs que no presentaban las alteraciones genéticas más frecuentes encontradas en estas enfermedades. En concreto, nos centramos en la caracterización de alteraciones localizadas en genes codificantes de TKs y en otros genes implicados en su regulación, cuya alteración podría inducir un efecto similar al de la activación constitutiva de una TK. Los objetivos concretos fuer...

  8. HFE mRNA expression is responsive to intracellular and extracellular iron loading: short communication.

    Science.gov (United States)

    Mehta, Kosha J; Farnaud, Sebastien; Patel, Vinood B

    2017-10-01

    In liver hepatocytes, the HFE gene regulates cellular and systemic iron homeostasis by modulating cellular iron-uptake and producing the iron-hormone hepcidin in response to systemic iron elevation. However, the mechanism of iron-sensing in hepatocytes remain enigmatic. Therefore, to study the effect of iron on HFE and hepcidin (HAMP) expressions under distinct extracellular and intracellular iron-loading, we examined the effect of holotransferrin treatment (1, 2, 5 and 8 g/L for 6 h) on intracellular iron levels, and mRNA expressions of HFE and HAMP in wild-type HepG2 and previously characterized iron-loaded recombinant-TfR1 HepG2 cells. Gene expression was analyzed by real-time PCR and intracellular iron was measured by ferrozine assay. Data showed that in the wild-type cells, where intracellular iron content remained unchanged, HFE expression remained unaltered at low holotransferrin treatments but was upregulated upon 5 g/L (p HFE and HAMP expressions were elevated only at low 1 g/L treatment (p HFE (p HFE mRNA was independently elevated by extracellular and intracellular iron-excess. Thus, it may be involved in sensing both, extracellular and intracellular iron. Repression of HAMP expression under simultaneous intracellular and extracellular iron-loading resembles non-hereditary iron-excess pathologies.

  9. Tmprss6 is a genetic modifier of the Hfe-hemochromatosis phenotype in mice

    Science.gov (United States)

    Whittlesey, Rebecca L.; Andrews, Nancy C.

    2011-01-01

    The hereditary hemochromatosis protein HFE promotes the expression of hepcidin, a circulating hormone produced by the liver that inhibits dietary iron absorption and macrophage iron release. HFE mutations are associated with impaired hepatic bone morphogenetic protein (BMP)/SMAD signaling for hepcidin production. TMPRSS6, a transmembrane serine protease mutated in iron-refractory iron deficiency anemia, inhibits hepcidin expression by dampening BMP/SMAD signaling. In the present study, we used genetic approaches in mice to examine the relationship between Hfe and Tmprss6 in the regulation of systemic iron homeostasis. Heterozygous loss of Tmprss6 in Hfe−/− mice reduced systemic iron overload, whereas homozygous loss caused systemic iron deficiency and elevated hepatic expression of hepcidin and other Bmp/Smad target genes. In contrast, neither genetic loss of Hfe nor hepatic Hfe overexpression modulated the hepcidin elevation and systemic iron deficiency of Tmprss6−/− mice. These results indicate that genetic loss of Tmprss6 increases Bmp/Smad signaling in an Hfe-independent manner that can restore Bmp/Smad signaling in Hfe−/− mice. Furthermore, these results suggest that natural genetic variation in the human ortholog TMPRSS6 might modify the clinical penetrance of HFE-associated hereditary hemochromatosis, raising the possibility that pharmacologic inhibition of TMPRSS6 could attenuate iron loading in this disorder. PMID:21355094

  10. The impact of H63D HFE gene carriage on hemoglobin and iron status in children.

    Science.gov (United States)

    Barbara, Kaczorowska-Hac; Marcin, Luszczyk; Jedrzej, Antosiewicz; Wieslaw, Ziolkowski; Elzbieta, Adamkiewicz-Drozynska; Malgorzata, Mysliwiec; Ewa, Milosz; Jacek, Kaczor Jan

    2016-12-01

    The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. Hereditary hemochromatosis is a heterogenic metabolic syndrome which is due to unchecked transfer of iron into the bloodstream and its toxic effects on parenchymatous organs. It is caused by the mutation of genes that encode proteins that help hepcidin to monitor serum iron. These proteins include the human hemochromatosis protein -HFE, transferrin-receptor 2, hemojuvelin in rare instances, and ferroportin. HFE-related hemochromatosis is the most frequent form of the disease. Interestingly, the low penetrance of polymorphic HFE genes results in rare clinical presentation of the disease, predominantly in middle-aged males. Taking into account the wide dispersion of HFE mutation in our population and also its unknown role in heterozygotes, we analyzed the impact of H63D HFE carriage in the developmental age, with respect to gender, on the iron status and hemoglobin concentration of carriers in comparison to those of wild-type HFE gene (12.7 ± 3.07 years, 42 boys and 41 girls). H63D carriers presented higher blood iron, transferrin saturation, and ferritin concentration than wild-type probands (p HFE heterozygotes.

  11. C282Y-HFE gene variant affects cholesterol metabolism in human neuroblastoma cells.

    Science.gov (United States)

    Ali-Rahmani, Fatima; Huang, Michael A; Schengrund, C-L; Connor, James R; Lee, Sang Y

    2014-01-01

    Although disruptions in the maintenance of iron and cholesterol metabolism have been implicated in several cancers, the association between variants in the HFE gene that is associated with cellular iron uptake and cholesterol metabolism has not been studied. The C282Y-HFE variant is a risk factor for different cancers, is known to affect sphingolipid metabolism, and to result in increased cellular iron uptake. The effect of this variant on cholesterol metabolism and its possible relevance to cancer phenotype was investigated using wild type (WT) and C282Y-HFE transfected human neuroblastoma SH-SY5Y cells. Expression of C282Y-HFE in SH-SY5Y cells resulted in a significant increase in total cholesterol as well as increased transcription of a number of genes involved in its metabolism compared to cells expressing WT-HFE. The marked increase in expression of NPC1L1 relative to that of most other genes, was accompanied by a significant increase in expression of NPC1, a protein that functions in cholesterol uptake by cells. Because inhibitors of cholesterol metabolism have been proposed to be beneficial for treating certain cancers, their effect on the viability of C282Y-HFE neuroblastoma cells was ascertained. C282Y-HFE cells were significantly more sensitive than WT-HFE cells to U18666A, an inhibitor of desmosterol Δ24-reductase the enzyme catalyzing the last step in cholesterol biosynthesis. This was not seen for simvastatin, ezetimibe, or a sphingosine kinase inhibitor. These studies indicate that cancers presenting in carriers of the C282Y-HFE allele might be responsive to treatment designed to selectively reduce cholesterol content in their tumor cells.

  12. Genèse des magmas associés à l'ouverture d'un domaine océanique : Géochimie des laves du Nord-Est de l'Afrique (Mer Rouge-Afar) et d'Arabie

    OpenAIRE

    Barrat , Jean-Alix ,

    1991-01-01

    Mémoires et Documents du CAESS, n°48; L'existence d'un point chaud localisé en Afar est confirmée. Principalement deux composants mantelliques interviennent dans la genèse des laves du Sud de la Mer Rouge et d'Afar: un manteau appauvri en LREE et une source présentant des caractéristiques du pôle HIMU. Certains basaltes des plateaux éthiopiens et d'Afar (en particulier ceux émis avant l'ouverture du Golfe de Tadjoura) sont contaminés par la croûte continentale. Les résultats analytiques prése...

  13. Pathophysiological consequences and benefits of HFE mutations: 20 years of research

    Science.gov (United States)

    Hollerer, Ina; Bachmann, André; Muckenthaler, Martina U.

    2017-01-01

    Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summarize historical facts and recent research findings about hereditary hemochromatosis, and outline the pathological consequences of the associated gene defects. In addition, we discuss potential advantages of HFE mutations in asymptomatic carriers. PMID:28280078

  14. Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

    Science.gov (United States)

    Lee, Sang Y; Zhu, Junjia; Salzberg, Anna C; Zhang, Bo; Liu, Dajiang J; Muscat, Joshua E; Langan, Sara T; Connor, James R

    2017-01-01

    Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA) GBM (Caucasian only) database. We found 9 SNVs with increased frequency in blood normal of TCGA GBM patients compared to the 1000Genome. Among 9 SNVs, 7 SNVs were located in the intron and 2 SNVs (i.e., H63D, C282Y) in the exon of HFE gene. The statistical analysis demonstrated that blood normal samples of TCGA GBM have more H63D (p = 0.0002, 95% Confidence interval (CI): 0.2119-0.3223) or C282Y (p = 0.0129, 95% CI: 0.0474-0.1159) HFE polymorphisms than 1000Genome. The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT) HFE and H63D, and WT HFE and C282Y GBM patients. In addition, there was no difference in the survival of male/female GBM patients based on HFE genotype. There was no correlation between HFE expression and survival. In conclusion, the current results suggest that somatic HFE polymorphisms do not impact GBM patients' survival in the TCGA data set of GBM.

  15. Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.

    Directory of Open Access Journals (Sweden)

    Sang Y Lee

    Full Text Available Human hemochromatosis protein (HFE is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM. However, the effect of other single nucleotide variation (SNV in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA GBM (Caucasian only database. We found 9 SNVs with increased frequency in blood normal of TCGA GBM patients compared to the 1000Genome. Among 9 SNVs, 7 SNVs were located in the intron and 2 SNVs (i.e., H63D, C282Y in the exon of HFE gene. The statistical analysis demonstrated that blood normal samples of TCGA GBM have more H63D (p = 0.0002, 95% Confidence interval (CI: 0.2119-0.3223 or C282Y (p = 0.0129, 95% CI: 0.0474-0.1159 HFE polymorphisms than 1000Genome. The Kaplan-Meier survival curve for the 264 GBM samples revealed no difference between wild type (WT HFE and H63D, and WT HFE and C282Y GBM patients. In addition, there was no difference in the survival of male/female GBM patients based on HFE genotype. There was no correlation between HFE expression and survival. In conclusion, the current results suggest that somatic HFE polymorphisms do not impact GBM patients' survival in the TCGA data set of GBM.

  16. HFE gene mutation is a risk factor for tissue iron accumulation in hemodialysis patients.

    Science.gov (United States)

    Turkmen, Ercan; Yildirim, Tolga; Yilmaz, Rahmi; Hazirolan, Tuncay; Eldem, Gonca; Yilmaz, Engin; Aybal Kutlugun, Aysun; Altindal, Mahmut; Altun, Bulent

    2017-07-01

    HFE gene mutations are responsible from iron overload in general population. Studies in hemodialysis patients investigated the effect of presence of HFE gene mutations on serum ferritin and transferrin saturation (TSAT) with conflicting results. However effect of HFE mutations on iron overload in hemodialysis patients was not previously extensively studied. 36 hemodialysis patients (age 51.3 ± 15.6, (18/18) male/female) and 44 healthy control subjects included in this cross sectional study. Hemoglobin, ferritin, TSAT in the preceding 2 years were recorded. Iron and erythropoietin (EPO) administered during this period were calculated. Iron accumulation in heart and liver was detected by MRI. Relationship between HFE gene mutation, hemoglobin, iron parameters and EPO doses, and tissue iron accumulation were determined. Iron overload was detected in nine (25%) patients. Hemoglobin, iron parameters, weekly EPO doses, and monthly iron doses of patients with and without iron overload were similar. There was no difference between control group and hemodialysis patients with respect to the prevalence of HFE gene mutations. Iron overload was detected in five of eight patients who had HFE gene mutations, but iron overload was present in 4 of 28 patients who had no mutations (P = 0.01). Hemoglobin, iron parameters, erythropoietin, and iron doses were similar in patients with and without gene mutations. HFE gene mutations remained the main determinant of iron overload after multivariate logistic regression analysis (P = 0.02; OR, 11.6). Serum iron parameters were not adequate to detect iron overload and HFE gene mutation was found to be an important risk factor for iron accumulation. © 2017 International Society for Hemodialysis.

  17. GenBank

    OpenAIRE

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Wheeler, David L.

    2006-01-01

    GenBank (R) is a comprehensive database that contains publicly available nucleotide sequences for more than 240 000 named organisms, obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects. Most submissions are made using the web-based BankIt or standalone Sequin programs and accession numbers are assigned by GenBank staff upon receipt. Daily data exchange with the EMBL Data Library in Europe and the DNA Data Bank of Japan...

  18. GenBank

    OpenAIRE

    Benson, Dennis A.; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Sayers, Eric W.

    2008-01-01

    GenBank? is a comprehensive database that contains publicly available nucleotide sequences for more than 300 000 organisms named at the genus level or lower, obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects. Most submissions are made using the web-based BankIt or standalone Sequin programs, and accession numbers are assigned by GenBank? staff upon receipt. Daily data exchange with the European Molecular Biology Labo...

  19. GenBank

    OpenAIRE

    Benson, Dennis A.; Cavanaugh, Mark; Clark, Karen; Karsch-Mizrachi, Ilene; Lipman, David J.; Ostell, James; Sayers, Eric W.

    2012-01-01

    GenBank? (http://www.ncbi.nlm.nih.gov) is a comprehensive database that contains publicly available nucleotide sequences for almost 260 000 formally described species. These sequences are obtained primarily through submissions from individual laboratories and batch submissions from large-scale sequencing projects, including whole-genome shotgun (WGS) and environmental sampling projects. Most submissions are made using the web-based BankIt or standalone Sequin programs, and GenBank staff assig...

  20. Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls

    Science.gov (United States)

    Yin, Wei-Li; Wang, Feng-Mei; Han, Tao

    2016-01-01

    Background Conflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D) of human HFE (hereditary hemochromatosis) gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD), liver cirrhosis and hepatocellular carcinoma (HCC). Methods An updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis. Results In total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, PassociationHFE C282Y and H63D (all Passociation>0.05). In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, PassociationHFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion. PMID:27657935

  1. Generation of Anomalous Internal Pressures in Source Rocks and Its Role in Driving Petroleum Migration La genèse de pressions internes anormales dans les roches mères et son rôle de poussée dans la migration du pétrole

    Directory of Open Access Journals (Sweden)

    Barker C.

    2006-11-01

    Full Text Available High pressures generated within shales probably have an important role in driving the expulsion of oil and gas. The rising temperature that accompanies increasing depth of burial and drives the generation process causes thermal expansion of the water and in an isolated pore aquathermal pressuringcan lead to high overpressures. In addition, the generation process itself seems to proceed with a volume increase that can cause very high overpressures. These mechanisms have been discussed previously only for liquid-filled systems. The presence of gas leads to very different behaviour and pores in source rocks become subnormally pressured on burial unless there is sufficient generation from the organic matter to offset this. In the absence of continuing generation (e. g. for biogenic methane gas steadily dissolves and pressures fall considerably below hydrostatic. Conversely, on uplift gas-bearing systems tend to overpressure and the pressure can rise to the rock load for the depth when fracturing must occur. Thermal cracking of the bitumens that remain in a source rock as it is buried goes with a volume increase, and in an isolated pore system pressures rise to high values. Only about one percent of oil-like butimen needs to be cracked to gas for the pressure to reach the rock load with fracturing as an inevitable consequence. Les pressions élevées générées dans les argiles jouent probablement un rôle important dans l'expulsion de l'huile et du gaz. L'augmentation de température, qui accompagne l'enfouissement et contrôle les processus de genèse, est la cause d'une dilatation thermique de l'eau et, dans un pore isolé, l'aquathermal pressuring peut amener des surpressions élevées. De plus, le processus de genèse lui-même semble être accompagné d'une augmentation de volume pouvant être également la cause de surpressions élevées. Ces mécanismes ont déjà fait l'objet d'études, mais seulement pour des systèmes imbibés de liquides

  2. Human Factors Engineering (HFE) insights for advanced reactors based upon operating experience

    International Nuclear Information System (INIS)

    Higgins, J.; Nasta, K.

    1997-01-01

    The NRC Human Factors Engineering Program Review Model (HFE PRM, NUREG-0711) was developed to support a design process review for advanced reactor design certification under 10CFR52. The HFE PRM defines ten fundamental elements of a human factors engineering program. An Operating Experience Review (OER) is one of these elements. The main purpose of an OER is to identify potential safety issues from operating plant experience and ensure that they are addressed in a new design. Broad-based experience reviews have typically been performed in the past by reactor designers. For the HFE PRM the intent is to have a more focussed OER that concentrates on HFE issues or experience that would be relevant to the human-system interface (HSI) design process for new advanced reactors. This document provides a detailed list of HFE-relevant operating experience pertinent to the HSI design process for advanced nuclear power plants. This document is intended to be used by NRC reviewers as part of the HFE PRM review process in determining the completeness of an OER performed by an applicant for advanced reactor design certification. 49 refs

  3. HFE H63D mutation frequency shows an increase in Turkish women with breast cancer

    Directory of Open Access Journals (Sweden)

    Guler Emine

    2006-02-01

    Full Text Available Abstract Background The hereditary hemochromatosis gene HFE plays a pivotal role in iron homeostasis. The association between cancer and HFE hetero- or homozygosity has previously been shown including hepatocellular and nonhepatocellular malignancies. This study was performed to compare frequencies of HFE C282Y and H63D variants in Turkish women with breast cancer and healthy controls. Methods Archived DNA samples of Hacettepe University Oncology Institute were used in this study. The HFE gene was investigated by PCR-RFLP. Results All subjects studied were free from C282Y mutation. Thirty-nine patients had H63D mutation and were all heterozygous. H63D allele frequency was 22.2% (39/176 in the breast cancer patients, and 14% (28/200 in the healthy volunteers. Statistical analysis of cases with HFE H63D phenotype showed significant difference between breast cancer and healthy volunteers (P = 0.02. Conclusion Our results suggest that HFE H63D mutation frequencies were increased in the breast cancer patients in comparison to those in the general population. Also, odds ratios (odds ratio = 2.05 computed in this study suggest that H63D has a positive association with breast cancer.

  4. Global transcriptional response to Hfe deficiency and dietary iron overload in mouse liver and duodenum.

    Directory of Open Access Journals (Sweden)

    Alejandra Rodriguez

    2009-09-01

    Full Text Available Iron is an essential trace element whose absorption is usually tightly regulated in the duodenum. HFE-related hereditary hemochromatosis (HH is characterized by abnormally low expression of the iron-regulatory hormone, hepcidin, which results in increased iron absorption. The liver is crucial for iron homeostasis as it is the main production site of hepcidin. The aim of this study was to explore and compare the genome-wide transcriptome response to Hfe deficiency and dietary iron overload in murine liver and duodenum. Illumina arrays containing over 47,000 probes were used to study global transcriptional changes. Quantitative RT-PCR (Q-RT-PCR was used to validate the microarray results. In the liver, the expression of 151 genes was altered in Hfe(-/- mice while dietary iron overload changed the expression of 218 genes. There were 173 and 108 differentially expressed genes in the duodenum of Hfe(-/- mice and mice with dietary iron overload, respectively. There was 93.5% concordance between the results obtained by microarray analysis and Q-RT-PCR. Overexpression of genes for acute phase reactants in the liver and a strong induction of digestive enzyme genes in the duodenum were characteristic of the Hfe-deficient genotype. In contrast, dietary iron overload caused a more pronounced change of gene expression responsive to oxidative stress. In conclusion, Hfe deficiency caused a previously unrecognized increase in gene expression of hepatic acute phase proteins and duodenal digestive enzymes.

  5. Iron overload and HFE gene mutations in Czech patients with chronic liver diseases.

    Science.gov (United States)

    Dostalikova-Cimburova, Marketa; Kratka, Karolina; Stransky, Jaroslav; Putova, Ivana; Cieslarova, Blanka; Horak, Jiri

    2012-01-01

    The aim of the study was to identify the prevalence of HFE gene mutations in Czech patients with chronic liver diseases and the influence of the mutations on iron status. The presence of HFE gene mutations (C282Y, H63D, and S65C) analyzed by the PCR-RFLP method, presence of cirrhosis, and serum iron indices were compared among 454 patients with different chronic liver diseases (51 with chronic hepatitis B, 122 with chronic hepatitis C, 218 with alcoholic liver disease, and 63 patients with hemochromatosis). Chronic liver diseases patients other than hemochromatics did not have an increased frequency of HFE gene mutations compared to controls. Although 33.3% of patients with hepatitis B, 43% of patients with hepatitis C, and 73.2% of patients with alcoholic liver disease had elevated transferrin saturation or serum ferritin levels, the presence of HFE gene mutations was not significantly associated with iron overload in these patients. Additionally, patients with cirrhosis did not have frequencies of HFE mutations different from those without cirrhosis. This study emphasizes the importance, not only of C282Y, but also of the H63D homozygous genetic constellation in Czech hemochromatosis patients. Our findings show that increased iron indices are common in chronic liver diseases but {\\it HFE} mutations do not play an important role in the pathogenesis of chronic hepatitis B, chronic hepatitis C, and alcoholic liver disease.

  6. Spent nuclear fuel project, Cold Vacuum Drying Facility human factors engineering (HFE) analysis: Results and findings

    International Nuclear Information System (INIS)

    Garvin, L.J.

    1998-01-01

    This report presents the background, methodology, and findings of a human factors engineering (HFE) analysis performed in May, 1998, of the Spent Nuclear Fuels (SNF) Project Cold Vacuum Drying Facility (CVDF), to support its Preliminary Safety Analysis Report (PSAR), in responding to the requirements of Department of Energy (DOE) Order 5480.23 (DOE 1992a) and drafted to DOE-STD-3009-94 format. This HFE analysis focused on general environment, physical and computer workstations, and handling devices involved in or directly supporting the technical operations of the facility. This report makes no attempt to interpret or evaluate the safety significance of the HFE analysis findings. The HFE findings presented in this report, along with the results of the CVDF PSAR Chapter 3, Hazards and Accident Analyses, provide the technical basis for preparing the CVDF PSAR Chapter 13, Human Factors Engineering, including interpretation and disposition of findings. The findings presented in this report allow the PSAR Chapter 13 to fully respond to HFE requirements established in DOE Order 5480.23. DOE 5480.23, Nuclear Safety Analysis Reports, Section 8b(3)(n) and Attachment 1, Section-M, require that HFE be analyzed in the PSAR for the adequacy of the current design and planned construction for internal and external communications, operational aids, instrumentation and controls, environmental factors such as heat, light, and noise and that an assessment of human performance under abnormal and emergency conditions be performed (DOE 1992a)

  7. Development of a HFE program for an operating NPP: Balancing between existing design practices and human factors standards

    International Nuclear Information System (INIS)

    Salo, Leena; Savioja, Paula

    2014-01-01

    This paper describes HFE program development project conducted at a Finnish power company Fortum. The aim of developing a formal HFE program was to improve integration of human factors issues in design of technical systems and to systematically document the HFE process of the company. As Fortum has a long tradition of designing control room solutions, the starting point of the HFE program development was the existing own design practices. On the other hand, the aim was to create a program which would comply with international guidelines such as NUREG-0711. The program development was conducted by tracing the HFE design practices in an on-going I and C modernization project. This empirical work was carried out by interviews of designers and other HFE key stake holders. After the explication of the current practices, the gaps, overlaps and differences in relation to the international standards and guidelines were identified. Based on an analysis of current practices and guidelines and standards a new HFE process model was created. The design process model can be followed in modifications which concern systems with human user interfaces of any kind. The model consists of five separate phases which comply with the general engineering design process model utilized at the company. The HFE program is intended to be both a practical guide on how to take human factors issues into consideration in the design of NPP systems and also a tool for the management of HFE activities

  8. Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis.

    Science.gov (United States)

    Lee, Seung-Min; Loguinov, Alexandre; Fleming, Robert E; Vulpe, Christopher D

    2015-01-01

    Hereditary hemochromatosis is an iron overload disorder most commonly caused by a defect in the HFE gene. While the genetic defect is highly prevalent, the majority of individuals do not develop clinically significant iron overload, suggesting the importance of genetic modifiers. Murine hfe knockout models have demonstrated that strain background has a strong effect on the severity of iron loading. We noted that hepatic iron loading in hfe-/- mice occurs primarily over the first postnatal weeks (loading phase) followed by a timeframe of relatively static iron concentrations (plateau phase). We thus evaluated the effects of background strain and of age on hepatic gene expression in Hfe knockout mice (hfe-/-). Hepatic gene expression profiles were examined using cDNA microarrays in 4- and 8-week-old hfe-/- and wild-type mice on two different genetic backgrounds, C57BL/6J (C57) and AKR/J (AKR). Genes differentially regulated in all hfe-/- mice groups, compared with wild-type mice, including those involved in cell survival, stress and damage responses and lipid metabolism. AKR strain-specific changes in lipid metabolism genes and C57 strain-specific changes in cell adhesion and extracellular matrix protein genes were detected in hfe-/- mice. Mouse strain and age are each significantly associated with hepatic gene expression profiles in hfe-/- mice. These affects may underlie or reflect differences in iron loading in these mice.

  9. Factors affecting the appreciation generated through applying human factors/ergonomics (HFE) principles to systems of work.

    Science.gov (United States)

    So, R H Y; Lam, S T

    2014-01-01

    This retrospective study examined the levels of appreciation (applause) given by clients to Human Factors/Ergonomic (HFE) specialists after they have modified the systems of work. Thirteen non-academic projects were chosen because the HFE interventions involved changed the way workers work at their workplaces. Companies involved range from multi-national corporations and military organizations with thousands of employees to small trading companies with less than 10 employees. In 5 cases the HFE recommendations were fully adopted and well appreciated. In 4 they were largely ignored and not appreciated, with partial adoption and some appreciation in the other 4 cases. Three factors that predict appreciation were identified: (i) alignment between the benefits HFE can provide and the project's key performance indices; (ii) awareness of HFE among the client's senior management; and (iii) a team organization appropriate for applying HFE recommendations. Having an HFE specialist on the client's side can greatly increase levels of appreciation, but lack of such a specialist will not affect levels of appreciation. A clear contractual requirement for HFE intervention does not promote appreciation significantly, but its absence can greatly reduce levels of appreciation. These relationships are discussed using the Kano's model of quality. Means to generate greater appreciation of the benefits of HFE are discussed. Copyright © 2013 Elsevier Ltd and The Ergonomics Society. All rights reserved.

  10. HFE MUTATIONS AND IRON OVERLOAD IN PATIENTS WITH ALCOHOLIC LIVER DISEASE

    Directory of Open Access Journals (Sweden)

    Luis COSTA-MATOS

    2013-03-01

    Full Text Available Context Alcoholic liver disease (ALD is generally associated with iron overload, which may contribute to its pathogenesis, through increased oxidative stress and cellular damage. There are conflicting reports in literature about hemochromatosis (HFE gene mutations and the severity of liver disease in alcoholic patients. Objectives To compare the prevalence of mutations in the hemochromatosis (HFE gene between patients with ALD and healthy controls; to assess the relation of HFE mutations with liver iron stores and liver disease severity. Methods Liver biopsy specimens were obtained from 63 ALD patients (during routine treatment and 52 healthy controls (during elective cholecystectomy. All individuals underwent routine liver function tests and HFE genotyping (to detect wild-type sequences and C282Y, H63D, S65C, E168Q, E168X, V59M, H63H, P160delC, Q127H, Q283P, V53M and W164X mutations. Associations between HFE mutations and risk of excessive liver iron stores, abnormal serum ferritin, liver fibrosis, or necroinflammatory activity were assessed by multivariate logistic regression analysis. Results ALD patients had significantly higher serum ferritin and transferrin saturation than controls (both P<0.05, but the distribution of HFE mutations was similar between the two groups. For ALD patients, the odds ratio for having at least one HFE mutation and excessive liver iron stores was 17.23 (95% confidence interval (CI: 2.09-142.34, P = 0.008. However, the presence of at least one HFE mutation was not associated with an increased risk of liver fibrosis or necroinflammatory activity. Active alcohol ingestion showed the strongest association to increased serum ferritin (OR = 8.87, 95% CI: 2.11-34.78, P = 0.003. Conclusions ALD patients do not present with a differential profile of HFE mutations from healthy controls. In ALD patients, however, the presence of at least one HFE mutation increases the risk of having excessive liver iron stores but has no

  11. Alternative Polyadenylation and Nonsense-Mediated Decay Coordinately Regulate the Human HFE mRNA Levels

    Science.gov (United States)

    Martins, Rute; Proença, Daniela; Silva, Bruno; Barbosa, Cristina; Silva, Ana Luísa; Faustino, Paula; Romão, Luísa

    2012-01-01

    Nonsense-mediated decay (NMD) is an mRNA surveillance pathway that selectively recognizes and degrades defective mRNAs carrying premature translation-termination codons. However, several studies have shown that NMD also targets physiological transcripts that encode full-length proteins, modulating their expression. Indeed, some features of physiological mRNAs can render them NMD-sensitive. Human HFE is a MHC class I protein mainly expressed in the liver that, when mutated, can cause hereditary hemochromatosis, a common genetic disorder of iron metabolism. The HFE gene structure comprises seven exons; although the sixth exon is 1056 base pairs (bp) long, only the first 41 bp encode for amino acids. Thus, the remaining downstream 1015 bp sequence corresponds to the HFE 3′ untranslated region (UTR), along with exon seven. Therefore, this 3′ UTR encompasses an exon/exon junction, a feature that can make the corresponding physiological transcript NMD-sensitive. Here, we demonstrate that in UPF1-depleted or in cycloheximide-treated HeLa and HepG2 cells the HFE transcripts are clearly upregulated, meaning that the physiological HFE mRNA is in fact an NMD-target. This role of NMD in controlling the HFE expression levels was further confirmed in HeLa cells transiently expressing the HFE human gene. Besides, we show, by 3′-RACE analysis in several human tissues that HFE mRNA expression results from alternative cleavage and polyadenylation at four different sites – two were previously described and two are novel polyadenylation sites: one located at exon six, which confers NMD-resistance to the corresponding transcripts, and another located at exon seven. In addition, we show that the amount of HFE mRNA isoforms resulting from cleavage and polyadenylation at exon seven, although present in both cell lines, is higher in HepG2 cells. These results reveal that NMD and alternative polyadenylation may act coordinately to control HFE mRNA levels, possibly varying its

  12. Jean-Baptiste Comby, La Question climatique. Genèse et dépolitisation d’un problème public (Raisons d’Agir, 2015)

    OpenAIRE

    Tasset, Cyprien

    2016-01-01

    Une sociologie de la dépolitisation du changement climatique La radicalité climatique Comment se fait-il que la question du réchauffement climatique, qui est portée à l’attention publique dans les démocraties occidentales depuis de nombreuses années maintenant, n’ait pas abouti à des changements politiques proportionnés à l’extrême gravité que lui prêtent les scientifiques ? Dans La Question climatique, issu d’une thèse en information-communication soutenue en 2008, Jean-Baptiste Comby propos...

  13. La mise en tourisme de l'Ardenne belge (1850-1914) Genèse et évolution d'un espace touristique. Processus, acteurs et territoires.

    OpenAIRE

    Quériat, Stéphanie

    2010-01-01

    Ce travail sur la mise en tourisme de l’Ardenne se veut une première pierre sur laquelle, nous l’espérons, des recherches ultérieures, relatives à l’Ardenne mais aussi à d’autres espaces, pourront venir s’appuyer mais aussi se confronter. Pour poser les fondements, il fallait tenir compte du système touristique dans son ensemble et l’attaquer sur plusieurs fronts :celui des représentations, de la perception, celui correspondant à la réalité plus physique du territoire, celui de ses acteurs et...

  14. Protocolo de Nagoya sobre acceso a los recursos genéticos y participación justa y equitativa en los beneficios que se deriven de su utilización: cuatro retos para su implementación nacional en países de América Latina y el Caribe

    Directory of Open Access Journals (Sweden)

    Mónica Ribadeneira Sarmiento

    2014-12-01

    Full Text Available El Protocolo de Nagoya sobre Acceso a los Recursos Genéticos y Participación Justa y Equitativa en los Beneficios que se Deriven de su Utilización es el instrumento internacional que desarrolla el tercer objetivo del Convenio sobre la Diversidad Biológica con la finalidad de que el acceso sea transparente, ágil y en términos equitativos. En el artículo se resume el proceso, que duró casi una década, que tomaron las negociaciones internacionales y se analizan los principales elementos del Protocolo. Para los países de América Latina y el Caribe la implementación del Protocolo de Nagoya representa varios retos; este artículo aborda cuatro de ellos: dos estrictamente legales, uno de nivel general (el desarrollo de regímenes nacionales, un segundo aplicable al régimen marino, un tercer reto de carácter preventivo de actividades no autorizadas y biopiratería, y el último relativo al fomento de la investigación científica.

  15. Divergência genética entre genótipos de frangos tipo caipira

    Directory of Open Access Journals (Sweden)

    R. C. Veloso

    2015-10-01

    Full Text Available RESUMOObjetivou-se com este trabalho verificar a divergência genética entre sete genótipos de frangos tipo caipira da linhagem Redbro utilizando as características de desempenho por meio de técnicas de análise multivariada. Foram utilizados 840 pintos de um dia, machos, distribuídos em delineamento inteiramente ao acaso, dos seguintes genótipos: Caboclo, Carijó, Colorpak, Gigante Negro, Pesadão Vermelho, Pescoço Pelado e Tricolor. Após a consistência dos dados, foram avaliadas as seguintes variáveis: ganho em peso médio diário, consumo de ração médio diário e conversão alimentar, para os períodos: 1 a 28, 1 a 56, 1 a 70 e 1 a 84 dias de idade; peso corporal ao nascimento, aos 28, 56, 70 e aos 84 dias de idade. O desempenho dos genótipos foi avaliado por meio da análise de variância multivariada e da função discriminante linear de Fisher, usando os testes do maior autovalor de Roy e da união-interseção de Roy para as comparações múltiplas. O estudo da divergência genética foi feito por meio da análise por variáveis canônicas e pelo método de otimização de Tocher. Os genótipos Caboclo e Gigante Negro apresentaram médias canônicas diferentes dos demais genótipos. As duas primeiras variáveis canônicas explicaram 97,41% da variação entre os genótipos. A divergência genética entre os genótipos avaliados permitiu a formação de quatro grupos com os seguintes genótipos: grupo 1 - Colorpak; grupo 2 - Pesadão Vermelho e Pescoço Pelado; grupo 3 - Carijó e Tricolor; e grupo 4 - Caboclo e Gigante Negro.

  16. Trends in HFE Methods and Tools and Their Applicability to Safety Reviews

    Energy Technology Data Exchange (ETDEWEB)

    O' Hara, J.M.; Plott, C.; Milanski, J.; Ronan, A.; Scheff, S.; Laux, L.; and Bzostek, J.

    2009-09-30

    The U.S. Nuclear Regulatory Commission's (NRC) conducts human factors engineering (HFE) safety reviews of applicant submittals for new plants and for changes to existing plants. The reviews include the evaluation of the methods and tools (M&T) used by applicants as part of their HFE program. The technology used to perform HFE activities has been rapidly evolving, resulting in a whole new generation of HFE M&Ts. The objectives of this research were to identify the current trends in HFE methods and tools, determine their applicability to NRC safety reviews, and identify topics for which the NRC may need additional guidance to support the NRC's safety reviews. We conducted a survey that identified over 100 new HFE M&Ts. The M&Ts were assessed to identify general trends. Seven trends were identified: Computer Applications for Performing Traditional Analyses, Computer-Aided Design, Integration of HFE Methods and Tools, Rapid Development Engineering, Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. We assessed each trend to determine its applicability to the NRC's review by considering (1) whether the nuclear industry is making use of M&Ts for each trend, and (2) whether M&Ts reflecting the trend can be reviewed using the current design review guidance. We concluded that M&T trends that are applicable to the commercial nuclear industry and are expected to impact safety reviews may be considered for review guidance development. Three trends fell into this category: Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. The other trends do not need to be addressed at this time.

  17. Trends in HFE Methods and Tools and Their Applicability to Safety Reviews

    International Nuclear Information System (INIS)

    O'Hara, J.M.; Plott, C.; Milanski, J.; Ronan, A.; Scheff, S.; Laux, L.; Bzostek, J.

    2009-01-01

    The U.S. Nuclear Regulatory Commission's (NRC) conducts human factors engineering (HFE) safety reviews of applicant submittals for new plants and for changes to existing plants. The reviews include the evaluation of the methods and tools (M and T) used by applicants as part of their HFE program. The technology used to perform HFE activities has been rapidly evolving, resulting in a whole new generation of HFE M and Ts. The objectives of this research were to identify the current trends in HFE methods and tools, determine their applicability to NRC safety reviews, and identify topics for which the NRC may need additional guidance to support the NRC's safety reviews. We conducted a survey that identified over 100 new HFE M and Ts. The M and Ts were assessed to identify general trends. Seven trends were identified: Computer Applications for Performing Traditional Analyses, Computer-Aided Design, Integration of HFE Methods and Tools, Rapid Development Engineering, Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. We assessed each trend to determine its applicability to the NRC's review by considering (1) whether the nuclear industry is making use of M and Ts for each trend, and (2) whether M and Ts reflecting the trend can be reviewed using the current design review guidance. We concluded that M and T trends that are applicable to the commercial nuclear industry and are expected to impact safety reviews may be considered for review guidance development. Three trends fell into this category: Analysis of Cognitive Tasks, Use of Virtual Environments and Visualizations, and Application of Human Performance Models. The other trends do not need to be addressed at this time.

  18. HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.

    Science.gov (United States)

    Campos, W N; Massaro, J D; Martinelli, A L C; Halliwell, J A; Marsh, S G E; Mendes-Junior, C T; Donadi, E A

    2017-10-01

    The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference. Nine HFE alleles were detected and six of these were officially named on the basis of the HLA Nomenclature, defined by the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System, and published via the IPD-IMGT/HLA website. Four alleles, HFE*001, *002, *003, and *004 exhibited variation within their exon sequences. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. HFE Genotype Restricts the Response to Paraquat in a Mouse Model of Neurotoxicity.

    Science.gov (United States)

    Nixon, Anne M; Meadowcroft, Mark D; Neely, Elizabeth B; Snyder, Amanda M; Purnell, Carson J; Wright, Justin; Lamendella, Regina; Nandar, Wint; Huang, Xuemei; Connor, James R

    2018-05-01

    Parkinson's disease is marked clinically by motor dysfunction and pathologically by dopaminergic cell loss in the substantia nigra and iron accumulation in the substantia nigra. The driver underlying iron accumulation remains unknown and could be genetic or environmental. The HFE protein is critical for the regulation of cellular iron uptake. Mutations within this protein are associated with increased iron accumulation including in the brain. We have focused on the commonly occurring H63D variant of the HFE gene as a disease modifier in a number of neurodegenerative diseases. To investigate the role of H63D HFE genotype, we generated a mouse model in which the wild-type (WT) HFE gene is replaced by the H67D gene variant (mouse homolog of the human H63D gene variant). Using paraquat toxicity as the model for Parkinson's disease, we found that WT mice responded as expected with significantly greater motor function, loss of tyrosine hydroxylase staining and increase microglial staining in the substantia nigra, and an increase in R 2 relaxation rate within the substantia nigra of the paraquat-treated mice compared to their saline-treated counterparts. In contrast, the H67D mice showed a remarkable resistance to paraquat treatment; specifically differing from the WT mice with no changes in motor function or changes in R 2 relaxation rates following paraquat exposure. At baseline, there were differences between the H67D HFE mice and WT mice in gut microbiome profile and increased L-ferritin staining in the substantia nigra that could account for the resistance to paraquat. Of particular note, the H67D HFE mice regardless of whether or not they were treated with paraquat had significantly less tyrosine hydroxylase immunostaining than WT. Our results clearly demonstrate that the HFE genotype impacts the expression of tyrosine hydroxylase in the substantia nigra, the gut microbiome and the response to paraquat providing additional support that the HFE genotype is a disease

  20. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls

    OpenAIRE

    Holmström, P; Marmur, J; Eggertsen, G; Gåfvels, M; Stål, P

    2002-01-01

    Background and aims: The role of the HFE S65C mutation in the development of hepatic iron overload is unknown. The aim of the present study was: (A) to determine the HFE S65C frequency in a Northern European population; and (B) to evaluate whether the presence of the HFE S65C mutation would result in a significant hepatic iron overload.

  1. Preliminary investigation of bottlenose dolphins (Tursiops truncatus) for hfe gene-related hemochromatosis.

    Science.gov (United States)

    Phillips, Brianne E; Venn-Watson, Stephanie; Archer, Linda L; Nollens, Hendrik H; Wellehan, James F X

    2014-10-01

    Hemochromatosis (iron storage disease) has been reported in diverse mammals including bottlenose dolphins (Tursiops truncatus). The primary cause of excessive iron storage in humans is hereditary hemochromatosis. Most human hereditary hemochromatosis cases (up to 90%) are caused by a point mutation in the hfe gene, resulting in a C282Y substitution leading to iron accumulation. To evaluate the possibility of a hereditary hemochromatosis-like genetic predisposition in dolphins, we sequenced the bottlenose dolphin hfe gene, using reverse transcriptase-PCR and hfe primers designed from the dolphin genome, from liver of affected and healthy control dolphins. Sample size included two case animals and five control animals. Although isotype diversity was evident, no coding differences were identified in the hfe gene between any of the animals examined. Because our sample size was small, we cannot exclude the possibility that hemochromatosis in dolphins is due to a coding mutation in the hfe gene. Other potential causes of hemochromatosis, including mutations in different genes, diet, primary liver disease, and insulin resistance, should be evaluated.

  2. HFE Gene Mutations and Iron Status in 100 Healthy Polish Children.

    Science.gov (United States)

    Kaczorowska-Hac, Barbara; Luszczyk, Marcin; Antosiewicz, Jedrzej; Ziolkowski, Wieslaw; Adamkiewicz-Drozynska, Elzbieta; Mysliwiec, Malgorzata; Milosz, Ewa; Kaczor, Jan J

    2017-07-01

    Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status. The wild-type HFE gene was predominant being observed in 60 children (60%). Twenty-five children (25%), presented with heterozygotic H63D mutation, and 15 children (15%), presented with other mutations (heterozygotic C282Y and S65C mutation, compound heterozygotes C282Y/S65C, C282Y/H63D, H63D homozygote). The mean concentration of iron, the level of ferritin, and transferrin saturation were statistically higher in the group of HFE variants compared with the wild-type group. H63D carriers presented with higher mean concentration of iron, ferritin levels, and transferrin saturation compared with the wild-type group. Male HFE carriers presented with higher iron concentration, transferrin saturation, and ferritin levels than females. This preliminary investigation demonstrates allelic impact on potential disease progression from childhood.

  3. Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Praline, Julien; Blasco, Hélène; Vourc'h, Patrick; Rat, Valérian; Gendrot, Chantal; Camu, William; Andres, Christian R

    2012-06-15

    Our objective was to investigate whether the C282Y (p.Cys 282 Tyr) and H63D (p. His 63 Asp) HFE polymorphisms were associated with sporadic amyotrophic lateral sclerosis (SALS) in the French population. We searched for a relation of HFE polymorphisms with the clinical characteristics of the disease. The HFE polymorphisms were studied in 824 patients with SALS and 583 controls. We compared the frequency of the polymorphisms between SALS and controls groups by univariate and multivariate statistics, taking into account gender, site, age-at-onset and survival. We did not observe significant difference in the frequency of H63D polymorphism between SALS and control group. We observed a significant difference for C282Y between patients and controls with a low frequency of the Y allele in patients (3.2%) compared to our control group (5.9%). Disease duration, distribution of gender, site-of-onset, age-at-onset did not differ between groups taking into account genotypes of each polymorphism. Our results in this large cohort of ALS patients indicate that H63D polymorphism is not associated with SALS in the French population. This conclusion does not exclude a weak effect of the HFE gene polymorphisms in certain ALS populations, or an effect of other rare HFE gene variants. Copyright © 2012 Elsevier B.V. All rights reserved.

  4. Brain transcriptome perturbations in the Hfe(-/-) mouse model of genetic iron loading.

    Science.gov (United States)

    Johnstone, Daniel; Graham, Ross M; Trinder, Debbie; Delima, Roheeth D; Riveros, Carlos; Olynyk, John K; Scott, Rodney J; Moscato, Pablo; Milward, Elizabeth A

    2012-04-11

    Severe disruption of brain iron homeostasis can cause fatal neurodegenerative disease, however debate surrounds the neurologic effects of milder, more common iron loading disorders such as hereditary hemochromatosis, which is usually caused by loss-of-function polymorphisms in the HFE gene. There is evidence from both human and animal studies that HFE gene variants may affect brain function and modify risks of brain disease. To investigate how disruption of HFE influences brain transcript levels, we used microarray and real-time reverse transcription polymerase chain reaction to assess the brain transcriptome in Hfe(-/-) mice relative to wildtype AKR controls (age 10 weeks, n≥4/group). The Hfe(-/-) mouse brain showed numerous significant changes in transcript levels (pgenes relating to transcriptional regulation (FBJ osteosarcoma oncogene Fos, early growth response genes), neurotransmission (glutamate NMDA receptor Grin1, GABA receptor Gabbr1) and synaptic plasticity and memory (calcium/calmodulin-dependent protein kinase IIα Camk2a). As previously reported for dietary iron-supplemented mice, there were altered levels of transcripts for genes linked to neuronal ceroid lipofuscinosis, a disease characterized by excessive lipofuscin deposition. Labile iron is known to enhance lipofuscin generation which may accelerate brain aging. The findings provide evidence that iron loading disorders can considerably perturb levels of transcripts for genes essential for normal brain function and may help explain some of the neurologic signs and symptoms reported in hemochromatosis patients. Copyright © 2012 Elsevier B.V. All rights reserved.

  5. DETEKSI GEN-GEN PENYANDI FAKTOR VIRULENSI PADA BAKTERI VIBRIO

    Directory of Open Access Journals (Sweden)

    Ince Ayu Khairani Kadriah

    2011-04-01

    menggunakan isolat bakteri yang diisolasi dari budidaya udang windu di berbagai daerah di Sulawesi Selatan dan Jawa. Pada penelitian ini digunakan primer spesifik untuk mendeteksi gen-gen virulen toxR gene, hemolysin (vvh gene, dan GyrB gene dengan metode PCR. Dari 35 isolat yang diisolasi, 20 isolat terdeteksi memiliki gen virulensi dan 8 di antaranya memiliki dua gen virulen. Spesies bakteri yang memiliki gen virulen adalah: V.harveyi, V. parahaemolyticus, V. mimicus, dan V. campbelli

  6. Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.

    Science.gov (United States)

    Hamdi-Rozé, Houda; Beaumont-Epinette, Marie-Pascale; Ben Ali, Zeineb; Le Lan, Caroline; Loustaud-Ratti, Véronique; Causse, Xavier; Loreal, Olivier; Deugnier, Yves; Brissot, Pierre; Jouanolle, Anne-Marie; Bardou-Jacquet, Edouard

    2016-12-01

    p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were studied. Sequencing was performed for coding region and intronic flanking sequences of HFE, HAMP, HFE2, TFR2, and SLC40A1. Nine private HFE variants were identified in 13 of 206 unrelated patients. Among those, five have not been previously described: p.Leu270Argfs*4, p.Ala271Valfs*25, p.Tyr52*, p.Lys166Asn, and p.Asp141Tyr. Our results show that rare HFE variants are identified more frequently than variants in the other genes associated with iron overload. Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients. Am. J. Hematol. 91:1202-1205, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  7. Justicia y genética: compensando las diferencias

    Directory of Open Access Journals (Sweden)

    Alejandra Zúñiga-Fajuri

    2013-01-01

    Full Text Available Se analizan los dilemas morales asociados a los avances científicos que en la actualidad nos exigen repensar el concepto de igualdad equitativa de oportunidades. Asimismo, se pasa revista a la discusión filosófica en torno al origen de las desventajas sociales y genéticas que permiten las desigualdades sociales.

  8. An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemia.

    Science.gov (United States)

    Davis, Charronne F; Dorak, M Tevfik

    2010-04-01

    The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lymphoblastic leukemia (ALL) in Welsh and Scottish case-control studies. This finding has not been replicated outside Britain. Here, we present a thorough analysis of the HFE gene in a panel of HLA homozygous reference cell lines and in the original population sample from South Wales (117 childhood ALL cases and 414 newborn controls). The 21 of 24 variants analyzed were from the HFE gene region extending 52 kb from the histone gene HIST1H1C to HIST1H1T. We identified the single-nucleotide polymorphism (SNP) rs807212 as a tagging SNP for the most common HFE region haplotype, which contains wild-type alleles of all HFE variants examined. This intergenic SNP rs807212 yielded a strong male-specific protective association (per allele OR = 0.38, 95% CI = 0.22-0.64, P (trend) = 0.0002; P = 0.48 in females), which accounted for the original C282Y risk association. In the HapMap project data, rs807212 was in strong linkage disequilibrium with 25 other SNPs spanning 151 kb around HFE. Minor alleles of these 26 SNPs characterized the most common haplotype for the HFE region, which lacked all disease-associated HFE variants. The HapMap data suggested positive selection in this region even in populations where the HFE C282Y mutation is absent. These results have implications for the sex-specific associations observed in this region and suggest the inclusion of rs807212 in future studies of the HFE gene and the extended HLA class I region.

  9. C282Y polymorphism in the HFE gene is associated with risk of breast cancer.

    Science.gov (United States)

    Liu, Xiaoyan; Lv, Chunlei; Luan, Xiaorong; Lv, Ming

    2013-10-01

    The C282Y and H63D polymorphisms in the HFE gene have been implicated in susceptibility of breast cancer, but a number of studies have reported inconclusive results. The aim of this study is to investigate the association between the C282Y and H63D polymorphisms in the HFE gene and breast cancer risk by meta-analysis. We searched PubMed and Embase databases, covering all related studies until March 2, 2013. Statistical analysis was performed using STATA 10.0. A total of 7 studies including 1,720 cases and 18,296 controls for HFE C282Y polymorphism and 5 studies including 942 cases and 1,571 controls for HFE H63D polymorphism were included in the meta-analysis. The results showed that HFE C282Y polymorphism was significantly associated with increased risk of breast cancer under homozygotes vs. wild-type model (OR = 2.06, 95%CI = 1.19-3.58) and recessive model (OR = 1.98, 95%CI = 1.14-3.44) but not under heterozygotes vs. wild-type model (OR = 0.97, 95%CI = 0.70-1.35), dominant model (OR = 1.00, 95%CI = 0.72-1.40) and multiplicative model (OR = 1.04, 95%CI = 0.76-1.42). However, we did not find any association between HFE H63D polymorphism and breast cancer risk under all genetic models. This current meta-analysis suggested that C282Y polymorphism rather than H63D might be associated with increased risk of breast cancer.

  10. Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption.

    Science.gov (United States)

    Ye, Kaixiong; Cao, Chang; Lin, Xu; O'Brien, Kimberly O; Gu, Zhenglong

    2015-06-10

    HFE, a major regulator of iron (Fe) homeostasis, has been suggested to be under positive selection in both European and Asian populations. While the genetic variant under selection in Europeans (a non-synonymous mutation, C282Y) has been relatively well-studied, the adaptive variant in Asians and its functional consequences are still unknown. Identifying the adaptive HFE variants in Asians will not only elucidate the evolutionary history and the genetic basis of population difference in Fe status, but also assist the future practice of genome-informed dietary recommendation. Using data from the International HapMap Project, we confirmed the signatures of positive selection on HFE in Asian populations and identified a candidate adaptive haplotype that is common in Asians (52.35-54.71%) but rare in Europeans (5.98%) and Africans (4.35%). The T allele at tag SNP rs9366637 (C/T) captured 95.8% of this Asian-common haplotype. A significantly reduced HFE expression was observed in individuals carrying T/T at rs9366637 compared to C/C and C/T, indicating a possible role of gene regulation in adaptation. We recruited 57 women of Asian descent and measured Fe absorption using stable isotopes in those homozygous at rs9366637. We observed a 22% higher absorption in women homozygous for the Asian-common haplotype (T/T) compared to the control genotype (C/C). Additionally, compared with a group of age-matched Caucasian women, Asian women exhibited significantly elevated Fe absorption. Our results indicate parallel adaptation of HFE gene in Europeans and Asians with different genetic variants. Moreover, natural selection on HFE may have contributed to elevated Fe absorption in Asians. This study regarding population differences in Fe homeostasis has significant medical impact as high Fe level has been linked to an increased disease risk of metabolic syndromes.

  11. Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age.

    Science.gov (United States)

    Shi, Zumin; Johnstone, Daniel; Talseth-Palmer, Bente A; Evans, Tiffany-Jane; Spigelman, Allan D; Groombridge, Claire; Milward, Elizabeth A; Olynyk, John K; Suchy, Janina; Kurzawski, Grzegorz; Lubinski, Jan; Scott, Rodney J

    2009-07-01

    Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by germline mutations in DNA mismatch repair genes; however, variation in disease expression suggests that there are potential modifying factors. Polymorphisms of the HFE gene, which cause the iron overload disorder hereditary haemochromatosis, have been proposed as potential risk factors for the development of colorectal cancer (CRC). To understand the relationship between HNPCC disease phenotype and polymorphisms of the HFE gene, a total of 362 individuals from Australia and Poland with confirmed causative MMR gene mutations were genotyped for the HFE C282Y and H63D polymorphisms. A significantly increased risk of developing CRC was observed for H63D homozygotes when compared with combined wild-type homozygotes and heterozygotes (hazard ratio = 2.93, p = 0.007). Evidence for earlier CRC onset was also observed in H63D homozygotes with a median age of onset 6 years earlier than wild type or heterozygous participants (44 vs. 50 years of age). This effect was significant by all tests used (log-rank test p = 0.026, Wilcoxon p = 0.044, Tarone-Ware p = 0.035). No association was identified for heterozygosity of either polymorphism and limitations on power-prevented investigation of C282Y homozygosity or compound C282Y/H63D heterozygosity. In the Australian sample only, women had a significantly reduced risk of developing CRC when compared with men (hazard ratio = 0.58, p = 0.012) independent of HFE genotype for either single nucleotide polymorphisms. In conclusion, homozygosity for the HFE H63D polymorphism seems to be a genetic modifier of disease expression in HNPCC. Understanding the mechanisms by which HFE interrelates with colorectal malignancies could lead to reduction of disease risk in HNPCC.

  12. Hereditary Hemochromatosis (HFE genotypes in heart failure: Relation to etiology and prognosis

    Directory of Open Access Journals (Sweden)

    Torp-Pedersen Christian

    2010-07-01

    Full Text Available Abstract Background It is believed that hereditary hemochromatosis (HH might play a role in cardiac disease (heart failure (HF and ischemia. Mutations within several genes are HH-associated, the most common being the HFE gene. In a large cohort of HF patients, we sought to determine the etiological role and the prognostic significance of HFE genotypes. Methods We studied 667 HF patients (72.7% men with depressed systolic function, enrolled in a multicentre trial with a follow-up period of up to 5 years. All were genotyped for the known HFE variants C282Y, H63D and S65C. Results The genotype and allele frequencies in the HF group were similar to the frequencies determined in the general Danish population. In multivariable analysis mortality was not predicted by C282Y-carrier status (HR 1.2, 95% CI: 0.8-1.7; H63D-carrier status (HR 1.0, 95% CI: 0.7-1.3; nor S65C-carrier status (HR 1.2, 95% CI: 0.7-2.0. We identified 27 (4.1% homozygous or compound heterozygous carriers of HFE variants. None of these carriers had a clinical presentation suggesting hemochromatosis, but hemoglobin and ferritin levels were higher than in the rest of the cohort. Furthermore, a trend towards reduced mortality was seen in this group in univariate analyses (HR 0.4, 95% CI: 0.2-0.9, p = 0.03, but not in multivariate (HR 0.5, 95% CI: 0.2-1.2. Conclusion HFE genotypes do not seem to be a significant contributor to the etiology of heart failure in Denmark. HFE variants do not affect mortality in HF.

  13. The expression of the soluble HFE corresponding transcript is up-regulated by intracellular iron and inhibits iron absorption in a duodenal cell model

    OpenAIRE

    Silva, Bruno; Ferreira, Joana; Santos, Vera; Baldaia, Cilénia; Serejo, Fátima; Faustino, Paula

    2014-01-01

    Background and aims: Dietary iron absorption regulation is a key-step for the maintenance of body iron homeostasis. Besides the HFE full-length protein, the HFE gene codes for alternative splicing variants responsible for the synthesis of a soluble form of HFE protein (sHFE). Here we aimed to determine whether sHFE transcript levels respond to different iron conditions in duodenal, macrophage and hepatic cell models, as well, in vivo, in the liver. Furthermore, we determined the functional ef...

  14. An Excel Macro to Plot the HFE-Diagram to Identify Sea Water Intrusion Phases.

    Science.gov (United States)

    Giménez-Forcada, Elena; Sánchez San Román, F Javier

    2015-01-01

    A hydrochemical facies evolution diagram (HFE-D) is a multirectangular diagram, which is a useful tool in the interpretation of sea water intrusion processes. This method note describes a simple method for generating an HFE-D plot using the spreadsheet software package, Microsoft Excel. The code was applied to groundwater from the alluvial coastal plain of Grosseto (Tuscany, Italy), which is characterized by a complex salinization process in which sea water mixes with sulfate or bicarbonate recharge water. © 2014, National GroundWater Association.

  15. Heat transfer and entropy generation analysis of HFE 7000 based nanorefrigerants

    OpenAIRE

    Helvaci, H.; Khan, Zulfiqar Ahmad

    2017-01-01

    In this study, two dimensional numerical simulations of forced convection flow of HFE 7000 based nanofluids in a horizontal circular tube subjected to a constant and uniform heat flux in laminar flow was performed by using single phase homogeneous model. Four different nanofluids considered in the present study are Al2O3, CuO, SiO2 and MgO nanoparticles dispersed in pure HFE 7000. The simulations were performed with particle volumetric concentrations of 0, 1, 4 and 6% and Reynolds number of 4...

  16. GenBank.

    OpenAIRE

    Benson, D; Lipman, D J; Ostell, J

    1993-01-01

    The GenBank sequence database has undergone an expansion in data coverage, annotation content and the development of new services for the scientific community. In addition to nucleotide sequences, data from the major protein sequence and structural databases, and from U.S. and European patents is now included in an integrated system. MEDLINE abstracts from published articles describing the sequences provide an important new source of biological annotation for sequence entries. In addition to ...

  17. Reduced white matter MRI transverse relaxation rate in cognitively normal H63D-HFE human carriers and H67D-HFE mice.

    Science.gov (United States)

    Meadowcroft, Mark D; Wang, Jianli; Purnell, Carson J; Peters, Douglas G; Eslinger, Paul J; Neely, Elizabeth B; Gill, David J; Vasavada, Megha; Ali-Rahmani, Fatima; Yang, Qing X; Connor, James R

    2016-12-01

    Mutations within the HFE protein gene sequence have been associated with increased risk of developing a number of neurodegenerative disorders. To this effect, an animal model has been created which incorporates the mouse homologue to the human H63D-HFE mutation: the H67D-HFE knock-in mouse. These mice exhibit alterations in iron management proteins, have increased neuronal oxidative stress, and a disruption in cholesterol regulation. However, it remains undetermined how these differences translate to human H63D carriers in regards to white matter (WM) integrity. To this endeavor, MRI transverse relaxation rate (R 2 ) parametrics were employed to test the hypothesis that WM alterations are present in H63D human carriers and are recapitulated in the H67D mice. H63D carriers exhibit widespread reductions in brain R 2 compared to non-carriers within white matter association fibers in the brain. Similar R 2 decreases within white matter tracts were observed in the H67D mouse brain. Additionally, an exacerbation of age-related R 2 decrease is found in the H67D animal model in white matter regions of interest. The decrease in R 2 within white matter tracts of both species is speculated to be multifaceted. The R 2 changes are hypothesized to be due to alterations in axonal biochemical tissue composition. The R 2 changes observed in both the human-H63D and mouse-H67D data suggest that modified white matter myelination is occurring in subjects with HFE mutations, potentially increasing vulnerability to neurodegenerative disorders.

  18. La genética de las poblaciones centroamericanas

    OpenAIRE

    Barrantes, Ramiro

    2005-01-01

    Las poblaciones centroamericanas no han sido objeto de muchos estudios genéticos con la excepción de análisis esporádicos de la variación entre y dentro de los grupos amerindios y de origen africano ubicados en el área. No obstante, en los últimos 15 años se efectuaron investigaciones sistemáticas en este sentido incluyendo poblaciones mestizas, particularmente las de Costa Rica y Panamá. En los amerindios se efectuaron estudios detallados de su estructura genética y las relaciones filogenéti...

  19. The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.

    Science.gov (United States)

    Reuben, Alexandre; Chung, Jacqueline W; Lapointe, Réjean; Santos, Manuela M

    2017-09-01

    Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation. Here, we present a comprehensive overview of the relationship between iron metabolism, HFE, and the immune system to better understand the origin and cause of immune defects in HH patients. We further describe the role of HFE in MHC I antigen presentation and its potential to impair autoimmune responses in homeostatic conditions, a mechanism which may be exploited by tumors to evade immune surveillance. Overall, this increased understanding of the role of HFE in the immune response sets the stage for better treatment and management of HH and other iron-related diseases, as well as of the immune defects related to this condition. © 2017 The Authors. Immunity, Inflammation and Disease Published by John Wiley & Sons Ltd.

  20. Association of HFE gene mutations with nonalcoholic fatty liver disease in the Iranian population.

    Science.gov (United States)

    Saremi, L; Lotfipanah, S; Mohammadi, M; Hosseinzadeh, H; Sayad, A; Saltanatpour, Z

    2016-10-31

    To determine whether the HFE gene variants H63D and C282Y are associated with NAFLD in persons with type 2 diabetes, we conducted a case-control study including 145 case of NAFLD patients with a history of type 2 diabetes and 145 matching control. The genomic DNA was extracted from the peripheral venous blood and the genotyping of HFE gene mutations was analyzed using the PCR-RFLP technique. Statistical analysis was performed using SPSS 12.0 software by χ2 test, t test and ANOVA (P<0.05). Data showed no increased frequency of HFE mutations in persons with type 2 diabetes and no association between H63D mutation and NAFLD in the study population. Also, we analyzed index of physiological variables including FBS, lipid profile (TC, TG, LDL-C, and HDL-C), BMI, HbA1c, and micro albuminuria and Cr levels). Data showed there are no relationship between these indexes and HFE gene mutations and either NAFLD as a complication of diabetes. But our results showed a relationship between C282Y mutation and NAFLD in persons with type 2 diabetes. C282Y mutation might be a genetic marker of NAFLD in Iranian population.

  1. A family with hereditary hemochromatosis carrying HFE gene splice site mutation: a case report

    Directory of Open Access Journals (Sweden)

    NING Huibin

    2017-01-01

    Full Text Available ObjectiveTo investigate a new type of HFE gene mutation in a family with hereditary hemochromatosis (HH. MethodsThe analysis of HFE gene was performed for one patient with a confirmed diagnosis of HH and five relatives. Blood genomic DNA was extracted and PCR multiplication was performed for the exon and intron splice sequences of related HFE, HJV, HAMP, transferrin receptor 2 (TfR2, and SLC40A1 genes. After agarose gel electrophoresis and purification, bi-directional direct sequencing was performed to detect mutation sites. ResultsThe proband had abnormal liver function and increases in serum iron, total iron binding capacity, serum ferritin, and transferrin saturation, as well as T→C homozygous mutation in the fourth base of intron 2 in the intervening sequence of the exon EXON2 of HFE gene (IVs 2+4T→C, C/C homozygous, splicing, abnormal. There were no abnormalities in HJV, HAMP, TfR2, and SLC40A1 genes. The proband′s son had the same homozygous mutation, three relatives had heterozygous mutations, and one relative had no abnormal mutations. ConclusionGene detection plays an important role in the diagnosis of hemochromatosis, and IVs 2+4T→C mutation may be a new pathogenic mutation for HH in China.

  2. A role for sex and a common HFE gene variant in brain iron uptake.

    Science.gov (United States)

    Duck, Kari A; Neely, Elizabeth B; Simpson, Ian A; Connor, James R

    2018-03-01

    HFE (high iron) is an essential protein for regulating iron transport into cells. Mutations of the HFE gene result in loss of this regulation causing accumulation of iron within the cell. The mutated protein has been found increasingly in numerous neurodegenerative disorders in which increased levels of iron in the brain are reported. Additionally, evidence that these mutations are associated with elevated brain iron challenges the paradigm that the brain is protected by the blood-brain barrier. While much has been studied regarding the role of HFE in cellular iron uptake, it has remained unclear what role the protein plays in the transport of iron into the brain. We investigated regulation of iron transport into the brain using a mouse model with a mutation in the HFE gene. We demonstrated that the rate of radiolabeled iron ( 59 Fe) uptake was similar between the two genotypes despite higher brain iron concentrations in the mutant. However, there were significant differences in iron uptake between males and females regardless of genotype. These data indicate that brain iron status is consistently maintained and tightly regulated at the level of the blood-brain barrier.

  3. HFE p.C282Y gene variant is associated with varicose veins in Russian population.

    Science.gov (United States)

    Sokolova, Ekaterina A; Shadrina, Alexandra S; Sevost'ianova, Kseniya S; Shevela, Andrey I; Soldatsky, Evgenii Yu; Seliverstov, Evgenii I; Demekhova, Marina Yu; Shonov, Oleg A; Ilyukhin, Evgenii A; Smetanina, Mariya A; Voronina, Elena N; Zolotukhin, Igor A; Filipenko, Maxim L

    2016-08-01

    Recently, the association of polymorphism rs1800562 (p.C282Y) in the hemochromatosis (HFE) gene with the increased risk of venous ulceration was shown. We hypothesized that HFE gene polymorphism might be involved not only in ulceration process, but also in susceptibility to primary varicose veins. We genotyped HFE p.C282Y (rs1800562) and p.H63D (rs1799945) variants in patients with primary varicose veins (n = 463) and in the control group (n = 754). In our study, p.282Y variant (rs1800562 A allele) was significantly associated with the risk of varicose veins (OR 1.79, 95 % CI = 1.11-2.89, P = 0.02). A borderline significant reverse association of p.63D variant (rs1799945 G allele) with venous leg ulcer development was revealed in Russians (OR 0.25, 95 % CI = 0.06-1.00, P = 0.05), but not in the meta-analysis (P = 0.56). We conclude that the HFE gene polymorphism can affect the risk of developing primary varicose veins.

  4. HFE p.H63D polymorphism does not influence ALS phenotype and survival.

    Science.gov (United States)

    Chiò, Adriano; Mora, Gabriele; Sabatelli, Mario; Caponnetto, Claudia; Lunetta, Christian; Traynor, Bryan J; Johnson, Janel O; Nalls, Mike A; Calvo, Andrea; Moglia, Cristina; Borghero, Giuseppe; Monsurrò, Maria Rosaria; La Bella, Vincenzo; Volanti, Paolo; Simone, Isabella; Salvi, Fabrizio; Logullo, Francesco O; Nilo, Riva; Giannini, Fabio; Mandrioli, Jessica; Tanel, Raffaella; Murru, Maria Rita; Mandich, Paola; Zollino, Marcella; Conforti, Francesca L; Penco, Silvana; Brunetti, Maura; Barberis, Marco; Restagno, Gabriella

    2015-10-01

    It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significantly differ by age at onset, site of onset of symptoms, and survival; however, in SOD1 patients with CG or GG polymorphism had a significantly longer survival than those with a CC polymorphism. Differently from what observed in the mouse model of ALS, the HFE p.His63Asp polymorphism has no effect on ALS phenotype in this large series of Italian ALS patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. HFE C282Y/H63D Compound Heterozygotes Are at Low Risk of Hemochromatosis-Related Morbidity

    OpenAIRE

    Gurrin, Lyle C.; Bertalli, Nadine A.; Dalton, Gregory W.; Osborne, Nicholas J.; Constantine, Clare C.; McLaren, Christine E.; English, Dallas R.; Gertig, Dorota M.; Delatycki, Martin B.; Nicoll, Amanda J.; Southey, Melissa C.; Hopper, John L.; Giles, Graham G.; Anderson, Gregory J.; Olynyk, John K.

    2009-01-01

    The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, complete...

  6. Iron overload and HFE gene mutations in Polish patients with liver cirrhosis.

    Science.gov (United States)

    Sikorska, Katarzyna; Romanowski, Tomasz; Stalke, Piotr; Iżycka-Świeszewska, Ewa; Bielawski, Krzysztof Piotr

    2011-06-01

    Increased liver iron stores may contribute to the progression of liver injury and fibrosis, and are associated with a higher risk of hepatocellular carcinoma development. Pre-transplant symptoms of iron overload in patients with liver cirrhosis are associated with higher risk of infectious and malignant complications in liver transplant recipients. HFE gene mutations may be involved in the pathogenesis of liver iron overload and influence the progression of chronic liver diseases of different origins. This study was designed to determine the prevalence of iron overload in relation to HFE gene mutations among Polish patients with liver cirrhosis. Sixty-one patients with liver cirrhosis included in the study were compared with a control group of 42 consecutive patients subjected to liver biopsy because of chronic liver diseases. Liver function tests and serum iron markers were assessed in both groups. All patients were screened for HFE mutations (C282Y, H63D, S65C). Thirty-six of 61 patients from the study group and all controls had liver biopsy performed with semiquantitative assessment of iron deposits in hepatocytes. The biochemical markers of iron overload and iron deposits in the liver were detected with a higher frequency (70% and 47% respectively) in patients with liver cirrhosis. There were no differences in the prevalence of all HFE mutations in both groups. In patients with a diagnosis of hepatocellular carcinoma, no significant associations with iron disorders and HFE gene mutations were found. Iron disorders were detected in patients with liver cirrhosis frequently but without significant association with HFE gene mutations. Only the homozygous C282Y mutation seems to occur more frequently in the selected population of patients with liver cirrhosis. As elevated biochemical iron indices accompanied liver iron deposits more frequently in liver cirrhosis compared to controls with chronic liver disease, there is a need for more extensive studies searching for

  7. Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload

    Directory of Open Access Journals (Sweden)

    Rodolfo Delfini Cançado

    Full Text Available CONTEXT AND OBJECTIVE: Hemochromatosis is a common inherited disorder of iron metabolism and one of the most important causes of iron overload. The objective was to analyze the presence of C282Y, H63D and S65C mutations in the HFE gene and HLA-A alleles for a group of Brazilian patients with iron overload, and to correlate genotype with clinical and laboratory variables. DESIGN AND SETTING: Prospective study, in Discipline of Hematology and Oncology, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo. METHODS: We studied 35 patients with iron overload seen at our outpatient unit between January 2001 and December 2003. Fasting levels of serum iron and ferritin, and total iron-binding capacity, were assayed using standard techniques. Determinations of C282Y, H63D and S65C mutations in the HFE gene and of HLA-A alleles were performed by polymerase chain reaction (PCR. RESULTS: Twenty-six out of 35 patients (74% presented at least one of the HFE gene mutations analyzed. Among these, five (14% were C282Y/C282Y, four (11% C282Y/H63D, one (3% H63D/H63D, six (17% C282Y/WT and ten (29% H63D/WT. No patients had the S65C mutation and nine (25% did not present any of the three HFE mutations. Four out of five patients with C282Y/C282Y genotype (80% and three out of four patients with C282Y/H63D genotype (75% were HLA A*03. CONCLUSION: Analysis of HFE gene mutations constitutes an important procedure in identifying patients with hereditary hemochromatosis, particularly for patients with iron overload.

  8. La genèse du concept de champ quantique

    Science.gov (United States)

    Darrigol, O.

    This is a historical study of the roots of a concept which has proved to be essential in modern particle physics : the concept of quantum field. The first steps were accomplished by two young theoreticians : Pascual Jordan quantized the free electromagnetic field in 1925 by means of the formal rules of the just discovered matrix mechanics, and Paul Dirac quantized the whole system charges + field in 1927. Using Dirac's equation for electrons (1928) and Jordan's idea of quantized matter waves (second quantization), Werner Heisenberg and Wolfgang Pauli provided in 1929-1930 an extension of Dirac's radiation theory and the proof of its relativistic invariance. Meanwhile Enrico Fermi discovered independently a more elegant and pedagogical formulation. To appreciate the degree of historical necessity of the quantization of fields, and the value of contemporaneous critics to this approach, it was necessary to investigate some of the history of the old radiation theory. We present the various arguments however provisional or naïve or wrong they could be in retrospect. So we hope to contribute to a more vivid picture of notions which, once deprived of their historical setting, might seem abstruse to the modern user. Nous présentons une étude historique des origines d'un concept devenu essentiel dans la physique moderne des particules : le concept de champ quantique. Deux jeunes théoriciens franchirent les premières étapes : Pascual Jordan quantifia le champ électromagnétique en 1925 grâce aux règles formelles de la mécanique des matrices naissante, et Paul Dirac quantifia le système complet charges + champ en 1927. Au moyen de l'équation de l'électron de Dirac (1928) et de l'idée de Jordan d'ondes de matière quantifiées (deuxième quantification), Werner Heisenberg et Wolfgang Pauli donnèrent en 1929-1930 une extension de la théorie du rayonnement de Dirac et la preuve de son invariance relativiste. Pendant ce temps Enrico Fermi découvrit indépendamment une formulation plus élégante et plus pédagogique. Pour apprécier le degré de nécessité historique de la quantification des champs et la valeur des critiques contemporaines à cette approche, nous avons dû analyser quelques points de l'histoire de l'ancienne théorie du rayonnement. Nous présentons les divers arguments quelque provisoires, naïfs ou faux qu'ils puissent sembler aujourd'hui. Ainsi nous espérons brosser un tableau plus vivant de notions menacées d'hermétisme si l'on oublie leurs fondements historiques.

  9. Mutant HFE H63D Protein Is Associated with Prolonged Endoplasmic Reticulum Stress and Increased Neuronal Vulnerability*

    Science.gov (United States)

    Liu, Yiting; Lee, Sang Y.; Neely, Elizabeth; Nandar, Wint; Moyo, Mthabisi; Simmons, Zachary; Connor, James R.

    2011-01-01

    A specific polymorphism in the hemochromatosis (HFE) gene, H63D, is over-represented in neurodegenerative disorders such as amyotrophic lateral sclerosis and Alzheimer disease. Mutations of HFE are best known as being associated with cellular iron overload, but the mechanism by which HFE H63D might increase the risk of neuron degeneration is unclear. Here, using an inducible expression cell model developed from a human neuronal cell line SH-SY5Y, we reported that the presence of the HFE H63D protein activated the unfolded protein response (UPR). This response was followed by a persistent endoplasmic reticulum (ER) stress, as the signals of UPR sensors attenuated and followed by up-regulation of caspase-3 cleavage and activity. Our in vitro findings were recapitulated in a transgenic mouse model carrying Hfe H67D, the mouse equivalent of the human H63D mutation. In this model, UPR activation was detected in the lumbar spinal cord at 6 months then declined at 12 months in association with increased caspase-3 cleavage. Moreover, upon the prolonged ER stress, the number of cells expressing HFE H63D in early apoptosis was increased moderately. Cell proliferation was decreased without increased cell death. Additionally, despite increased iron level in cells carrying HFE H63D, it appeared that ER stress was not responsive to the change of cellular iron status. Overall, our studies indicate that the HFE H63D mutant protein is associated with prolonged ER stress and chronically increased neuronal vulnerability. PMID:21349849

  10. A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.

    Science.gov (United States)

    Nandar, Wint; Neely, Elizabeth B; Unger, Erica; Connor, James R

    2013-06-01

    Because of the increasing evidence that H63D HFE polymorphism appears in higher frequency in neurodegenerative diseases, we evaluated the neurological consequences of H63D HFE in vivo using mice that carry H67D HFE (homologous to human H63D). Although total brain iron concentration did not change significantly in the H67D mice, brain iron management proteins expressions were altered significantly. The 6-month-old H67D mice had increased HFE and H-ferritin expression. At 12 months, H67D mice had increased H- and L-ferritin but decreased transferrin expression suggesting increased iron storage and decreased iron mobilization. Increased L-ferritin positive microglia in H67D mice suggests that microglia increase iron storage to maintain brain iron homeostasis. The 6-month-old H67D mice had increased levels of GFAP, increased oxidatively modified protein levels, and increased cystine/glutamate antiporter (xCT) and hemeoxygenase-1 (HO-1) expression indicating increased metabolic and oxidative stress. By 12 months, there was no longer increased astrogliosis or oxidative stress. The decrease in oxidative stress at 12 months could be related to an adaptive response by nuclear factor E2-related factor 2 (Nrf2) that regulates antioxidant enzymes expression and is increased in the H67D mice. These findings demonstrate that the H63D HFE impacts brain iron homeostasis, and promotes an environment of oxidative stress and induction of adaptive mechanisms. These data, along with literature reports on humans with HFE mutations provide the evidence to overturn the traditional paradigm that the brain is protected from HFE mutations. The H67D knock-in mouse can be used as a model to evaluate how the H63D HFE mutation contributes to neurodegenerative diseases. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene.

    Science.gov (United States)

    Hermine, Olivier; Dine, Gérard; Genty, Vincent; Marquet, Laurie-Anne; Fumagalli, Gabriela; Tafflet, Muriel; Guillem, Flavia; Van Lierde, Françoise; Rousseaux-Blanchi, Marie-Philippe; Palierne, Christian; Lapostolle, Jean-Claude; Cervetti, Jean-Pierre; Frey, Alain; Jouven, Xavier; Noirez, Philippe; Toussaint, Jean-François

    2015-12-01

    The HFE gene encodes a protein involved in iron homeostasis; individuals with mutations in both alleles develop hemochromatosis. 27% of the French population is heterozygous for mutations in this gene. We found that 80% of the French athletes who won international competitions in rowing, Nordic skiing and judo display mutations in one allele of HFE, thus demonstrating the existence of a favourable phenotype linked to this heterozygosity. Copyright © 2015. Published by Elsevier B.V.

  12. Programa nacional de prevención y consejería genética del retinoblastoma mediante detección de mutaciones en el gen rb.

    OpenAIRE

    Frayle, H.; Guevara, G.

    2011-01-01

    El retinoblastoma es un raro tumor ocular que se diagnostica en los niños, 40% de los casos se consideran hereditarios y 60% esporádicos. El modelo genético propuesto por Knudson involucra
    una la doble mutación inactivante del gen Rb, exclusivamente somática en los esporádicos y germinal más somática en los hereditarios. Esta investigacin tuvo como objetivo caracterizar las mutaciones en el gen Rb mediante secuenciación directa y evaluar su utilidad en la consejería genética....

  13. A systematic review of human factors and ergonomics (HFE)-based healthcare system redesign for quality of care and patient safety.

    Science.gov (United States)

    Xie, Anping; Carayon, Pascale

    2015-01-01

    Healthcare systems need to be redesigned to provide care that is safe, effective and efficient, and meets the multiple needs of patients. This systematic review examines how human factors and ergonomics (HFE) is applied to redesign healthcare work systems and processes and improve quality and safety of care. We identified 12 projects representing 23 studies and addressing different physical, cognitive and organisational HFE issues in a variety of healthcare systems and care settings. Some evidence exists for the effectiveness of HFE-based healthcare system redesign in improving process and outcome measures of quality and safety of care. We assessed risk of bias in 16 studies reporting the impact of HFE-based healthcare system redesign and found varying quality across studies. Future research should further assess the impact of HFE on quality and safety of care, and clearly define the mechanisms by which HFE-based system redesign can improve quality and safety of care.

  14. Sistema inmune y genética: un abordaje diferente a la diversidad de anticuerpos.

    OpenAIRE

    Matta Camacho, Nubia Estela

    2011-01-01

    RESUMEN Es común encontrar en los libros de inmunología o de genética un capítulo con el título de “sistema inmune y genética”, sin embargo su asociación se centra en cómo la generación de anticuerpos rompió el paradigma “un gen, una proteína”, pues en el caso de la producción de anticuerpos, un gen produce millones de proteínas. El sistema inmune tiene muchos vínculos con la genética y la herencia; esta asociación se da porque cualquier sustancia o compuesto que produzca un organi...

  15. Divergência, variabilidade genética e desempenho agronômico em genótipos de couve.

    OpenAIRE

    Azevedo, Alcinei Mistico

    2012-01-01

    Embora haja grande variabilidade genética para a couve, são poucos trabalhos no Brasil que visão obter informações para programas de melhoramento genético nesta cultura. Assim, objetivou-se neste trabalho caracterizar 30 genótipos de couve a partir de caracteres morfo-agronômicos para estimar a divergência genética, a importância dos caracteres para a divergência, o desempenho agronômico, os parâmetros genéticos e a correlação entre as características avaliadas. O experimento foi conduzido na...

  16. Polimorfismos del gen ob en bovinos de raza holstein en la Comarca Lagunera, México

    OpenAIRE

    Sarai S. Mendoza-Retana; Miguel A. Gallegos-Robles; Uriel González-Salas; José L. García-Hernández; Manuel Fortis-Hernández; Cirilo Vázquez-Vázquez; Héctor I. Trejo-Escareño

    2017-01-01

    La Comarca Lagunera es la cuenca lechera más importante de México. En la actualidad se están utilizando diversas técnicas que permiten evaluar genéticamente el animal a una edad temprana, permitiendo seleccionar futuros reproductores con características deseables. Entre los genes relacionados con la producción de leche, se encuentran el gen Ob también llamado gen Leptina el cual actúa sobre el sistema nervioso central y tejidos periféricos jugando un papel muy importante ...

  17. Computational Profiling of Deleterious Non-Synonymous SNP’s in HFE

    Directory of Open Access Journals (Sweden)

    S. Sarath Raj

    2017-12-01

    Full Text Available Liver cirrhosis describes a condition where scar tissue gradually replaces healthy cells in liver. The main causes are sustained, excessive alcohol consumption, viral hepatitis B and C, and fatty liver disease - however, there are other possible causes. Hemochromatosis is most common form of iron overload disease. Three types of hemochromatosis are primary hemochromatosis, also called hereditary hemochromatosis; secondary hemochromatosis; and neonatal hemochromatosis. The HFE gene helps regulate the amount of iron absorbed from food and inherited genetic defects or mutation in HFE [C282Y] cause primary hemochromatosis. Computational approach is sought to determine other similar mutations in this gene. In-silico tools such as SIFT, Polyphen 2.0, and PROVEAN were employed to determine the various deleterious ns-SNPs of HFE that may influence cystic fibrosis.

  18. Liver steatosis correlates with iron overload but not with HFE gene mutations in chronic hepatitis C.

    Science.gov (United States)

    Sikorska, Katarzyna; Stalke, Piotr; Romanowski, Tomasz; Rzepko, Robert; Bielawski, Krzysztof Piotr

    2013-08-01

    Liver steatosis and iron overload, which are frequently observed in chronic hepatitis C (CHC), may contribute to the progression of liver injury. This study aimed to evaluate the correlation between liver steatosis and iron overload in Polish patients with CHC compared to non-alcoholic fatty liver disease (NAFLD) and HFE-hereditary hemochromatosis (HH) patients. A total of 191 CHC patients were compared with 67 NAFLD and 21 HH patients. Liver function tests, serum markers of iron metabolism, cholesterol and triglycerides were assayed. The inflammatory activity, fibrosis, iron deposits and steatosis stages were assessed in liver specimens. HFE gene polymorphisms were investigated by PCR-RFLP. Liver steatosis was associated with obesity and diabetes mellitus. This disease was confirmed in 76/174 (44%) CHC patients, most of whom were infected with genotype 1. The average grade of steatosis was higher in NAFLD patients. CHC patients had significantly higher iron concentrations and transferrin saturations than NAFLD patients. Compared with CHC patients, HH patients had higher values of serum iron parameters and more intensive hepatocyte iron deposits without differences in the prevalence and intensity of liver steatosis. In the CHC group, lipids accumulation in hepatocytes was significantly associated with the presence of serum markers of iron overload. No correlation between the HFE gene polymorphism and liver steatosis in CHC patients was found. Liver steatosis was diagnosed in nearly half of CHC patients, most of whom were infected with genotype 1. The intensity of steatosis was lower in CHC patients than that in NAFLD patients because of a less frequent diagnosis of metabolic syndrome. Only in CHC patients were biochemical markers of iron accumulation positively correlated with liver steatosis; these findings were independent of HFE gene mutations.

  19. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

    Science.gov (United States)

    Del-Castillo-Rueda, Alejandro; Moreno-Carralero, María-Isabel; Cuadrado-Grande, Nuria; Alvarez-Sala-Walther, Luis-Antonio; Enríquez-de-Salamanca, Rafael; Méndez, Manuel; Morán-Jiménez, María-Josefa

    2012-10-15

    Hereditary hemochromatosis causes iron overload and is associated with a variety of genetic and phenotypic conditions. Early diagnosis is important so that effective treatment can be administered and the risk of tissue damage avoided. Most patients are homozygous for the c.845G>A (p.C282Y) mutation in the HFE gene; however, rare forms of genetic iron overload must be diagnosed using a specific genetic analysis. We studied the genotype of 5 patients who had hyperferritinemia and an iron overload phenotype, but not classic mutations in the HFE gene. Two patients were undergoing phlebotomy and had no iron overload, 1 with metabolic syndrome and no phlebotomy had mild iron overload, and 2 patients had severe iron overload despite phlebotomy. The patients' first-degree relatives also underwent the analysis. We found 5 not previously published mutations: c.-408_-406delCAA in HFE, c.1118G>A (p.G373D), c.1473G>A (p.E491E) and c.2085G>C (p.S695S) in TFR2; and c.-428_-427GG>TT in SLC40A1. Moreover, we found 3 previously published mutations: c.221C>T (p.R71X) in HFE; c.1127C>A (p.A376D) in TFR2; and c.539T>C (p.I180T) in SLC40A1. Four patients were double heterozygous or compound heterozygous for the mutations mentioned above, and the patient with metabolic syndrome was heterozygous for a mutation in the TFR2 gene. Our findings show that hereditary hemochromatosis is clinically and genetically heterogeneous and that acquired factors may modify or determine the phenotype. Copyright © 2012. Published by Elsevier B.V.

  20. Examination of HFE associations with childhood leukemia risk and extension to other iron regulatory genes.

    Science.gov (United States)

    Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, M Fatih; Scheurer, Michael E; Baum, Marianna K; Dorak, M Tevfik

    2014-09-01

    Hereditary hemochromatosis (HFE) variants correlating with body iron levels have shown associations with cancer risk, including childhood acute lymphoblastic leukemia (ALL). Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs1800562 and rs1799945), one transferrin receptor gene (TFRC) variant (rs3817672) and three additional iron regulatory gene (IRG) variants (SLC11A2 rs422982; TMPRSS6 rs855791 and rs733655) for their associations with childhood ALL. Being positive for either of the HFE variants yielded a modestly elevated odds ratio (OR) for childhood ALL risk in males (1.40, 95% CI=0.83-2.35), which increased to 2.96 (95% CI=1.29-6.80) in the presence of a particular TFRC genotype for rs3817672 (P interaction=0.04). The TFRC genotype also showed an ethnicity-specific association, with increased risk observed in non-Hispanic Whites (OR=2.54, 95% CI=1.05-6.12; P interaction with ethnicity=0.02). The three additional IRG SNPs all showed individual risk associations with childhood ALL in males (OR=1.52-2.60). A polygenic model based on the number of variant alleles in five IRG SNPs revealed a linear increase in risk among males with the increasing number of variants possessed (OR=2.0 per incremental change, 95% CI=1.29-3.12; P=0.002). Our results replicated previous HFE risk associations with childhood ALL in a US population and demonstrated novel associations for IRG SNPs, thereby strengthening the hypothesis that iron excess mediated by genetic variants contributes to childhood ALL risk. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data

    Directory of Open Access Journals (Sweden)

    Ka Chandran

    2005-06-01

    Full Text Available Abstract Background Hereditary hemochromatosis (HH is a common inherited disorder of iron metabolism in Northern European populations. The discovery of a candidate gene in 1996 (HFE, and of its main mutation (C282Y, has radically altered the way to diagnose this disease. The aim of this study was to assess the impact of the HFE gene discovery on the clinical presentation and epidemiology of HH. Methods We studied our cohort of 415 patients homozygous for the C282Y allele and included in a phlebotomy program in a blood centre in western Brittany, France. Results In this cohort, 56.9% of the patients were male and 21.9% began their phlebotomy program before the implementation of the genetic test. A significant decrease in the sex ratio was noticed following implementation of this DNA test, from 3.79 to 1.03 (p -5, meaning that the proportion of diagnosed females relatives to males greatly increased. The profile of HH patients at diagnosis changed after the DNA test became available. Serum ferritin and iron values were lower and there was a reduced frequency of clinical signs displayed at diagnosis, particularly skin pigmentation (20.1 vs. 40.4%, OR = 0.37, p Conclusion This study highlights the importance of the HFE gene discovery, which has simplified the diagnosis of HH and modified its clinical presentation and epidemiology. This study precisely measures these changes. Enhanced diagnosis of HFE-related HH at an early stage and implementation of phlebotomy treatment are anticipated to maintain normal life expectancy for these patients.

  2. Metabolic alterations, HFE gene mutations and atherogenic lipoprotein modifications in patients with primary iron overload.

    Science.gov (United States)

    Meroño, Tomás; Brites, Fernando; Dauteuille, Carolane; Lhomme, Marie; Menafra, Martín; Arteaga, Alejandra; Castro, Marcelo; Saez, María Soledad; Ballerga, Esteban González; Sorroche, Patricia; Rey, Jorge; Lesnik, Philippe; Sordá, Juan Andrés; Chapman, M John; Kontush, Anatol; Daruich, Jorge

    2015-05-01

    Iron overload (IO) has been associated with glucose metabolism alterations and increased risk of cardiovascular disease (CVD). Primary IO is associated with mutations in the HFE gene. To which extent HFE gene mutations and metabolic alterations contribute to the presence of atherogenic lipoprotein modifications in primary IO remains undetermined. The present study aimed to assess small, dense low-density lipoprotein (LDL) levels, chemical composition of LDL and high-density lipoprotein (HDL) particles, and HDL functionality in IO patients. Eighteen male patients with primary IO and 16 sex- and age-matched controls were recruited. HFE mutations (C282Y, H63D and S65C), measures of insulin sensitivity and secretion (calculated from the oral glucose tolerance test), chemical composition and distribution profile of LDL and HDL subfractions (isolated by gradient density ultracentrifugation) and HDL functionality (as cholesterol efflux and antioxidative activity) were studied. IO patients compared with controls exhibited insulin resistance (HOMA-IR (homoeostasis model assessment-estimated insulin resistance): +93%, PHFE genotypes. C282Y homozygotes (n=7) presented a reduced β-cell function and insulin secretion compared with non-C282Y patients (n=11) (-58% and -73%, respectively, PHFE gene mutations are involved in the presence of atherogenic lipoprotein modifications in primary IO. To what extent such alterations could account for an increase in CVD risk remains to be determined.

  3. A Mouse Model of Cardiomyopathy Induced by Mutations in the Hemochromatosis HFE Gene.

    Science.gov (United States)

    Djemai, Haidar; Thomasson, Rémi; Trzaskus, Yvan; Mougenot, Nathalie; Meziani, Amira; Toussaint, Jean-François; Noirez, Philippe; Vitiello, Damien

    2017-07-01

    The heart is 1 of the organs most affected by hereditary hemochromatosis (HH). The clinical impact of cardiomyopathy in patients with HH requires a particular diagnosis and less invasive treatments. We developed a model of cardiomyopathy in knockout (KO) mice for the high-Fe (HFE) gene and assessed left ventricular (LV) function and structure from 7-20 months. Male wild-type (WT) heterozygous and KO SV129 mice for the HFE gene were used in this study. Twenty-four mice were used to assess LV function and structure by echocardiography at 7, 14, 18, and 20 months. Evaluations of LV function and structure and myocardial fibrosis were performed at 7 and 20 months. The percent decrease of LV thickness-to-radius ratio between 7 and 20 months was higher in KO mice compared with WT mice (-30.2% ± 5.3% vs -10.5% ± 4.9%; P HFE-related hemochromatosis. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  4. Discusión: Explicaciones genéticas y psicológicas de la esquizofrenia.Genética de la esperanza

    Directory of Open Access Journals (Sweden)

    Silvio Bolaños-Salvatierra

    2003-01-01

    Full Text Available En este documento se rebaten críticas hechas por Raventós y Jensen al artículo “Genética y comportamiento”. Cuatro temas fueron seleccionados: 1 se determina que los antipsicóticos aparecieron veinte años después de la concepción hereditaria de la esquizofrenia; 2 se considera que la discusión es altamente pertinente, para nada bizantina o irrelevante, debido que persisten prácticas epistémicas riesgosas en los investigadores genético-conductuales; 3 aunque ninguna conducta humana está exenta de influencia constitucional, el enfoque biologicista se ha propasado al pretender explicar genéticamente casi todo, desconfirmando solapadamente la importancia de la historia personal; y, 4 se plantea que la investigación biológica sobrevalora el peso de las anomalías genéticas frente a la historia social, por lo que solo aparenta cautela. Se propone investigar genéticamente la esperanza con el objetivo de saturar a la humanidad con ese tipo de explicaciones, para alcanzar más rápido una convivencia basada en la tolerancia y el respeto.

  5. Iron regulation of hepcidin despite attenuated Smad1,5,8 signaling in mice without transferrin receptor 2 or Hfe

    Science.gov (United States)

    Corradini, Elena; Rozier, Molly; Meynard, Delphine; Odhiambo, Adam; Lin, Herbert Y.; Feng, Qi; Migas, Mary C.; Britton, Robert S.; Babitt, Jodie L.; Fleming, Robert E.

    2011-01-01

    Background & Aims HFE and transferrin receptor 2 (TFR2) are each necessary for the normal relationship between body iron status and liver hepcidin expression. In murine Hfe and Tfr2 knockout models of hereditary hemochromatosis (HH), signal transduction to hepcidin via the bone morphogenetic protein 6 (Bmp6)/Smad1,5,8 pathway is attenuated. We examined the effect of dietary iron on regulation of hepcidin expression via the Bmp6/Smad1,5,8 pathway using mice with targeted disruption of Tfr2, Hfe, or both genes. Methods Hepatic iron concentrations and mRNA expression of Bmp6 and hepcidin were compared with wild-type mice in each of the HH models on standard or iron-loading diets. Liver phospho-Smad (P-Smad)1,5,8 and Id1 mRNA levels were measured as markers of Bmp/Smad signaling. Results While Bmp6 expression was increased, liver hepcidin and Id1 expression were decreased in each of the HH models compared with wild-type mice. Each of the HH models also demonstrated attenuated P-Smad1,5,8 levels relative to liver iron status. Mice with combined Hfe/Tfr2 disruption were most affected. Dietary iron loading increased hepcidin and Id1 expression in each of the HH models. Compared with wild-type mice, HH mice demonstrated attenuated (Hfe knockout) or no increases in P-Smad1,5,8 levels in response to dietary iron loading. Conclusions These observations demonstrate that Tfr2 and Hfe are each required for normal signaling of iron status to hepcidin via Bmp6/Smad1,5,8 pathway. Mice with combined loss of Hfe and Tfr2 up-regulate hepcidin in response to dietary iron loading without increases in liver BMP6 mRNA or steady-state P-Smad1,5,8 levels. PMID:21745449

  6. Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.

    Science.gov (United States)

    Vieira, Fatima Mendonça Jorge; Nakhle, Maria Cristina; Abrantes-Lemos, Clarice Pires; Cançado, Eduardo Luiz Rachid; Reis, Vitor Manoel Silva dos

    2013-01-01

    Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date only one study has been conducted in Brazil. Investigation of porphyria cutanea tarda association with C282Y and H63D mutations in the HFE gene. Identification of precipitating factors (hepatitis C, HIV, alcoholism and estrogen) and their link with HFE mutations. An ambispective study of 60 patients with PCT was conducted during the period from 2003 to 2012. Serological tests for hepatitis C and HIV were performed and histories of alcohol abuse and estrogen intake were investigated. HFE mutations were identified with real-time PCR. Porphyria cutanea tarda predominated in males and alcohol abuse was the main precipitating factor. Estrogen intake was the sole precipitating factor present in 25% of female patients. Hepatitis C was present in 41.7%. All HIV-positive patients (15.3%) had a history of alcohol abuse. Allele frequency for HFE mutations, i.e., C282Y (p = 0.0001) and H63D (p = 0.0004), were significantly higher in porphyria cutanea tarda patients, compared to control group. HFE mutations had no association with the other precipitating factors. Alcohol abuse, hepatitis C and estrogen intake are prevalent precipitating factors in our porphyria cutanea tarda population; however, hemochromatosis in itself can also contribute to the outbreak of porphyria cutanea tarda, which makes the research for HFE mutations necessary in these patients.

  7. HFE gene variants modify the association between maternal lead burden and infant birthweight: a prospective birth cohort study in Mexico City, Mexico.

    Science.gov (United States)

    Cantonwine, David; Hu, Howard; Téllez-Rojo, Martha Maria; Sánchez, Brisa N; Lamadrid-Figueroa, Héctor; Ettinger, Adrienne S; Mercado-García, Adriana; Hernández-Avila, Mauricio; Wright, Robert O

    2010-07-26

    Neonatal growth is a complex process involving genetic and environmental factors. Polymorphisms in the hemochromatosis (HFE) iron regulatory genes have been shown to modify transport and toxicity of lead which is known to affect birth weight. We investigated the role of HFE C282Y, HFE H63 D, and transferrin (TF) P570 S gene variants in modifying the association of lead and infant birthweight in a cohort of Mexican mother-infant pairs. Subjects were initially recruited between 1994-1995 from three maternity hospitals in Mexico City and 411 infants/565 mothers had archived blood available for genotyping. Multiple linear regression models, stratified by either maternal/infant HFE or TF genotype and then combined with interaction terms, were constructed examining the association of lead and birthweight after controlling for covariates. 3.1%, 16.8% and 17.5% of infants (N=390) and 1.9%, 14.5% and 18.9% of mothers (N=533) carried the HFE C282Y, HFE H63D, and TF P570 S variants, respectively. The presence of infant HFE H63 D variants predicted 110.3 g (95% CI -216.1, -4.6) decreases in birthweight while maternal HFE H63 D variants predicted reductions of 52.0 g (95% CI -147.3 to 43.2). Interaction models suggest that both maternal and infant HFE H63 D genotype may modify tibia lead's effect on infant birthweight in opposing ways. In our interaction models, maternal HFE H63 D variant carriers had a negative association between tibia lead and birthweight. These results suggest that the HFE H63 D genotype modifies lead's effects on infant birthweight in a complex fashion that may reflect maternal-fetal interactions with respect to the metabolism and transport of metals.

  8. Prevalencia de bacterias Gram negativas portadoras del gen blaKPC en hospitales de Colombia

    OpenAIRE

    Robinson Pacheco; Lyda Osorio; Adriana M. Correa; Maria Virginia Villegas

    2014-01-01

    Introducción. Las enzimas carbapenemasas de tipo KPC tienen gran capacidad de diseminación, son causantes de epidemias y se asocian a mayor mortalidad y estancia hospitalaria. En Colombia se han venido reportando cada vez más desde 2007, pero se desconoce la prevalencia hospitalaria. Objetivo. Estimar la prevalencia hospitalaria del gen blaKPC. Materiales y métodos. Se evaluó la presencia del gen blaKPC y su ‘clonalidad’ en aislamientos de enterobacterias y Pseudomonas aeruginosa de p...

  9. Aspectos genéticos y neuroendocrinos en el trastorno del espectro autista

    OpenAIRE

    Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

    2015-01-01

    El autismo, hoy en día definido como trastornos del espectro autista, fue descrito inicialmente en 1943. Se caracteriza por alteraciones en la comunicación, la interacción social y un espectro restringido de intereses del paciente. Generalmente se identifica en etapas tempranas del desarrollo a partir de los 18 meses de edad. Actualmente el autismo se considera un desorden neurológico con un espectro que abarca diferentes grados que se asocian con factores genéticos, no genéticos y del medio ...

  10. Estructura y diversidad genética en vacas Holstein de Antioquia usando un polimorfismo del gen bGH

    Directory of Open Access Journals (Sweden)

    Juan Rincon F.

    2013-03-01

    Full Text Available Objetivo. Determinar las frecuencias alélicas y genotípicas del polimorfismo del intrón 3 del gen bGH y estimar algunos parámetros de estructura poblacional en ganado Holstein. Materiales y métodos. El estudio se realizó con 1366 vacas Holstein en 120 hatos de 11 municipios del departamento de Antioquia. Se extrajo DNA por el método de Salting out y la genotipificación se realizó usando la técnica de PCR-RFLPs. La diversidad genética se determinó mediante la comparación de las heterocigosidades, El equilibrio de Hardy-Weinberg (HW y la diferenciación genética entre las poblaciones se realizó usando el software Arlequín 2.0 Las frecuencias alélicas y genotípicas se evaluaron mediante el paquete estadístico SAS®. Resultados. Las frecuencias genotípicas encontradas fueron 0.764 (+/+, 0.223 (+/- y 0.013 (-/- y las frecuencias alélicas 0.876 (+ y 0.124 (-. No se encontraron desviaciones del Equilibrio de Hardy Weinberg en ninguna de las subpoblaciones. La diversidad genética determinada mediante la comparación de las heterocigosidades fue relativamente baja entre poblaciones pero al interior de estas no. El valor de FST de toda la población fue de 0.0068 y significativo (p<0.05, algunos FST pareados también lo fueron, tomando valores desde 0.0 a 0.13. Los estadísticos FIT y FIS no fueron significativos. Conclusiones. El gen bGH es un candidato interesante para evaluar características de importancia económica ya que no parece haber sido sometido a selección directa, presenta una variabilidad media en las poblaciones, observándose diferenciación genética significativa entre distintos municipios, producto de los diferentes sistemas de producción y acceso a las biotecnologías.

  11. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis.

    Science.gov (United States)

    Allen, Katrina J; Bertalli, Nadine A; Osborne, Nicholas J; Constantine, Clare C; Delatycki, Martin B; Nisselle, Amy E; Nicoll, Amanda J; Gertig, Dorota M; McLaren, Christine E; Giles, Graham G; Hopper, John L; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Gurrin, Lyle C

    2010-09-01

    Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is a genetic predisposition to iron overload and subsequent signs and symptoms of disease that potentially affects approximately 80,000 persons in Australia and almost 1 million persons in the United States. Most clinical cases are homozygous for the Cys282Tyr (C282Y) mutation in the HFE gene, with serum ferritin (SF) concentration >1000 microg/L as the strongest predictor of cirrhosis. The optimal treatment regimen for those with SF concentrations above the normal range but aged 40-69 years. An HFE-stratified random sample of 1438 participants including all C282Y homozygotes with iron studies 12 years apart were examined by physicians blinded to participants' HFE genotype. All previously undiagnosed C282Y homozygotes (35 male, 67 female) and all HFE wild-types (131 male, 160 female) with baseline and follow-up SF concentrations age when disease would be expected to have developed. These observations have implications for the management of C282Y homozygotes.

  12. Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the HFE Gene

    Directory of Open Access Journals (Sweden)

    Marcin Luszczyk

    2017-01-01

    Full Text Available Iron overload resulting from the mutation of genes involved in iron metabolism or excess dietary intake has been reported to negatively influence human physical performance. The aim of this study was to test the hypothesis that adolescents bearing a hemochromatosis gene (HFE mutation in contrast to adults with the same mutation will not experience iron accumulation and their aerobic capacity will be similar to that of age-matched controls. Thirteen boys participated in the study. Seven of them are carriers of H63D mutation in the HFE gene and six were wild type. Fitness levels were assessed using the cardiopulmonary exercise test. In addition, iron status and inflammatory markers were determined. We observed that cardiovascular fitness was significantly lower in the group bearing the HFE mutation compared to the control group. Moreover, the HFE mutation group achieved lower maximal power output compared to the control group. There were no differences in blood ferritin concentrations between the two groups which indicates similar amounts of stored iron. Obtained data do not confirm our hypothesis. On the contrary, it was demonstrated that HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.

  13. Serum hepcidin levels, iron status, and HFE gene alterations during the first year of life in healthy Spanish infants.

    Science.gov (United States)

    Aranda, Nuria; Bedmar, Cristina; Arija, Victoria; Jardí, Cristina; Jimenez-Feijoo, Rosa; Ferré, Natalia; Tous, Monica

    2018-06-01

    The aims of this study were to describe hepcidin levels and to assess their associations with iron status and the main variants in the HFE gene in healthy and full-term newborns during the first year of life, as a longitudinal study conducted on 140 infants. Anthropometric and biochemical parameters, hepcidin, hemoglobin (Hb), serum ferritin (SF), transferrin saturation (TS), mean corpuscular volume (MCV), and C-reactive protein (CRP), were assessed in 6- and 12-month-olds. Infants were genotyped for the three main HFE variants: C282Y, H63D, and S65C. Hepcidin levels increased from 6 to 12 months of age (43.7 ± 1.5 to 52.0 ± 1.5 ng/mL; p HFE gene (p = 0.046 and p = 0.048 in 6- and 12-month-olds, respectively). However, this association was not found in HFE-alteration-carrying infants. Hepcidin levels increased in healthy infants during the first year of life and were positively associated with iron levels only in infants with wild-type HFE gene, a situation that requires further investigation.

  14. Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort

    Directory of Open Access Journals (Sweden)

    Morgadinho Ana S

    2006-07-01

    Full Text Available Abstract Background Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD and Parkinson diseases (PD. Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886, and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results. Methods Genotypes were analysed for the two most common variants of HFE in a series of 130 AD, 55 Mild Cognitive Impairment (MCI and 132 PD patients. Additionally, a series of 115 healthy age-matched controls was also screened. Results A statistically significant association was found in the PD group when compared to controls, showing that the presence of the C282Y variant allele may confer higher risk for developing the disease. Conclusion Taken together these results suggest that the common variants in HFE may be a risk factor for PD, but not for AD in the Portuguese population.

  15. Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in the HFE Gene.

    Science.gov (United States)

    Luszczyk, Marcin; Kaczorowska-Hac, Barbara; Milosz, Ewa; Adamkiewicz-Drozynska, Elzbieta; Ziemann, Ewa; Laskowski, Radoslaw; Flis, Damian; Rokicka-Hebel, Magdalena; Antosiewicz, Jedrzej

    2017-01-01

    Iron overload resulting from the mutation of genes involved in iron metabolism or excess dietary intake has been reported to negatively influence human physical performance. The aim of this study was to test the hypothesis that adolescents bearing a hemochromatosis gene (HFE) mutation in contrast to adults with the same mutation will not experience iron accumulation and their aerobic capacity will be similar to that of age-matched controls. Thirteen boys participated in the study. Seven of them are carriers of H63D mutation in the HFE gene and six were wild type. Fitness levels were assessed using the cardiopulmonary exercise test. In addition, iron status and inflammatory markers were determined. We observed that cardiovascular fitness was significantly lower in the group bearing the HFE mutation compared to the control group. Moreover, the HFE mutation group achieved lower maximal power output compared to the control group. There were no differences in blood ferritin concentrations between the two groups which indicates similar amounts of stored iron. Obtained data do not confirm our hypothesis. On the contrary, it was demonstrated that HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.

  16. The Study of HFE Genotypes and Its Expression Effect on Iron Status of Iranian Haemochromatosis, Iron Deficiency Anemia Patients, Iron-Taker and Non Iron-Taker Controls.

    Science.gov (United States)

    Beiranvand, Elham; Abediankenari, Saeid; Rostamian, Mosayeb; Beiranvand, Behnoush; Naazeri, Saeed

    2015-01-01

    The role of HFE gene mutations or its expression in regulation of iron metabolism of hereditary haemochromatosis (HH) patients is remained controversial. Therefore here the correlation between two common HFE genotype (p.C282Y, p.H63D) and HFE gene expression with iron status in HH, iron deficiency anemia (IDA) and healthy Iranian participants was studied. For this purpose genotype determination was done by polymerase chain reaction--restriction fragment length polymorphism (PCR-RFLP). Real-Time PCR was applied for evaluation of HFE gene expression. Biochemical parameters and iron consumption were also assessed. Homozygote p.H63D mutation was seen in all HH patients and p.C282Y was not observed in any member of the population. A significant correlation was observed between serum ferritin (SF) level and gender or age of HH patients. p.H63D homozygote was seen to be able to significantly increase SF and transferrin saturation (TS) level without affecting on liver function. Our results also showed that iron consumption affects on TS level increasing. HFE gene expression level of IDA patients was significantly higher than other groups. Also the HFE gene expression was negatively correlated with TS. Finally, the main result of our study showed that loss of HFE function in HH is not derived from its gene expression inhibition and much higher HFE gene expression might lead to IDA. However we propose repeating of the study for more approval of our finding.

  17. Regulation of HFE expression by poly(ADP-ribose) polymerase-1 (PARP1) through an inverted repeat DNA sequence in the distal promoter.

    Science.gov (United States)

    Pelham, Christopher; Jimenez, Tamara; Rodova, Marianna; Rudolph, Angela; Chipps, Elizabeth; Islam, M Rafiq

    2013-12-01

    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder of iron overload among Caucasians of northern European descent. Over 85% of all cases with HH are due to mutations in the hemochromatosis protein (HFE) involved in iron metabolism. Although the importance in iron homeostasis is well recognized, the mechanism of sensing and regulating iron absorption by HFE, especially in the absence of iron response element in its gene, is not fully understood. In this report, we have identified an inverted repeat sequence (ATGGTcttACCTA) within 1700bp (-1675/+35) of the HFE promoter capable to form cruciform structure that binds PARP1 and strongly represses HFE promoter. Knockdown of PARP1 increases HFE mRNA and protein. Similarly, hemin or FeCl3 treatments resulted in increase in HFE expression by reducing nuclear PARP1 pool via its apoptosis induced cleavage, leading to upregulation of the iron regulatory hormone hepcidin mRNA. Thus, PARP1 binding to the inverted repeat sequence on the HFE promoter may serve as a novel iron sensing mechanism as increased iron level can trigger PARP1 cleavage and relief of HFE transcriptional repression. © 2013.

  18. Níveis de lisina digestível em rações, utilizando-se o conceito de proteína ideal, para suínos machos castrados de alto potencial genético dos 15 aos 30 kg Dietary digestible lysine levels, using the ideal protein concept, for barrows with high genetic potential from 15 to 30 kg

    Directory of Open Access Journals (Sweden)

    Márvio Lobão Teixeira de Abreu

    2006-06-01

    Full Text Available Foram utilizados 40 leitões machos castrados, de alto potencial genético para deposição de carne magra na carcaça, com pesos inicial e final de 15,76 + 0,93 e 30,23 + 1,56 kg, respectivamente, para avaliar o efeito de níveis de lisina digestível, utilizando-se o conceito de proteína ideal, sobre o desempenho e a composição da carcaça. Os tratamentos corresponderam a uma ração basal com 19,46% de PB e 3.280 kcal de EM/kg, suplementada com L-lisina HCl, resultando em rações com 0,90; 1,.00; 1,10 e 1,20% de lisina digestível. As rações foram suplementadas com níveis crescentes de aminoácidos sintéticos, resultando em rações com relações constantes entre metionina + cistina, treonina, triptofano e valina com a lisina (60, 60, 19 e 69%, respectivamente, com base na digestibilidade verdadeira. Não se observou efeito dos tratamentos sobre o consumo diário de ração, a concentração de uréia no plasma e as porcentagens de água, proteína e gordura na carcaça dos animais. Houve efeito quadrático dos níveis de lisina digestível sobre o ganho de peso diário, que aumentou até o nível estimado de 1,10% de lisina na ração, e a conversão alimentar, que melhorou até o nível estimado de 1,12%. Houve efeito dos tratamentos sobre o consumo diário de lisina, que aumentou de forma linear. As deposições de proteína e gordura na carcaça foram influenciadas de forma quadrática, aumentando até os níveis estimados de 1,12 e 1,08% de lisina digestível, respectivamente. O nível de 1,12% de lisina digestível foi o que proporcionou os melhores resultados de desempenho e de características de carcaça de suínos machos castrados de alto potencial genético na fase de 15 a 30 kg, o que correspondeu a um consumo de lisina digestível de 12,03 g/dia (3,42 g de Lis/Mcal de EM.Fourty barrows with high genetic potential for lean gain averaging initial and final body weights of 15.76 + 0.93 kg and 30.23 + 1.56 kg, respectively

  19. Variabilidad genética en Prosopis ferox (Mimosaceae

    Directory of Open Access Journals (Sweden)

    Alicia D. Burghardt

    2004-01-01

    Full Text Available Prosopis ferox (Mimosaceae es una especie arbustiva o arbórea espinosa que se distribuye desde el Sur de Bolivia hasta el noroeste de la Argentina. En la provincia de Jujuy se encuentra a grandes alturas (entre los 2400 y los 3700 m s.m.. Existe una gran variabilidad morfológica, especialmente en cuanto a las dimensiones del fruto y la cantidad de semillas por fruto, ambas características importantes debido al uso de esta planta como forraje. Con el objeto de verificar si existe además variabilidad genética, se realizó un estudio electroforético de proteínas seminales de árboles procedentes de distintas localidades de la provincia de Jujuy. Los patrones polipeptídicos obtenidos por SDS-PAGE presentaron en total 26 bandas. Cada población se caracterizó por sus patrones de presencia-ausencia de bandas, habiéndose encontrado variabilidad intrapoblacional (polimorfismo en algunas de ellas, siendo otras genéticamente homogéneas. Los índices polimórficos en poblaciones de P. ferox son comparables a los obtenidos previamente en P. ruscifolia. La variabilidad genética interpoblacional hallada por medio del estudio electroforético de las proteínas seminales hace suponer la existencia de ecotipos

  20. Evidence for the Influence of the Iron Regulatory MHC Class I Molecule HFE on Tumor Progression in Experimental Models and Clinical Populations

    Science.gov (United States)

    Weston, Cody; Connor, James

    2014-01-01

    Proteins involved in iron regulation are modifiers of cancer risk and progression. Of these, the HFE protein (high iron gene and its protein product) is of particular interest because of its interaction with both iron handling and immune function and the high rate of genetic polymorphisms resulting in a mutant protein. Clinical studies suggest that HFE polymorphisms increase the risk of certain cancers, but the inconsistent outcomes suggest a more nuanced effect, possibly interacting with other genetic or environmental factors. Some basic science research has been conducted to begin to understand the implications of variant HFE genotype on cancer, but the story is far from complete. In particular, putative mechanisms exist for HFE to affect tumor progression through its role in iron handling and its major histocompatibility complex class I structural features. In this review, the current understanding of the role of HFE in cancer is described and models for future directions are identified. PMID:25520556

  1. Association study between four polymorphisms in the HFE, TF and TFR genes and Parkinson's disease in southern Italy.

    Science.gov (United States)

    Greco, Valentina; De Marco, Elvira Valeria; Rocca, Francesca Emanuela; Annesi, Ferdinanda; Civitelli, Donatella; Provenzano, Giovanni; Tarantino, Patrizia; Scornaienchi, Vittorio; Pucci, Franco; Salsone, Maria; Novellino, Fabiana; Morelli, Maurizio; Paglionico, Sandra; Gambardella, Antonio; Quattrone, Aldo; Annesi, Grazia

    2011-06-01

    Iron overload may lead to neurodegenerative disorders such as Parkinson's disease (PD) and alterations of iron-related genes might be involved in the pathogenesis of this disease. The gene of haemochromatosis (HFE) encodes the HFE protein which interacts with the transferrin receptor (TFR), lowering its affinity for iron-bound transferrin (TF). We examined four known polymorphisms, C282Y and H63D in the HFE gene, G258S in the TF gene and S82G in the TFR gene, in 181 sporadic PD patients and 180 controls from Southern Italy to investigate their possible role in susceptibility to PD. No significant differences were found in genotype and allele frequencies between PD and controls for all the polymorphisms studied, suggesting that these variants do not contribute significantly to the risk of PD.

  2. [CCR5, CCR2, apoe, p53, ITGB3 and HFE gene polymorphism in Western Siberia long-livers].

    Science.gov (United States)

    Ivanoshchuk, D E; Mikhaĭlova, S V; Kulikov, I V; Maksimov, V N; Voevoda, M I; Romashchenko, A G

    2012-01-01

    In order to estimate the distribution of some polymorphisms for the CCR5, CCR2, apoE, p53, ITGB3, and HFE genes in Russian long-livers from Western Siberia, a sample of 271 individuals (range 90-105 years) was examined. It was demonstrated that carriage of the delta32 polymorphism for the CCR5 gene, V64/polymorphism for the CCR2 gene, e2/e3/e4 for the apoE gene, L33P for the ITGB3 gene, as well as H63D and S65C polymorphisms for the HFE gene does not influence on predisposition to the longevity; carriage of the 282 Y allele for the HFE gene negatively influences on the longevity; carriage of the heterozygous genotype for the R72P polymorphism for the p53 gene correlates with the longevity of elderly people.

  3. Não é ficção científica, é ciência : a genética e a biotecnologia em revista

    OpenAIRE

    Daniela Ripoll

    2001-01-01

    A mídia tem-se ocupado com frequência, nos últimos anos, das "novidades" da genética e da biotecnologia. Textos de revistas, jornais, cartoons, fumes de Hollywood, propagandas de empresas e laboratórios, novelas de TV, talk shows, catálogos de venda de organismos, no telejornal noturno, em reportagens especiais, manchetes: a genética, a biotecnologia, a engenharia genética, a biologia molecular e as novas" genética molecular e genômica parecem ocupar uma posição de visibilidade e destaque sej...

  4. SE PREVENINDO?

    Directory of Open Access Journals (Sweden)

    Ana Débora Assis Moura

    2010-01-01

    Full Text Available Este estudio tuvo como objetivo verificar el comportamiento de las prostitutas en relación a la prevención de enfermedades de transmisión sexual y del Síndrome de Inmunodeficiencia Adquirida-SIDA, así como investigar cómo se previenen de esas enfermedades. Se trata de una investigación exploratoria, con enfoque cualitativo, llevada a cabo en la Asociación de las Prostitutas en Ceará, Brazil, en septiembre de 2008, a través de una encuesta con 25 prostitutas. El análisis de los datos se hizo según el análisis de contenido, después de ser agrupados en cuatro categorías: conocimiento sobre las enfermedades de transmisión sexual/SIDA; convivencia con la(s enfermedad(es; prevención de la enfermedad de transmisión sexual/SIDA; y el uso de drogas. Se concluyó que las prostitutas no usan preservativos en todas las relaciones sexuales, por lo tanto, las enfermedades de transmisión sexual representan una realidad; la desinformación sobre la(s enfermedad(es es notable; el consumo de drogas lícitas e ilícitas es frecuente entre ellas, factor que las expone a situaciones más vulnerables con relación al VIH/SIDA.

  5. Aconselhamento genético Genetic counseling

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    João Monteiro de Pina-Neto

    2008-08-01

    Full Text Available OBJETIVO: Esta revisão sobre aconselhamento genético (AG teve o objetivo de mostrar os conceitos atuais e os princípios filosóficos e éticos aceitos na grande maioria dos países e recomendados pela Organização Mundial da Saúde, as fases do processo, seus resultados e o impacto psicológico de uma doença genética em uma família. FONTES DOS DADOS: Os conceitos apresentados são baseados em uma síntese histórica da literatura sobre AG desde a década de 1930 até o momento atual, sendo que os artigos citados representam os principais trabalhos publicados e que hoje fundamentam a teoria e a prática do AG. SÍNTESE DOS DADOS: O AG modernamente é definido como um processo de comunicação que trata dos problemas humanos relacionados à ocorrência de uma doença genética em uma família. É fundamental que os profissionais da saúde conheçam os aspectos psicológicos desencadeados pela doença genética e como estes aspectos podem ser manejados. Vivemos ainda na genética humana e médica uma fase de predomínio dos aspectos técnicos e científicos e de pouca ênfase no estudo das reações emocionais e dos processos de adaptação das pessoas a estas doenças, o que leva ao baixo entendimento dos clientes sobre os fatos ocorridos, com conseqüências negativas sobre a vida familiar e para a sociedade. CONCLUSÕES: Conclui-se pela necessidade de que as famílias com doenças genéticas sejam encaminhadas para AG e que os profissionais desta área invistam mais na humanização do atendimento, desenvolvendo mais as técnicas do AG psicológico não-diretivo.OBJECTIVE: The objective of this review of genetic counseling (GC is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family. SOURCES: The concepts presented are

  6. Seleção de genótipos parentais de acerola com base na divergência genética multivariada

    Directory of Open Access Journals (Sweden)

    CARPENTIERI-PÍPOLO VALÉRIA

    2000-01-01

    Full Text Available Este trabalho teve por objetivo identificar e selecionar genótipos parentais de acerola (Malpighia emarginata L. adequadas a programas de melhoramento genético. Nove caracteres quantitativos de maior importância agronômica foram usados para determinação da distância genética e formação de grupos similares de acessos. O agrupamento pelo método de Tocher, a partir das distâncias generalizadas de Mahalanobis, possibilitou a divisão de 14 genótipos em três grupos. Com base na divergência genética e no caráter agronômico-chave (teor de vitamina C, destacaram-se como mais promissores os cruzamentos dos genótipos: AM Mole pertencente ao grupo III, com os genótipos PR AM, N° 18, PR 17, PR 16, Eclipse, AM 22 e Dominga, todos pertencentes ao grupo I.

  7. HFE gene variants, iron, and lipids: a novel connection in Alzheimer’s disease

    Science.gov (United States)

    Ali-Rahmani, Fatima; Schengrund, Cara-Lynne; Connor, James R.

    2014-01-01

    Iron accumulation and associated oxidative stress in the brain have been consistently found in several neurodegenerative diseases. Multiple genetic studies have been undertaken to try to identify a cause of neurodegenerative diseases but direct connections have been rare. In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. There is also substantial epidemiological, genetic, and molecular evidence of disruption of cholesterol homeostasis in several neurodegenerative diseases, in particular Alzheimer’s disease (AD). Despite the efforts that have been made to identify factors that can trigger the pathological events associated with neurodegenerative diseases they remain mostly unknown. Because molecular phenotypes such as oxidative stress, synaptic failure, neuronal loss, and cognitive decline, characteristics associated with AD, have been shown to result from disruption of a number of pathways, one can easily argue that the phenotype seen may not arise from a linear sequence of events. Therefore, a multi-targeted approach is needed to understand a complex disorder like AD. This can be achieved only when knowledge about interactions between the different pathways and the potential influence of environmental factors on them becomes available. Toward this end, this review discusses what is known about the roles and interactions of iron and cholesterol in neurodegenerative diseases. It highlights the effects of gene variants of HFE (H63D- and C282Y-HFE) on iron and cholesterol metabolism and how they may contribute to understanding the etiology of complex neurodegenerative diseases. PMID:25071582

  8. Using iron studies to predict HFE mutations in New Zealand: implications for laboratory testing.

    Science.gov (United States)

    O'Toole, Rebecca; Romeril, Kenneth; Bromhead, Collette

    2017-04-01

    The diagnosis of hereditary haemochromatosis (HH) is not straightforward because symptoms are often absent or non-specific. Biochemical markers of iron-overloading may be affected by other conditions. To measure the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in New Zealand. Results from 2388 patients genotyped for C282Y, H63D and S65C in Wellington, New Zealand from 2007 to 2013 were compared with their biochemical phenotype as quantified by serum ferritin (SF), transferrin saturation (TS), serum iron (SI) and serum transferrin (ST). The predictive power of these markers was evaluated by receiver operator characteristic (ROC) curve analysis, and if a statistically significant association for a variable was seen, sensitivity, specificity and predictive values were calculated. Test ordering patterns showed that 62% of HFE genotyping tests were ordered because of an elevated SF alone and only 11% of these had a C-reactive protein test to rule out an acute phase reaction. The association between SF and significant HFE genotypes SF was low. However, TS values ≥45% predicted HH mutations with the highest sensitivity and specificity. A SF of >1000 µg/L was found in one at-risk patient (C282Y homozygote) who had a TS <45%. Our analysis highlights the need for clear guidelines for investigation of hyperferritinaemia and HH in New Zealand. Using our findings, we developed an evidence-based laboratory testing algorithm based on a TS ≥45%, a SF ≥1000 µg/L and/or a family history of HH which identified all C282Y homozygotes in this study. © 2016 Royal Australasian College of Physicians.

  9. HFE gene variants, iron, and lipids: a novel connection in Alzheimer's disease.

    Science.gov (United States)

    Ali-Rahmani, Fatima; Schengrund, Cara-Lynne; Connor, James R

    2014-01-01

    Iron accumulation and associated oxidative stress in the brain have been consistently found in several neurodegenerative diseases. Multiple genetic studies have been undertaken to try to identify a cause of neurodegenerative diseases but direct connections have been rare. In the iron field, variants in the HFE gene that give rise to a protein involved in cellular iron regulation, are associated with iron accumulation in multiple organs including the brain. There is also substantial epidemiological, genetic, and molecular evidence of disruption of cholesterol homeostasis in several neurodegenerative diseases, in particular Alzheimer's disease (AD). Despite the efforts that have been made to identify factors that can trigger the pathological events associated with neurodegenerative diseases they remain mostly unknown. Because molecular phenotypes such as oxidative stress, synaptic failure, neuronal loss, and cognitive decline, characteristics associated with AD, have been shown to result from disruption of a number of pathways, one can easily argue that the phenotype seen may not arise from a linear sequence of events. Therefore, a multi-targeted approach is needed to understand a complex disorder like AD. This can be achieved only when knowledge about interactions between the different pathways and the potential influence of environmental factors on them becomes available. Toward this end, this review discusses what is known about the roles and interactions of iron and cholesterol in neurodegenerative diseases. It highlights the effects of gene variants of HFE (H63D- and C282Y-HFE) on iron and cholesterol metabolism and how they may contribute to understanding the etiology of complex neurodegenerative diseases.

  10. Conceptos básicos de programación genética

    Directory of Open Access Journals (Sweden)

    José Jesús Martínez Páez

    2001-04-01

    Full Text Available La Programación Genética, PG, es un retoño de los Algoritmos Genéticos, en la cual los cromosomas que sufren la adaptación son en sí mismos programas de computador. Se usan operadores genéticos  especializados que generalizan la recombinación sexual y la mutación, para los programas de computador estructurados en árbol que están bajo adaptación.

  11. Manipulación genética de seres humanos

    OpenAIRE

    Manuel Santos Alcántara

    2006-01-01

    El gran avance que ha tenido la Genética en los últimos años y, particularmente, aquello relacionado con el desciframiento del genoma humano, ha traído a la discusión pública la posibilidad concreta de manipular genéticamente a los seres humanos. El mejoramiento o perfeccionamiento genético de los seres humanos, denominado eugenesia, actualmente se ha convertido técnicamente en una realidad, motivando una profunda reflexión de tipo ético. La pregunta básica es la siguiente: aquello que es téc...

  12. Alimentos Transgénicos : Organismos Genéticamente Modificados (OGM)

    OpenAIRE

    Martín López, Jimena

    2016-01-01

    Los alimentos transgénicos son aquellos que proceden de un organismo modificado genéticamente. La introducción de este tipo de productos en nuestra dieta es un tema que genera controversia ya que en muchos casos no se conoce con exactitud los efectos que esta modificación puede tener en el ser humano. A lo largo de las páginas de este trabajo se explica la historia de la aparición de estos organismos gracias a procedimientos de ingeniería genética, en los que se modifican fragmentos de su ADN...

  13. FutureGen Project Report

    Energy Technology Data Exchange (ETDEWEB)

    Cabe, Jim; Elliott, Mike

    2010-09-30

    This report summarizes the comprehensive siting, permitting, engineering, design, and costing activities completed by the FutureGen Industrial Alliance, the Department of Energy, and associated supporting subcontractors to develop a first of a kind near zero emissions integrated gasification combined cycle power plant and carbon capture and storage project (IGCC-CCS). With the goal to design, build, and reliably operate the first IGCC-CCS facility, FutureGen would have been the lowest emitting pulverized coal power plant in the world, while providing a timely and relevant basis for coal combustion power plants deploying carbon capture in the future. The content of this report summarizes key findings and results of applicable project evaluations; modeling, design, and engineering assessments; cost estimate reports; and schedule and risk mitigation from initiation of the FutureGen project through final flow sheet analyses including capital and operating reports completed under DOE award DE-FE0000587. This project report necessarily builds upon previously completed siting, design, and development work executed under DOE award DE-FC26- 06NT4207 which included the siting process; environmental permitting, compliance, and mitigation under the National Environmental Policy Act; and development of conceptual and design basis documentation for the FutureGen plant. For completeness, the report includes as attachments the siting and design basis documents, as well as the source documentation for the following: • Site evaluation and selection process and environmental characterization • Underground Injection Control (UIC) Permit Application including well design and subsurface modeling • FutureGen IGCC-CCS Design Basis Document • Process evaluations and technology selection via Illinois Clean Coal Review Board Technical Report • Process flow diagrams and heat/material balance for slurry-fed gasifier configuration • Process flow diagrams and heat/material balance

  14. Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review and Meta-Analysis of 5,758 Cases and 14,741 Controls.

    Directory of Open Access Journals (Sweden)

    Qing Ye

    Full Text Available Conflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D of human HFE (hereditary hemochromatosis gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD, liver cirrhosis and hepatocellular carcinoma (HCC.An updated systematic review and meta-analysis was conducted to evaluate the potential role of HFE polymorphisms in the susceptibility to NAFLD, liver cirrhosis and HCC. After retrieving articles from online databases, eligible studies were enrolled according to the selection criteria. Stata/SE 12.0 software was utilized to perform the statistical analysis.In total, 43 articles with 5,758 cases and 14,741 controls were selected. Compared with the control group, a significantly increased risk of NAFLD was observed for the C282Y polymorphism in the Caucasian population under all genetic models and for the H63D polymorphism under the allele, heterozygote and dominant models (all OR>1, Passociation0.05. In addition, we found that HFE C282Y was statistically associated with increased HCC susceptibility in the overall population, while H63D increased the odds of developing non-cirrhotic HCC in the African population (all OR>1, Passociation<0.05. Moreover, a positive association between compound heterozygosity for C282Y/H63D and the risk of NAFLD and HCC, but not liver cirrhosis, was observed.Our meta-analysis provides evidence that the HFE C282Y and H63D polymorphisms confer increased genetic susceptibility to NAFLD and HCC but not liver cirrhosis. Additional well-powered studies are required to confirm our conclusion.

  15. Búsqueda de selección en el polimorfismo 677C>T (c.665C>T) del gen de la metilentetrahidrofolato reductasa (MTHFR) en una población Colombiana

    OpenAIRE

    Riaño Moreno, Julián Camilo

    2014-01-01

    Se realizó un estudio genético – poblacional en dos grupos etarios de población colombiana con la finalidad de evaluar las diferencias genéticas relacionadas con el polimorfismo MTHFR 677CT en busca de eventos genéticos que soporten la persistencia de este polimorfismo en la especie humana debido que este ha sido asociado con múltiples enfermedades. De esta manera se genotipificaron los individuos, se analizaron los genotipos, frecuencias alélicas y se realizaron diferentes pruebas genéticas...

  16. Hepcidin regulation in wild-type and Hfe knockout mice in response to alcohol consumption: evidence for an alcohol-induced hypoxic response.

    Science.gov (United States)

    Heritage, Mandy L; Murphy, Therese L; Bridle, Kim R; Anderson, Gregory J; Crawford, Darrell H G; Fletcher, Linda M

    2009-08-01

    Expression of Hamp1, the gene encoding the iron regulatory peptide hepcidin, is inappropriately low in HFE-associated hereditary hemochromatosis and Hfe knockout mice (Hfe(-/-)). Since chronic alcohol consumption is also associated with disturbances in iron metabolism, we investigated the effects of alcohol consumption on hepcidin mRNA expression in Hfe(-/-) mice. Hfe(-/-) and C57BL/6 (wild-type) mice were pair-fed either an alcohol liquid diet or control diet for up to 8 weeks. The mRNA levels of hepcidin and ferroportin were measured at the mRNA level by RT-PCR and protein expression of hypoxia inducible factor-1 alpha (HIF-1alpha) was measured by western blot. Hamp1 mRNA expression was significantly decreased and duodenal ferroportin expression was increased in alcohol-fed wild-type mice at 8 weeks. Time course experiments showed that the decrease in hepcidin mRNA was not immediate, but was significant by 4 weeks. Consistent with the genetic defect, Hamp1 mRNA was decreased and duodenal ferroportin mRNA expression was increased in Hfe(-/-) mice fed on the control diet compared with wild-type animals and alcohol further exacerbated these effects. HIF-1alpha protein levels were elevated in alcohol-fed wild-type animals compared with controls. Alcohol may decrease Hamp1 gene expression independently of the HFE pathway possibly via alcohol-induced hypoxia.

  17. Algoritmos genéticos locales

    OpenAIRE

    García-Martínez, Carlos; Lozano, Manuel

    2007-01-01

    Los Algoritmos Genéticos Locales son procedimientos que iterativamente re nan soluciones dadas. Su diferencia con procedimientos de mejora iterativa clásicos reside en el uso de operadores genéticos para realizar el re namiento. En este estudio presentamos un nuevo Algoritmo Genético Local Binario basado en un Algoritmo Genético Estacionario. Hemos comparado el Algoritmo Genético Local Binario con otros procedimientos de mejora iterativa de la literatura. Los res...

  18. Distancias genéticas en poblaciones del NOA

    Directory of Open Access Journals (Sweden)

    Acreche, Noemí

    1996-01-01

    Full Text Available La mayor parte de los trabajos realizados en nuestro país sobre polimorfismos hematológicos, abordan la necesaria descripción de las poblaciones. Se pone de relieve la importancia de encarar estudios, en base a la valiosa información publicada, que vinculen los grupos con técnicas que permitan realizar nuevas inferencias sobre sus relaciones. Conocidas en gran medida en cuanto a sus manifestaciones culturales, pueden aportar desde lo genético a la comprensión de los procesos microevolutivos ocurridos en una región. Para el NOA, se ha considerado la presencia de comunidades aborígenes incluídas en cuatro familias lingüísticas. Se tendrán en cuenta estos complejos como representativos de afinidades que se establecen a partir de estrechas relaciones entre las etnias, no sólo por la lengua, sino también por las características de sus sistemas productivos, religiosidad y organización. En base a las frecuencias génicas publicadas correspondientes a los siguientes alelos: I*A, I*B, I*O; M, N, S, s; Dia , Dib; P1, P2; C, c; D, d, E, e; Le, le; Fya, Fyb; Jka, Jkb; K y k se construyeron tablas de frecuencias. Se estimaron los coeficientes de distancias genéticas que fueron analizados y posteriormente incluídos en la construcción de un fenograma de los grupos de estudio, mediante agrupaciones (Sahn Cluster secuenciales, aglomerativas, jerárquicas y anidadas. De acuerdo a la información recopilada de las frecuencias de los 25 alelos estudiados en trece poblaciones de aborígenes del NOA y Paraguay, las distancias genéticas obtenidas reflejan los caracteres lingüístico-culturales.

  19. [Analysis of H63D mutation in hemochromatosis (HFE) gene in populations of central Eurasia].

    Science.gov (United States)

    Khusainova, R I; Khusnutdinova, N N; Litvinov, S S; Khusnutdinova, E K

    2013-02-01

    An analysis of the frequency of H63D (c. 187C>G) mutations in the HFEgene in 19 populations from Central Eurasia demonstrated that the distribution of the mutation in the region of interest was not uniform and that there were the areas of H63D accumulation. The investigation of three polymorphic variants, c.340+4T>C (rs2071303, IVS2(+4)T>C), c.893-44T>C (rs1800708, IVS4(-44)T>C), and c.1007-47G>A (rs1572982, IVS5(-47)A>G), in the HFE gene in individuals homozygous for H63D mutations in the HFE gene revealed the linkage of H63D with three haplotypes, *CTA, *TG, and *TTA. These findings indicated the partial spread of the mutation in Central Eurasia from Western Europe, as well as the possible repeated appearance of the mutation on the territory on interest.

  20. Heterozygous Hfe gene deletion leads to impaired glucose homeostasis, but not liver injury in mice fed a high-calorie diet.

    Science.gov (United States)

    Britton, Laurence; Jaskowski, Lesley; Bridle, Kim; Santrampurwala, Nishreen; Reiling, Janske; Musgrave, Nick; Subramaniam, V Nathan; Crawford, Darrell

    2016-06-01

    Heterozygous mutations of the Hfe gene have been proposed as cofactors in the development and progression of nonalcoholic fatty liver disease (NAFLD). Homozygous Hfe deletion previously has been shown to lead to dysregulated hepatic lipid metabolism and accentuated liver injury in a dietary mouse model of NAFLD We sought to establish whether heterozygous deletion of Hfe is sufficient to promote liver injury when mice are exposed to a high-calorie diet (HCD). Eight-week-old wild-type and Hfe(+/-) mice received 8 weeks of a control diet or HCD Liver histology and pathways of lipid and iron metabolism were analyzed. Liver histology demonstrated that mice fed a HCD had increased NAFLD activity score (NAS), steatosis, and hepatocyte ballooning. However, liver injury was unaffected by Hfe genotype. Hepatic iron concentration (HIC) was increased in Hfe(+/-) mice of both dietary groups. HCD resulted in a hepcidin-independent reduction in HIC Hfe(+/-) mice demonstrated raised fasting serum glucose concentrations and HOMA-IR score, despite unaltered serum adiponectin concentrations. Downstream regulators of hepatic de novo lipogenesis (pAKT, SREBP-1, Fas, Scd1) and fatty acid oxidation (AdipoR2, Pparα, Cpt1) were largely unaffected by genotype. In summary, heterozygous Hfe gene deletion is associated with impaired iron and glucose metabolism. However, unlike homozygous Hfe deletion, heterozygous gene deletion did not affect lipid metabolism pathways or liver injury in this model. © 2016 The Authors. Physiological Reports published by Wiley Periodicals, Inc. on behalf of the American Physiological Society and The Physiological Society.

  1. Evaluación genética de los salmónidos asturianos como recurso natural

    OpenAIRE

    Abad García, David

    2012-01-01

    En este proyecto se analiza la estructura genética de los stocks utilizados para la repoblación de trucha común en el Principado de Asturias, pertenecientes a dos piscifactorías diferentes, con el fin de establecer si los repobladores cumplen con la normativa vigente sobre la liberación de individuos no autóctonos al medio natural, que está actualmente prohibida. Para ello se utiliza como marcador genético el gen del enzima lactato deshidrogenasa LDH-C, que permite diferenciar las poblaciones...

  2. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

    Science.gov (United States)

    Grosse, Scott D; Gurrin, Lyle C; Bertalli, Nadine A; Allen, Katrina J

    2018-04-01

    Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.

  3. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population

    Directory of Open Access Journals (Sweden)

    Simonas Juzėnas

    2016-01-01

    Conclusions: Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women.

  4. Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.

    Science.gov (United States)

    Del-Castillo-Rueda, Alejandro; Moreno-Carralero, María-Isabel; Alvarez-Sala-Walther, Luis-Antonio; Cuadrado-Grande, Nuria; Enríquez-de-Salamanca, Rafael; Méndez, Manuel; Morán-Jiménez, María-Josefa

    2011-03-01

    The most common form of hemochromatosis is caused by mutations in the HFE gene. Rare forms of the disease are caused by mutations in other genes. We present a patient with hyperferritinemia and iron overload, and facial flushing. Magnetic resonance imaging was performed to measure hepatic iron overload, and a molecular study of the genes involved in iron metabolism was undertaken. The iron overload was similar to that observed in HFE hemochromatosis, and the patient was double heterozygous for two novel mutations, c.-20G>A and c.718A>G (p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively. Hyperferritinemia and facial flushing improved after phlebotomy. Two of the patient's children were also studied, and the daughter was heterozygous for the mutation in the SLC40A1 gene, although she did not have hyperferritinemia. The patient presented a mild iron overload phenotype probably because of the two novel mutations in the HFE and SLC40A1 genes. © 2011 John Wiley & Sons A/S.

  5. Implicating the H63D polymorphism in the HFE gene in increased incidence of solid cancers: a meta-analysis.

    Science.gov (United States)

    Shen, L L; Gu, D Y; Zhao, T T; Tang, C J; Xu, Y; Chen, J F

    2015-10-29

    A number of previous studies have demonstrated that the HFE H63D polymorphism is associated with increased risk of incidence multiple types of cancer, including colorectal cancer, breast cancer, liver cancer, pancreatic cancer, and gynecological malignant tumors. However, the clinical outcomes were inconsistent. Therefore, this meta-analysis was conducted to summarize the effect of the H63D variant on the incidence of solid tumor. PubMed and EMBASE databases were searched for articles associating the HFE H63D polymorphism with cancer risk. The relationships were evaluated by calculating the pooled odds ratios (ORs) with 95% confidence intervals (CIs). A total of 28 studies, including 7728 cancer cases and 11,895 controls, were identified. Statistically significant associations were identified between the HFE H63D polymorphism and solid cancer risk (CG vs CC, OR = 1.14, 95%CI = 1.07-1.23, P HFE H63D polymorphism may play a critical role in the increased aggressiveness of hepatocellular carcinoma and pancreatic cancer.

  6. Medicamentos genéricos y de marca-Calidad e intercambiabilidad

    Directory of Open Access Journals (Sweden)

    Rua F.

    2012-03-01

    Full Text Available El interés por los medicamentos genéricos procede de la necesidad de los sistemas sanitarios de reducir la factura sanitaria sin merma de los objetivos de salud. Su expansión y uso requieren la aceptación de la población y de los profesionales. También requieren que se despejen algunas dudas sobre su verdadera equivalencia respecto a los medicamentos originales. Desde su introducción en el mercado farmacéutico existe el debate de si son correctamente investigados y de alta calidad. No son infrecuentes los conceptos equivocados entre los profesionales sobre los genéricos, en especial, el supuesto hecho de que pueden llegar a contener hasta un 20% menos de concentración en principio activo. Estas creencias erróneas sugieren una situación de desventaja en la eficacia y la tolerabilidad de los medicamentos genéricos comparados con sus equivalentes de marca, disminuyendo la credibilidad de los mismos. Así, en una encuesta realizada en 2008 los farmacéuticos opinaron que los genéricos y las marcas son diferentes en eficacia (26%, equivalencia (28% y, sobre todo, en la calidad del excipiente (46%, aumentando la percepción de que los genéricos son diferentes en función del laboratorio que los fabrica (52,8%. En este artículo, con el fin de ampliar los conocimientos sobre medicamentos genéricos, solucionar dudas y proporcionar información, objetiva, clara y rigurosa, se revisan los posibles prejuicios sobre genéricos y se exponen las evidencias que existen en torno a los mismos, como los requisitos de bioequivalencia de los productos genéricos, analizando si ésta corrobora adecuadamente la equivalencia terapéutica y de intercambio.

  7. Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

    DEFF Research Database (Denmark)

    Milman, Nils; Koefoed, Pernille; Pedersen, Palle

    2003-01-01

    AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical...... diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS...

  8. Taxonomic dissection of the genus Micrococcus: Kocuria gen. nov., Nesterenkonia gen. nov., Kytococcus gen. nov., Dermacoccus gen. nov., and Micrococcus Cohn 1872 gen. emend.

    Science.gov (United States)

    Stackebrandt, E; Koch, C; Gvozdiak, O; Schumann, P

    1995-10-01

    The results of a phylogenetic and chemotaxonomic analysis of the genus Micrococcus indicated that it is significantly heterogeneous. Except for Micrococcus lylae, no species groups phylogenetically with the type species of the genus, Micrococcus luteus. The other members of the genus form three separate phylogenetic lines which on the basis of chemotaxonomic properties can be assigned to four genera. These genera are the genus Kocuria gen. nov. for Micrococcus roseus, Micrococcus varians, and Micrococcus kristinae, described as Kocuria rosea comb. nov., Kocuria varians comb. nov., and Kocuria kristinae comb. nov., respectively; the genus Nesterenkonia gen. nov. for Micrococcus halobius, described as Nesterenkonia halobia comb. nov.; the genus Nesterenkonia gen. nov. for Micrococcus halobius, described as Nesterenkonia halobia comb. nov.; the genus Dermacoccus gen. nov. for Micrococcus nishinomiyaensis, described as Dermacoccus nishinomiyaensis comb. nov.; and the genus Kytocossus gen. nov. for Micrococcus sedentarius, described as Kytococcus sedentarius comb. nov. M. luteus and M. lylae, which are closely related phylogenetically but differ in some chemotaxonomic properties, are the only species that remain in the genus Micrococcus Cohn 1872. An emended description of the genus Micrococcus is given [corrected].

  9. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity.

    Science.gov (United States)

    Gurrin, Lyle C; Bertalli, Nadine A; Dalton, Gregory W; Osborne, Nicholas J; Constantine, Clare C; McLaren, Christine E; English, Dallas R; Gertig, Dorota M; Delatycki, Martin B; Nicoll, Amanda J; Southey, Melissa C; Hopper, John L; Giles, Graham G; Anderson, Gregory J; Olynyk, John K; Powell, Lawrie W; Allen, Katrina J

    2009-07-01

    The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective population-based cohort study to estimate the prevalence of elevated iron indices and hemochromatosis-related morbidity for compound heterozygotes. In all, 31,192 subjects of northern European descent were genotyped for HFE C282Y and H63D. An HFE-genotype stratified random sample of 1,438 subjects, followed for an average of 12 years to a mean age of 65 years, completed questionnaires and gave blood. Clinical examinations were blinded to HFE genotype. A total of 180 (84 males) clinically examined C282Y/H63D participants were compared with 330 (149 males) controls with neither HFE mutation; 132 (65 males) and 270 (122 males), respectively, had serum iron measures at both timepoints. Mean serum ferritin (SF) and transferrin saturation (TS) were significantly greater for male and female compound heterozygotes than for wild-types at baseline and follow-up (all P females who were premenopausal at baseline, where SF was similar in both genotype groups. For subjects with serum measures from both baseline and follow-up, mean SF and TS levels did not change significantly for men or for postmenopausal women, but for premenopausal women SF levels increased from 43 to 109 microg/L for compound heterozygotes and from 35 to 64 microg/L for wild-types (both P female compound heterozygotes had a similar prevalence of hemochromatosis-related morbidity to wild-types. One of 82 males and zero of 95 females had documented iron overload-related disease. For male compound heterozygotes, mean iron indices do not change during middle age but for female compound heterozygotes menopause results in increased mean SF. Although compound heterozygotes might maintain elevated iron indices during middle age, documented iron overload-related disease is rare.

  10. Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin

    Directory of Open Access Journals (Sweden)

    Silvia Coelho-Borges

    2012-03-01

    Full Text Available CONTEXT: Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. OBJECTIVE: To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. METHODS: A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2 and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week and ribavirin (1.000 mg, daily for 24 weeks. RESULTS: Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis and BclI (H63D mutation analysis in 16 (37% patients, all heterozygous (11 H63D, 2 C282Y and 3 both. Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41% of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test. CONCLUSION: Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

  11. HFE gene C282Y variant is associated with colorectal cancer in Caucasians: a meta-analysis.

    Science.gov (United States)

    Chen, Weidong; Zhao, Hua; Li, Tiegang; Yao, Hongliang

    2013-08-01

    The HFE gene has been suggested to play an important role in the pathogenesis of colorectal cancer. However, the results have been conflicting. In this study, we performed a meta-analysis to clarify the association of HFE gene C282Y variant with colorectal cancer. PubMed and Embase were retrieved to identify the potential literature. Pooled odds ratio (OR) with 95 % confidence interval (CI) was calculated using fixed- or random-effects model. A total of eight papers including nine studies (7,588 colorectal cancer cases and 81,571 controls) for HFE gene C282Y variant were included in the meta-analysis. The result indicated that HFE gene C282Y variant was significantly associated with colorectal cancer under recessive model (OR = 2.00, 95 % CI = 1.32-3.04), with no evidence of between-study heterogeneity (I (2) = 0.2 %, p = 0.432). Further subgroup analysis by number of cases suggested the effect was significant in studies with more than 500 cases (OR = 2.51, 95 % CI = 1.58-3.98, I (2) = 0.0 %, p = 0.921), but not in studies with less than 500 cases (OR = 0.75, 95 % CI = 0.28-1.97, I (2) = 0.0 %, p = 0.622). The current meta-analysis supported the positive association of HFE gene C282Y variant with colorectal cancer. Further large-scale studies with the consideration for gene-gene/gene-environment interactions should be conducted to investigate the association.

  12. Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin.

    Science.gov (United States)

    Coelho-Borges, Silvia; Cheinquer, Hugo; Wolff, Fernando Herz; Cheinquer, Nelson; Krug, Luciano; Ashton-Prolla, Patricia

    2012-01-01

    Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2) and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week) and ribavirin (1.000 mg, daily) for 24 weeks. Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis) and BclI (H63D mutation analysis) in 16 (37%) patients, all heterozygous (11 H63D, 2 C282Y and 3 both). Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41%) of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test). Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

  13. Mutation in HFE gene decreases manganese accumulation and oxidative stress in the brain after olfactory manganese exposure.

    Science.gov (United States)

    Ye, Qi; Kim, Jonghan

    2016-06-01

    Increased accumulation of manganese (Mn) in the brain is significantly associated with neurobehavioral deficits and impaired brain function. Airborne Mn has a high systemic bioavailability and can be directly taken up into the brain, making it highly neurotoxic. While Mn transport is in part mediated by several iron transporters, the expression of these transporters is altered by the iron regulatory gene, HFE. Mutations in the HFE gene are the major cause of the iron overload disorder, hereditary hemochromatosis, one of the prevalent genetic diseases in humans. However, whether or not HFE mutation modifies Mn-induced neurotoxicity has not been evaluated. Therefore, our goal was to define the role of HFE mutation in Mn deposition in the brain and the resultant neurotoxic effects after olfactory Mn exposure. Mice carrying the H67D HFE mutation, which is homologous to the H63D mutation in humans, and their control, wild-type mice, were intranasally instilled with MnCl2 with different doses (0, 0.2, 1.0 and 5.0 mg kg(-1)) daily for 3 days. Mn levels in the blood, liver and brain were determined using inductively-coupled plasma mass spectrometry (ICP-MS). H67D mutant mice showed significantly lower Mn levels in the blood, liver, and most brain regions, especially in the striatum, while mice fed an iron-overload diet did not. Moreover, mRNA expression of ferroportin, an essential exporter of iron and Mn, was up-regulated in the striatum. In addition, the levels of isoprostane, a marker of lipid peroxidation, were increased in the striatum after Mn exposure in wild-type mice, but were unchanged in H67D mice. Together, our results suggest that the H67D mutation provides decreased susceptibility to Mn accumulation in the brain and neurotoxicity induced by inhaled Mn.

  14. CLONACIÓN Y FILOGENIA MOLECULAR DE UN SEGMENTO DEL GEN CODANTE DE LA ACTINA DE MYRCIARIA DUBIA “CAMU-CAMU”: UN CANDIDATO PARA GEN DE REFERENCIA

    Directory of Open Access Journals (Sweden)

    Juan Carlos Castro Gómez

    2012-12-01

    Full Text Available Myrciaria dubia “camu-camu” es un frutal amazónico caracterizado por su amplia variación de vitamina C. Pero los estudios genético moleculares que puedan explicar esta variación son limitados. Por ello nuestro objetivo fue realizar la clonación y filogenia molecular de un segmento del gen codante de la actina de M. dubia. Las muestras fueron obtenidas de la colección de germoplasma del INIA. Luego, el ARN fue purificado y mediante RT-PCR con cebadores degenerados se amplificó un segmento del gen. En base a la secuencia obtenida se diseñaron cebadores específicos para PCR en tiempo real. Los resultados muestran que se ha aislado, clonado y secuenciado un segmento del gen codante de actina de M. dubia y detectado su expresión en hojas, pulpa y cáscara de M. dubia. Así, con el soporte de herramientas bioinformáticas y uso de técnicas de biología molecular hemos aislado, clonado y secuenciado un segmento del gen codante de la actina de M. dubia. Asimismo, los análisis realizados muestran que el gen se expresa y presenta niveles similares de expresión en hojas, pulpa y cáscara de M. dubia. Sin embargo, es necesario realizar más experimentos a fin de verificar su estabilidad de expresión.

  15. Prevalence of C282Y and H63D mutations in the HFE gene of Brazilian individuals with clinical suspicion of hereditary hemochromatosis Prevalência das mutações C282Y e H63D no gene HFE em indivíduos brasileiros com suspeita clínica de hemocromatose hereditária

    Directory of Open Access Journals (Sweden)

    Alessandro C. S. Ferreira

    2008-10-01

    Full Text Available Classical hereditary hemochromatosis is a recessive autosomal disease related to a systemic iron overload that is frequently related to C282Y and H63D mutations in the HFE gene. In Brazil, reports on HFE gene mutation frequencies are rare, mainly in regards to a representative sample population. This study intended to determine the prevalence of C282Y and H63D mutations among individuals with clinical suspicion of hereditary hemochromatosis. A total of 1955 patients were studied with C282Y and H63D mutations being detected by the polymerase chain reaction technique followed by enzymatic restriction. The sample consisted of 76.6% men and 23.4% women. The highest percentage of analyzed individuals (56.9% was concentrated in the 41 to 60-year-old age group. Although there were no genic or genotypic differences between genders, a higher number of over 60-year-old women was observed. The C282Y mutation was found as homozygous in 2.9% of the cases and as heterozygous in 10.1%, while the H63D was homozygous in 4.3% and heterozygous in 30.6%. The C282Y and H63D mutant allele frequencies were 0.079 and 0.196, respectively. The highest frequency was observed for H63D which was in genetic equilibrium. This work is important to determine the genetic profile of the population with hereditary hemochromatosis in Brazi.A hemocromatose hereditária clássica (HH é uma doença autossômica recessiva caracterizada por uma sobrecarga sistêmica de ferro, a qual está freqüentemente relacionada às mutações C282Y e H63D no gene HFE. No Brasil, registros das freqüências das mutações no gene HFE são raros, principalmente envolvendo uma amostra representativa da população. Este estudo teve como objetivo a determinação da prevalência das mutações C282Y e H63D em indivíduos com suspeita clínica de HH. Para isto, foram estudados 1955 pacientes para os quais as mutações C282Y e H63D foram pesquisadas pela técnica de Reação em Cadeia da Polimerase

  16. Mejoramiento genético acelerado de angiospermas perennes vía inducción floral por sobre-expresión del gen FT

    Directory of Open Access Journals (Sweden)

    Rafael Urrea López

    2018-05-01

    Full Text Available Los bosques y selvas enfrentan el reto de satisfacer la demanda por recursos de una población en crecimiento, así como la amenaza del rápido cambio climático que exacerba la magnitud y frecuencia de estreses bióticos y abióticos. Para ello, es urgente acelerar el mejoramiento genético de especies forestales. Sin embargo, sus largas etapas juveniles y asincronía floral retrasan peligrosamente este proceso. El presente ensayo explora los adelantos biotecnológicos en inducción floral y su potencial aplicación en especies forestales. Entre los genes identificados y caracterizados que participan en la ruta de señalización de la floración, especial atención se destina al gen FLOWERING LOCUS T, considerado un integrador de rutas de señalización altamente conservado entre las angiospermas, que, al sobre-expresarse por ingeniería genética, es capaz de inducir la floración de forma eficiente. Esta novedosa estrategia biotecnológica se ha utilizado, recientemente, para segregar genes de resistencia a enfermedades, en un menor tiempo, en germoplasma comercial de manzana y ciruela. Permite soslayar barreras naturales que por mucho tiempo han restringido a las especies forestales al mejoramiento por selección, principalmente. Entre sus ventajas está la de poder restringirla al proceso y no al producto, para acelerar las cruzas sexuales sin modificar genéticamente la progenie; se aleja así de la controversia alrededor de la liberación y consumo de organismos genéticamente modificados, y de los costos y trámites obligatorios para los OGM para monitoreo de posibles riesgos. Se proyecta como una tecnología que puede acelerar, significativamente, el mejoramiento de especies forestales.

  17. La genética humana en Costa Rica situación actual y sus perspectivas

    OpenAIRE

    Barrantes Mesén, Ramiro

    1985-01-01

    Artículo científico -- Universidad de Costa Rica. Instituto de Investigaciones en Salud, 1985 Se analiza la situación de la genética humana en Costa Rica mediante un estudio de la literatura científica publicada entre 1964 y 1984. Se muestra que a partir de 1976 se ha incrementado el número de publicaciones en este campo, destacando las investigaciones sobre hemoglobinas anormales, la estructura genética de varias poblaciones y la caracterización de algunas enfermedades hereditarias. Se co...

  18. Reporte de familias con neurofibromatosis y otras enfermedades genéticas

    OpenAIRE

    Orraca Castillo, Miladys; Licourt Otero, Deysi; Sánchez Álvarez de La Campa, Ana Isabel

    2011-01-01

    La neurofibromatosis tipo 1, es una enfermedad genética que primariamente afecta el desarrollo y crecimiento celular del sistema nervioso, clínicamente se caracteriza por máculas café con leche, neurofibromas, pecas en regiones no expuestas al sol, nódulos de Lisch, lesiones óseas y glioma óptico. En el presente trabajo se describen dos familias, en las cuales algunos individuos padecen esta enfermedad y otros miembros de la misma familia muestran una diferente enfermedad genética. La coexist...

  19. Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis.

    Science.gov (United States)

    Duarte, Tiago L; Caldas, Carolina; Santos, Ana G; Silva-Gomes, Sandro; Santos-Gonçalves, Andreia; Martins, Maria João; Porto, Graça; Lopes, José Manuel

    2017-04-01

    In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload. We evaluated if the genetic disruption of Nrf2 would prompt the development of liver damage in Hfe -/- mice (an established model of human HFE-hemochromatosis). Wild-type, Nrf2 -/- , Hfe -/- and double knockout (Hfe/Nrf2 -/- ) female mice on C57BL/6 genetic background were sacrificed at the age of 6 (young), 12-18 (middle-aged) or 24 months (old) for evaluation of liver pathology. Despite the parenchymal iron accumulation, Hfe -/- mice presented no liver injury. The combination of iron overload (Hfe -/- ) and defective antioxidant defences (Nrf2 -/- ) increased the number of iron-related necroinflammatory lesions (sideronecrosis), possibly due to the accumulation of toxic oxidation products such as 4-hydroxy-2-nonenal-protein adducts. The engulfment of dead hepatocytes led to a gradual accumulation of iron within macrophages, featuring large aggregates. Myofibroblasts recruited towards the injury areas produced substantial amounts of collagen fibers involving the liver parenchyma of double-knockout animals with increased hepatic fibrosis in an age-dependent manner. The genetic disruption of Nrf2 promotes the transition from iron accumulation (siderosis) to liver injury in Hfe -/- mice, representing the first demonstration of spontaneous hepatic fibrosis in the long term in a mouse model of hereditary hemochromatosis displaying mildly elevated liver iron. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  20. Prevalence of C282Y, H63D, and S65C mutations in hereditary HFE-hemochromatosis gene in Lithuanian population.

    Science.gov (United States)

    Kucinskas, Laimutis; Juzenas, Simonas; Sventoraityte, Jurgita; Cedaviciute, Ruta; Vitkauskiene, Astra; Kalibatas, Vytenis; Kondrackiene, Jurate; Kupcinskas, Limas

    2012-04-01

    HFE-hemochromatosis is a common autosomal recessive disease caused by HFE gene mutations and characterized as iron overload and failure of different organs. The aim of this study was to determine the prevalence of C282Y (c.845 G>A), H63D (c.187 C>G), and S65C (c.193A>T) alleles of HFE gene in the Lithuanian population. One thousand and eleven healthy blood donors of Lithuanian nationality were examined in four different ethnic Lithuanian regions to determine HFE gene alleles and genotype frequencies. The samples of DNA were analyzed for the presence of restriction fragment length polymorphism and validated by DNA sequencing. Among 1,011 blood donors tested, the frequency of C282Y, H63D, and S65C alleles were 2.6%, 15.9%, and 1.9%, respectively. One third of the tested subjects (n = 336) had at least one of the C282Y or H63D HFE gene mutations. The screening of Lithuanian blood donors has detected 13 (1.3%) subjects with a genotype C282Y/C282Y or C282Y/H63D responsible for the development of HFE-hemochromatosis. The prevalence of C282Y mutation was significantly higher among the inhabitants of Zemaitija (Somogitia) at the Baltic Sea area (5.9%) in comparison to the regions of continental part of Lithuania (2.4% in Dzukija, 2.3% in Aukstaitija, and 2% in Suvalkija, p HFE gene mutations in ethnic Lithuanians showed that the frequencies of H63D, C282Y, and S65C of HFE gene alleles are similar to the other North-Eastern Europeans, especially in the Baltic region (Estonia, Latvia), Poland, and part of Russia (Moscow region).

  1. História da genética no Brasil: um olhar a partir do Museu da Genética da Universidade Federal do Rio Grande do Sul

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    Vanderlei Sebastiao de Souza

    2013-06-01

    Full Text Available Aborda o contexto de criação do Museu da Genética, em 2011 no Departamento de Genética na Universidade Federal do Rio Grande do Sul, em Porto Alegre, e apresenta sua estrutura e conteúdo. Argumenta-se que os materiais disponibilizados no Museu da Genética constituem uma rica fonte para pesquisas sobre a história da genética no Brasil (e da genética de populações humanas em particular a partir da segunda metade do século XX, tema ainda pouco investigado, apesar da proeminência dessa área do conhecimento no Brasil.

  2. Divergence and genetic variability among superior rubber tree genotypes Divergência e variabilidade genética de genótipos superiores de seringueira

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    Lígia Regina Lima Gouvêa

    2010-02-01

    Full Text Available The objective of this work was to estimate the genetic variability and divergence among 22 superior rubber tree (Hevea sp. genotypes of the IAC 400 series. Univariate and multivariate analyses were performed using eight quantitative traits (descriptors, including yield. In the univariate analyses, the estimated parameters were: genetic and environmental variances; genetic and environmental coefficients of variation; and the variation index. The Mahalanobis generalized distance, the Tocher agglomerative method and canonical variables were used for the multivariate analyses. In the univariate analyses, variability was verified among the genotypes for all the variables evaluated. The Tocher method grouped the genotypes into 11 clusters of dissimilarity. The first four canonical variables explained 87.93% of the cumulative variation. The highest genetic variability was found in rubber yield-related traits, which contributed the most to the genetic divergence. The most divergent pairs of genotypes are suggested for crossbreeding. The genotypes evaluated are suitable for breeding and may be used to continue the IAC rubber tree breeding program.O objetivo deste trabalho foi estimar a divergência e a variabilidade genética entre 22 genótipos superiores de seringueira (Hevea sp. da série IAC 400. Análises univariadas e multivariadas foram realizadas com oito caracteres quantitativos (descritores, incluindo produtividade. Na análise univariada, os parâmetros estimados foram: variâncias genética e ambiental, coeficientes de variação genética e ambiental, e índice de variação. A distância generalizada de Mahalanobis, o método aglomerativo de Tocher e variáveis canônicas foram utilizados nas análises multivariadas. Nas análises univariadas, verificou-se variabilidade entre os genótipos para todas as variáveis avaliadas. O método de Tocher agrupou os genótipos em 11 grupos de dissimilaridade. As quatro primeiras variáveis can

  3. Review of advanced control rooms: Methodological considerations for the use of HFE guidelines

    International Nuclear Information System (INIS)

    O'Hara, J.M.

    1994-01-01

    Control rooms for advanced nuclear power plants use advanced human-system interface (HSI) technologies that may have significant implications for plant safety in that they will affect the operator's overall role in the system and the ways in which operators interact with the system. The US Nuclear Regulatory Commission (NRC) reviews HSIs to ensure that they are designed to accepted human factors engineering (HFE) principles. The principal review guidance, however, is more than ten-years old (US NRC, 1981). Accordingly, an Advanced HSI Design Review Guideline (DRG) was developed to provide criteria for these reviews. The DRG contains seven major sections: Information Display, User-System Interaction, Process Control and Input Devices, Alarms, Analysis and Decision Aids, Inter-Personnel Communication, and Workplace Design (see O'Hara ampersand Brown, 1993). The purpose of this paper is to describe the methodology for DRG use

  4. Loss of Hfe Leads to Progression of Tumor Phenotype in Primary Retinal Pigment Epithelial Cells

    Science.gov (United States)

    Gnana-Prakasam, Jaya P.; Veeranan-Karmegam, Rajalakshmi; Coothankandaswamy, Veena; Reddy, Sushma K.; Martin, Pamela M.; Thangaraju, Muthusamy; Smith, Sylvia B.; Ganapathy, Vadivel

    2013-01-01

    Purpose. Hemochromatosis is a disorder of iron overload arising mostly from mutations in HFE. HFE is expressed in retinal pigment epithelium (RPE), and Hfe−/− mice develop age-related iron accumulation and retinal degeneration associated with RPE hyperproliferation. Here, the mechanism underlying the hyperproliferative phenotype in RPE was investigated. Methods. Cellular senescence was monitored by β-galactosidase activity. Gene expression was monitored by real-time PCR. Survivin was analyzed by Western blot and immunofluorescence. Migration and invasion were monitored using appropriate kits. Glucose transporters (GLUTs) were monitored by 3-O-methyl-D-glucose uptake. Histone deacetylases (HDACs) were studied by monitoring catalytic activity and acetylation status of histones H3/H4. Results. Hfe−/− RPE cells exhibited slower senescence rate and higher survivin expression than wild type cells. Hfe−/− cells migrated faster and showed greater glucose uptake and increased expression of GLUTs. The expression of HDACs and DNA methyltransferase (DNMTs) also was increased. Similarly, RPE cells from hemojuvelin (Hjv)-knockout mice, another model of hemochromatosis, also had increased expression of GLUTs, HDACs, and DNMTs. The expression of Slc5a8 was decreased in Hfe−/− RPE cells, but treatment with a DNA methylation inhibitor restored the transporter expression, indicating involvement of DNA methylation in the silencing of Slc5a8 in Hfe−/− cells. Conclusions. RPE cells from iron-overloaded mice exhibit several features of tumor cells: decreased senescence, enhanced migration, increased glucose uptake, and elevated levels of HDACs and DNMTs. These features are seen in Hfe−/− RPE cells as well as in Hjv−/− RPE cells, providing a molecular basis for the hyperproliferative phenotype of Hfe−/− and Hjv−/− RPE cells. PMID:23169885

  5. Loci asociados con enfermedades genéticas y calidad de carne en bovinos Charolais Mexicanos

    Directory of Open Access Journals (Sweden)

    Ana María Sifuentes Rincón

    2015-01-01

    Full Text Available Se determinaron las frecuencias alélicas y genotípicas de ocho marcadores localizados en los genes calpaína (CAPN, 4 751 y 316, calpastatina (CASTT1 y tiroglobulina (TG5, asociados a calidad de carne, y en los genes, m iost atina (MSTN, Q204X, arginino succinato sintasa (ASS, monofosfato sintasa (UMPS y miofosforilasa (PYGM, asocia dos a enfermedade s genéticas de ganado bovino. Se muestrearon 493 animales Charolais de registro de dos hatos ubicado s en Sonora (n=157 y tres en Nuevo León (n=336. No se encontraron portadores de los alelos T-ASS y T-UM PS, pero sí portadores del alelo Q204X del gen MSTN en frecuencias de  1 % en las poblaciones de Sonora y de 8.6 a 14.4 % en las de Nuevo León. Además, se identificaron portadores del marcador del gen PYGM, en frecuencias del 6.5 y de 1.0 % para un hato de Sonora y otro de Nuevo León, respectivamente. El análisis de diferenciación génica p areado entre las poblaciones y con los cuatro loci mostró que hay diferencias altamente significativas dentro de pobl aciones del noroeste ( P <0.0001 y entre éstas y las del noreste ( P <0.001, la cual es explicada principalmente por los loci CAPN-316 y TG5. De acuerdo a los resultados obtenidos se recomienda el monitoreo del marcador del gen PYGM y del ale lo Q204X del gen MSTN, así como también implementar estrategias para confirmar la utilidad de los marcadores asociado s a calidad y productividad como herramienta para complementar los progra mas de mejoramiento genético.

  6. Manipulación genética de seres humanos

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    Manuel Santos Alcántara

    2006-08-01

    Full Text Available El gran avance que ha tenido la Genética en los últimos años y, particularmente, aquello relacionado con el desciframiento del genoma humano, ha traído a la discusión pública la posibilidad concreta de manipular genéticamente a los seres humanos. El mejoramiento o perfeccionamiento genético de los seres humanos, denominado eugenesia, actualmente se ha convertido técnicamente en una realidad, motivando una profunda reflexión de tipo ético. La pregunta básica es la siguiente: aquello que es técnicamente posible de realizar ¿es ético hacerlo? ¿Tienen derecho los padres a acceder a la tecnología genética para mejorar las características de sus hijos? En este artículo se revisan las bases científicas del mejoramiento genético de los seres humanos, y se plantean los cuestionamientos éticos más relevantes derivados de esta manipulación.

  7. The hepcidin gene promoter nc.-1010C > T; -582A > G haplotype modulates serum ferritin in individuals carrying the common H63D mutation in HFE gene.

    Science.gov (United States)

    Silva, Bruno; Pita, Lina; Gomes, Susana; Gonçalves, João; Faustino, Paula

    2014-12-01

    Hereditary hemochromatosis is an autosomal recessive disorder characterized by severe iron overload. It is usually associated with homozygosity for the HFE gene mutation c.845G > A; p.C282Y. However, in some cases, another HFE mutation (c.187C > G; p.H63D) seems to be associated with the disease. Its penetrance is very low, suggesting the possibility of other iron genetic modulators being involved. In this work, we have screened for HAMP promoter polymorphisms in 409 individuals presenting normal or increased serum ferritin levels together with normal or H63D-mutated HFE genotypes. Our results show that the hepcidin gene promoter TG haplotype, originated by linkage of the nc.-1010C > T and nc.-582A > G polymorphisms, is more frequent in the HFE_H63D individuals presenting serum ferritin levels higher than 300 μg/L than in those presenting the HFE_H63D mutation but with normal serum ferritin levels or in the normal control group.Moreover, it was observed that the TG haplotype was associated to increased serum ferritin levels in the overall pool of HFE_H63D individuals. Thus, our data suggest that screening for these polymorphisms could be of interest in order to explain the phenotype. However, this genetic condition seems to have no clinical significance.

  8. Generación de un modelo knock-out del gen SCN1A en Drosophila melanogaster para el estudio del síndrome de Dravet.

    OpenAIRE

    PLANELLS CÁRCEL, ANDRÉS

    2017-01-01

    [ES] El Síndrome de Dravet (SD) es una enfermedad rara infantil que se manifiesta en crisis epilépticas a temprana edad y provoca un deterioro cognitivo y conductual. Esta enfermedad es causada por mutaciones dominantes en el gen SCN1A. Este trabajo se centra en la generación de un modelo knock-out (KO) del gen paralytic en Drosophila melanogaster, homólogo al gen SCN1A en humanos, para su aplicación en el estudio del SD. A la vez se ha estudiado la conducta de cepas sensibles ...

  9. Prevalencia de bacterias Gram negativas portadoras del gen blaKPC en hospitales de Colombia

    Directory of Open Access Journals (Sweden)

    Robinson Pacheco

    2014-04-01

    Full Text Available Introducción. Las enzimas carbapenemasas de tipo KPC tienen gran capacidad de diseminación, son causantes de epidemias y se asocian a mayor mortalidad y estancia hospitalaria. En Colombia se han venido reportando cada vez más desde 2007, pero se desconoce la prevalencia hospitalaria. Objetivo. Estimar la prevalencia hospitalaria del gen blaKPC. Materiales y métodos. Se evaluó la presencia del gen blaKPC y su ‘clonalidad’ en aislamientos de enterobacterias y Pseudomonas aeruginosa de pacientes hospitalizados. Resultados. De los 424 aislamientos evaluados durante el periodo de estudio, 273 cumplieron con criterios de elegibilidad, 31,1 % fue positivo para el gen blaKPC y, al ajustar por ‘clonalidad’, la positividad fue de 12,8 %. El gen blaKPC se encontró con mayor frecuencia en Klebsiella pneumoniae seguido de P. aeruginosa y otras enterobacterias. A pesar de que la unidad de cuidados intensivos aportó el mayor número de aislamientos, no se encontró un patrón más prevalente del gen blaKPC en las ellas que en las otras salas. El aparato respiratorio fue el sitio anatómico de origen con la mayor prevalencia. No se presentó estacionalidad en la frecuencia de los aislamientos portadores del gen blaKPC. Conclusión. Este estudio reveló la alta prevalencia del gen blaKPC en diferentes microorganismos aislados en varias instituciones hospitalarias del país. La extraordinaria capacidad de propagación del gen blaKPC, las dificultades del diagnóstico y la limitada disponibilidad de antibióticos plantean la apremiante necesidad de fortalecer los sistemas de vigilancia epidemiológica y ajustar oportunamente las políticas institucionales de uso racional de antibióticos con el fin de contener su diseminación a otras instituciones de salud del país.

  10. Enfermedades genéticas más frecuentes en pacientes atendidos en consulta de genética clínica

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    Elibett Carcasés Carcasés

    2015-02-01

    Full Text Available La estimación de la prevalencia de las enfermedades genéticas se dificulta, entre otras causas, por su rareza. Se realizó un estudio descriptivo retrospectivo, para identificar las enfermedades genéticas de mayor prevalencia en pacientes atendidos por este programa en el Centro Provincial de Genética Médica de Las Tunas, Cuba; desde el año 1989 hasta julio de 2014. Se revisaron todas las historias clínicas. Predominó el origen monogénico (69 %, siendo los síndromes dismórficos los más numerosos y diversos, entre ellos los neurocutáneos, que representaron el 35 %. La enfermedad genética monogénica con mayor número de casos fue la Neurofibromatosis I con el 14,4 % y el 22,2 % de las enfermedades eran de origen monogénico y dismórfico. La Trisomía 21 representó el 77 % de la causa cromosómica. En el origen multifactorial prevalecieron los defectos congénitos mayores, entre ellos los defectos reductivos de miembros (27 %

  11. Genética de la preeclampsia: una aproximación a los estudios de ligamiento genético.

    Directory of Open Access Journals (Sweden)

    Nora Alejandra Zuluaga

    2004-06-01

    Full Text Available La preeclampsia es considerada un problema de salud pública debido a su alta prevalencia. Muchas investigaciones coinciden en que su origen se relaciona con la interacción entre factores genéticos y ambientales. Por esta razón, múltiples estudios han explorado tales factores genéticos tratando de identificar regiones cromosómicas y genes candidatos cuyas variantes se relacionen con una mayor susceptibilidad a la enfermedad. Diversos estudios de asociación han identificado algunos genes de susceptibilidad a la preeclampsia, pero los resultados no se han replicado consistentemente en todas las poblaciones, quizá por su complejidad clínica y genética. El levantamiento de mapas de genes y regiones cromosómicas basado en análisis de ligamiento ha mostrado resultados interesantes con algunos marcadores en los cromosomas 2 y 4. En este sentido, hay muchas expectativas con respecto a los genes localizados en tales regiones candidatas, debido a que la identificación de los factores de riesgo genético podría ayudar al entendimiento de esta condición y en proveer claves para su prevención y tratamiento.

  12. Justicia en salud y genética

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    Maria Graciela De Ortuzar

    2014-06-01

    Full Text Available Las expectativas puestas en el conocimiento genético exceden el ámbito de la medicina tradiciona, debido a que la intervención directa en la lotería natural demandaría el replanteamiento de conceptos centrales de justicia en salud: necesidades médicas, enfermedad, normalidad, e igualdad de oportunidades en el acceso a la salud. El punto en debate es sí el replanteo de dichos conceptos conlleva un cambio radical en las teorías de justicia (libertariana y/o liberal, mostrando su obsolescencia, o sí simplemente se requiere ampliar dichos conceptos claves por fallas estructurales en las mismas teorías. Como hipótesis general considero que los supuestos cuestionamientos, lejos de socavar las bases de las teorías de justicia, sólo ponen en evidencia sus viejos problemas estructurales. Por razones expositivas, dividiré la presentación tres partes. En la Primera parte, analizo la teoría libertariana, estudiando las contradicciones del modelo a través del impacto de la información genética en el seguro privado de salud. En la Segunda Parte, desarrollo la propuesta alternativa liberal rawlsianadanielsiana del modelo de seguro público, evaluando las implicaciones de la genética a partir de la crítica de su concepto biológico de enfermedad y su restricción al acceso a la salud por necesidades naturales. En la Tercera parte presento un modelo integral de necesidades y capacidades básicas, comprendiendo la prevención, el tratamiento y el mejoramiento moralmente permisible (genético y no genético.Mi aporte principal consiste en la elaboración de este modelo normativo integral de necesidades y capacidades para la regulación conjunta de la información y terapia genética con los restantes problemas de salud.

  13. Variation in the HFE gene is associated with the development of bleomycin-induced pulmonary toxicity in testicular cancer patients.

    Science.gov (United States)

    van der Schoot, Gabriela G F; Westerink, Nico-Derk L; Lubberts, Sjoukje; Nuver, Janine; Zwart, Nynke; Walenkamp, Annemiek M E; Wempe, Johan B; Meijer, Coby; Gietema, Jourik A

    2016-05-01

    Bleomycin and cisplatin are of key importance in testicular cancer treatment. Known potential serious adverse effects are bleomycin-induced pulmonary toxicity (BIP) and cisplatin-induced renal toxicity. Iron handling may play a role in development of this toxicity. Carriage of allelic variants of the HFE gene induces altered iron metabolism and may contribute to toxicity. We investigated the association between two common allelic variants of the HFE gene, H63D and C282Y, with development of pulmonary and renal toxicity during and after treatment with bleomycin- and cisplatin-containing chemotherapy. In 369 testicular cancer patients treated with bleomycin and cisplatin at the University Medical Center Groningen between 1978 and 2006, H63D and/or C282Y genotypes were determined with an allelic discrimination assay. Data were collected on development of BIP, pulmonary function parameters, renal function, and survival. BIP developed more frequently in patients who were heterozygote (16 in 75, 21%) and homozygote (2 in 4, 50%) for the H63D variant, compared with those who had the HFE wild-type gene (31 in 278, 11%) (p = 0.012). Overall survival, testicular cancer-related survival, and change in renal function were not associated with the H63D variant. We observed an association between presence of one or both H63D alleles and development of BIP in testicular cancer patients treated with bleomycin combination chemotherapy. In patients heterozygote and homozygote for the H63D variant, BIP occurred more frequently compared with wild-type patients. When validated and confirmed, HFE H63D genotyping may be used to identify patients with increased risk for pulmonary bleomycin toxicity. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

    Science.gov (United States)

    de Tayrac, Marie; Roth, Marie-Paule; Jouanolle, Anne-Marie; Coppin, Hélène; le Gac, Gérald; Piperno, Alberto; Férec, Claude; Pelucchi, Sara; Scotet, Virginie; Bardou-Jacquet, Edouard; Ropert, Martine; Bouvet, Régis; Génin, Emmanuelle; Mosser, Jean; Deugnier, Yves

    2015-03-01

    Hereditary hemochromatosis (HH) is the most common form of genetic iron loading disease. It is mainly related to the homozygous C282Y/C282Y mutation in the HFE gene that is, however, a necessary but not a sufficient condition to develop clinical and even biochemical HH. This suggests that modifier genes are likely involved in the expressivity of the disease. Our aim was to identify such modifier genes. We performed a genome-wide association study (GWAS) using DNA collected from 474 unrelated C282Y homozygotes. Associations were examined for both quantitative iron burden indices and clinical outcomes with 534,213 single nucleotide polymorphisms (SNP) genotypes, with replication analyses in an independent sample of 748 C282Y homozygotes from four different European centres. One SNP met genome-wide statistical significance for association with transferrin concentration (rs3811647, GWAS p value of 7×10(-9) and replication p value of 5×10(-13)). This SNP, located within intron 11 of the TF gene, had a pleiotropic effect on serum iron (GWAS p value of 4.9×10(-6) and replication p value of 3.2×10(-6)). Both serum transferrin and iron levels were associated with serum ferritin levels, amount of iron removed and global clinical stage (pHFE-associated HH (HFE-HH) patients, identified the rs3811647 polymorphism in the TF gene as the only SNP significantly associated with iron metabolism through serum transferrin and iron levels. Because these two outcomes were clearly associated with the biochemical and clinical expression of the disease, an indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely. Copyright © 2014 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

  15. HFE gene C282Y, H63D and S65C mutations frequency in the Transylvania region, Romania.

    Science.gov (United States)

    Trifa, Adrian P; Popp, Radu A; Militaru, Mariela S; Farcaş, Marius F; Crişan, Tania O; Gana, Ionuţ; Cucuianu, Andrei; Pop, Ioan V

    2012-06-01

    HFE-associated haemochromatosis is one of the most frequent autosomal recessive disorders in the Caucasian population. Although most of the cases are homozygous individuals for the C282Y mutation, another two mutations, H63D and S65C, have been reported to be associated with milder forms of the disease. This study was a first attempt to evaluate the distribution of these HFE gene mutations in the Transylvania region. Two-hundred and twenty-five healthy, unrelated volunteers originating from the Transylvania region, Romania, were screened for the HFE gene C282Y, H63D and S65C mutations, using molecular genetics assays (Polymerase Chain Reaction-Restriction Fragments Length Polymorphism). For the C282Y mutation, 7 heterozygotes (3.1%) were found, but no homozygous individual. In the case of the H63D mutation, 40 heterozygotes (17.8%) and 4 homozygotes (1.75%) for the mutant allele were evidenced. We found a compound heterozygous genotype (C282Y/H63D) in one individual (0.45%). Thus, the allele frequencies of the C282Y and H63D were 1.75% and 10.9%, respectively. Three individuals (1.3%) were found to harbour the S65C mutation in a heterozygous state, but none in a homozygous state: the allele frequency of the mutant allele was 0.75%. The distribution of the HFE gene C282Y, H63D and S65C mutations found in our group matches the tendencies observed in other European countries: a decreasing gradient from Northern to Southern Europe for the C282Y mutation; high frequency for the H63D mutation, and low frequency for the S65C mutation in most of the countries.

  16. The effect of the hemochromatosis (HFE genotype on lead load and iron metabolism among lead smelter workers.

    Directory of Open Access Journals (Sweden)

    Guangqin Fan

    Full Text Available Both an excess of toxic lead (Pb and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking.To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure.Seven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted.Forty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin.No C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

  17. The effect of the hemochromatosis (HFE) genotype on lead load and iron metabolism among lead smelter workers.

    Science.gov (United States)

    Fan, Guangqin; Du, Guihua; Li, Huijun; Lin, Fen; Sun, Ziyong; Yang, Wei; Feng, Chang; Zhu, Gaochun; Li, Yanshu; Chen, Ying; Jiao, Huan; Zhou, Fankun

    2014-01-01

    Both an excess of toxic lead (Pb) and an essential iron disorder have been implicated in many diseases and public health problems. Iron metabolism genes, such as the hemochromatosis (HFE) gene, have been reported to be modifiers for lead absorption and storage. However, the HFE gene studies among the Asian population with occupationally high lead exposure are lacking. To explore the modifying effects of the HFE genotype (wild-type, H63D variant and C282Y variant) on the Pb load and iron metabolism among Asian Pb-workers with high occupational exposure. Seven hundred and seventy-one employees from a lead smelter manufacturing company were tested to determine their Pb intoxication parameters, iron metabolic indexes and identify the HFE genotype. Descriptive and multivariate analyses were conducted. Forty-five H63D variant carriers and no C282Y variant carrier were found among the 771 subjects. Compared with subjects with the wild-type genotype, H63D variant carriers had higher blood lead levels, even after controlling for factors such as age, sex, marriage, education, smoking and lead exposure levels. Multivariate analyses also showed that the H63D genotype modifies the associations between the blood lead levels and the body iron burden/transferrin. No C282Y variant was found in this Asian population. The H63D genotype modified the association between the lead and iron metabolism such that increased blood lead is associated with a higher body iron content or a lower transferrin in the H63D variant. It is indicated that H63D variant carriers may be a potentially highly vulnerable sub-population if they are exposed to high lead levels occupationally.

  18. Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis

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    M.M. Deguti

    2003-06-01

    Full Text Available The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%, average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal limit on average. Serum iron concentration, transferrin saturation and ferritin averages were 99.4 ± 31.3 g/dl, 33.1 ± 12.7% and 219.8 ± 163.8 µg/dl, respectively, corresponding to normal values in 93.5, 68.7 and 78.1% of the patients. Hepatic siderosis was observed in three patients and was not associated with architectural damage (P = 0.53 or with necroinflammatory activity (P = 0.27. The allelic frequencies (N = 31 found were 1.6 and 14.1% for C282Y and H63D, respectively, which were compatible with those described for the local population. In conclusion, no evidence of an association of hepatic iron overload and HFE mutations with NASH was found. Brazilian NASH patients comprise a heterogeneous group with many associated conditions such as hyperinsulinism, environmental hepatotoxin exposure and drugs, but not hepatic iron overload, and their disease susceptibility could be related to genetic and environmental features other than HFE mutations.

  19. Identificación de marcadores microsatelites para el estudio de la diversidad genética de Taenia solium

    OpenAIRE

    Eguiluz Moya, María Lisseth

    2014-01-01

    La diversidad genética en parásitos está orientada hacia el esclarecimiento de la epidemiología y transmisión de las enfermedades. Muchos aspectos de la variación genética de Taenia solium se mantienen aún desconocidos. El estudio de la variación genética de este parásito permitiría comprender las diferencias observadas en la infectividad, patogenicidad y respuesta al tratamiento contra la neurocisticercosis. El polimorfismo de los loci microsatélites es un método utilizado ampliamente para e...

  20. Diagnóstico genético prenatal y aborto. Dos cuestiones de eugenesia y discriminación.

    OpenAIRE

    Villela Cortés, Fabiola; Linares Salgado, Jorge

    2015-01-01

    Los avances en genética seguidos de las nuevas tecnologías en la detección temprana de afecciones genéticas conllevan dilemas bioéticos sobre el uso adecuado de estas técnicas, la información que se le da a la mujer embarazada y la decisión que ella tomará al recibirla. Detectar a tiempo anomalías genéticas permite, en algunas ocasiones, el inicio de un tratamiento adecuado que permita que el niño por nacer no desarrolle una enfermedad discapacitante, como el caso de la fenilcetonuria,...

  1. Sistema genérico de replicación

    OpenAIRE

    Jiménez Ortiz, Raúl

    2014-01-01

    Este proyecto se desarrolla en una de las principales compañías eléctricas de España, y trata sobre la creación de un sistema genérico de replicación de datos. La idea surge de la necesidad de estandarizar la forma de traspasar información entre departamentos o sistemas, debido a que existen gran variedad de interfaces diferentes, y cada vez que surge la necesidad de crear una implica nuevos costes de desarrollo, mantenimiento y futuros evolutivos. Entre los diferentes departamentos de ...

  2. Hemocromatosis gene (HFE) mutations in patients with type 2 diabetes and their control group in an Iranian population

    International Nuclear Information System (INIS)

    Sharifi, F.; Esmaeilzadeh, A.; Zali, M.

    2008-01-01

    Objective was to assess the frequency of 2 different forms of hemochromatosis HFE gene mutations c282y and H63D mutations in a normal population in comparison with type 2 diabetic patients. This case control study was undertaken in Zanjan Diabetic Care Center, Zanjan, western Tehran, in 2005. Two hundred and two individuals were included in this study: 101 type 2 diabetes mellitus T2DM patients and 101 age and gender-matched controls. The patients were examined for mutations in the HFE gene. Nucleotide 845 C282Y and 187 H63D alleles were amplified by polymerase chain reaction PCR with lymphocyte deoxyribonucleic acid. The PCR products were analyzed by restriction enzyme digestion. Chi-square students test and Fisher's exact tests were used for comparison and odds ratio was calculated. Two hundred and two individuals were studied. The frequency of wild /C28Y alleles was 68.3/31.7% in diabetics p=0.08 and 73.4/26.3% in control subjects p=0.08. The distribution of genotypes was not statistically different. Based on our data, HFE mutations were not found in excess in patients with T2DM and there was no evidence that a population-based search for an excess of these alleles in type 2 diabetes was indicated. (author)

  3. Crescimento de genótipos de frangos tipo caipira

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    R. C. Veloso

    2015-10-01

    Full Text Available RESUMOObjetivou-se com este trabalho comparar o padrão de crescimento, mediante ajustes das respectivas curvas de crescimento por modelos não lineares, bem como estudar o desenvolvimento de cortes de carcaça em relação ao peso da carcaça em diferentes genótipos de frangos tipo caipira. Foram utilizados 840 pintos de um dia, machos, distribuídos em delineamento inteiramente ao acaso, dos seguintes genótipos da linhagem Redbro: Caboclo, Carijó, Colorpak, Gigante Negro, Pesadão Vermelho, Pescoço Pelado e Tricolor. As aves foram alojadas em 28 boxes, sendo 30 aves/boxe, em galpão de alvenaria com acesso a um piquete de 45m², com quatro repetições. O peso corporal individual dos frangos foi medido ao nascer, aos 14, 28, 42, 56, 70 e 84 dias de idade. Para a determinação das curvas de crescimento do peso corporal das aves, os dados coletados foram avaliados por meio dos modelos não lineares: Brody, Gompertz, Logístico, Richards e von Bertalanffy. Foi empregado o PROC NLIN do SAS, utilizando-se o método interativo de Gauss-Newton. Os critérios usados para escolha do modelo de melhor ajuste da curva de crescimento foram o coeficiente de determinação, o desvio padrão assintótico, o desvio médio absoluto dos resíduos e o índice assintótico. As análises para obtenção dos coeficientes alométricos foram realizadas por meio do PROC GLM do SAS para os genótipos Carijó, Colorpak, Pesadão Vermelho, Pescoço Pelado e Tricolor. Foram avaliados os pesos da carcaça, do peito, das coxas, das sobrecoxas, das pernas e das asas das aves abatidas aos 85 dias de idade. Apenas as equações propostas por Gompertz, von Bertalanffy e Logístico atingiram a convergência, e o modelo proposto por von Bertalanffy foi o mais adequado para descrever o crescimento dos genótipos de frangos caipiras. Todos os cortes avaliados apresentaram crescimento tardio em relação ao peso da carcaça em genótipos de frangos tipo caipira.

  4. Cultivo in vitro de anteras como estrategia para el mejoramiento genético de buffelgrass (Cenchrus ciliaris L)

    OpenAIRE

    Carloni, Edgardo José

    2016-01-01

    Tesis (Doctor en Ciencias Agropecuarias)--UNC- Facultad de Ciencias Agropecuarias, 2016. Buffelgrass es una gramínea forrajera que se reproduce principalmente por apomixis. El objetivo del presente trabajo es generar variabilidad genética, mediante cultivo in vitro, en caracteres asociados a tolerancia a sequía a partir de germoplasma introducido de buffelgrass, con la finalidad de incorporarla en un programa de mejoramiento genético de esta especie....

  5. Discusión: Explicaciones genéticas y psicológicas de la esquizofrenia. Bases genéticas de la esquizofrenia: "Nurture vrs Nature

    Directory of Open Access Journals (Sweden)

    Henriette Raventós-Vorst

    2003-01-01

    Full Text Available El presente artículo revisa la evidencia científica que muestra la heredabilidad de la esquizofrenia, su forma de herencia compleja y la posible heterogeneidad genética y ambiental. Se presentan las regiones cromosómicas que han sido ligadas a la enfermedad y algunos de los genes candidatos. El objetivo es presentar los resultados más importantes en el campo de la investigación genética de la enfermedad. Aunque se acepta que factores ambientales deben estar presentes en la etiopatogenia de la enfermedad, no se profundiza en ellos. Finalmente, se comenta el modelo lamarquiano sugerido por el Prof.. Bolaños. El fin es transmitir que en la actualidad no hay contradicción entre el modelo biologista o psicológico que explicaban esta enfermedad. La concepción moderna une ambos modelos: se considera una enfermedad del neurodesarrollo en la que participan factores genéticos, factores epigenéticos y noxas ambientales, incluyendo los factores psicosociales.

  6. Selección natural, genética cuantitativa y evolución en culebras

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    Javier Manjarrez Silva

    2001-01-01

    Full Text Available Se describen los conceptos, términos y técnicas empleadas en la genética cuantitativa y la selección natural, en particular de los componentes de la varianza fenotípica y sus técnicas para reducirla. Se utiliza a las serpientes como ejemplo por las características que presentan y se justifica la aplicación de este tipo de estudios, en particular para las estimaciones de la heredabilidad de caracteres cuantitativos de las culebras, con el fin de visualizar su posible base genética e implicaciones evolutivas.

  7. Eventos moleculares, genéticos e inmunológicos durante la interacción VIH-Hombre

    Directory of Open Access Journals (Sweden)

    Carlos Yábar V

    2003-04-01

    Full Text Available En el presente trabajo se hace una revisión de los principales estudios realizados en el aspecto genético, molecular e inmunológico de la interacción VIH-Hombre. Del mismo modo, se citan algunos alcances actuales sobre los progresos en el tratamiento contra el SIDA. Finalmente, se plantean estrategias experimentales que podrían ser aplicadas a la realidad peruana y que permitirían responder algunos vacíos sobre los factores genéticos humanos y virales que influyen sobre la transmisión y progresión de la enfermedad.

  8. Polimorfismos del gen ob en bovinos de raza holstein en la Comarca Lagunera, México

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    Sarai S. Mendoza-Retana

    2017-01-01

    Full Text Available La Comarca Lagunera es la cuenca lechera más importante de México. En la actualidad se están utilizando diversas técnicas que permiten evaluar genéticamente el animal a una edad temprana, permitiendo seleccionar futuros reproductores con características deseables. Entre los genes relacionados con la producción de leche, se encuentran el gen Ob también llamado gen Leptina el cual actúa sobre el sistema nervioso central y tejidos periféricos jugando un papel muy importante en la modulación regulación del apetito, ganancia de peso vivo, incremento del metabolismo energético y el anabolismo muscular. Este trabajo se realizó para determinar el polimorfismo de longitud del fragmento de restricción ACI I de gen leptina en el exón 2 y correlacionarlo con los parámetros de producción y calidad de leche. Se recolectaron 100 muestra de sangre de vacas en producción del establo “Lácteos Florida” de Francisco I. Madero municipio de Coahuila, México con tres esta tus de producción: altas, medias y bajas La extracción de ADN se realizó por el método modificado de Salting - Out. Se realizó PCR del gen leptina originando un fragmento de 272 bp de longitud y se realizó PCR - RFLP con la enzima de restricción ACI I y secue nciación, correlacionando los genotipos TT, CT Y CC con tres estatus de producción de leche: altas, medias, bajas. El análisis estadístico indicó que las vacas portadoras del genotipo homocigoto (TT tienen un efecto significativo (P<0.01 con respecto a l as características de producción y calidad de leche ya que tuvieron un mayor consumo de alimento, ganancia de peso, además de una elevada producción de leche en comparación a los genotipos heterocigoto (CT y homocigoto (CC. Los resultados obtenidos muest ran que l a identificación molecular de polimorfismos del gen Ob puede usarse como herramienta de selección genética en bovinos de raza Holstein.

  9. Genève Reconnaissante

    CERN Multimedia

    2001-01-01

    Robert Cailliau (centre), with Geneva's Mayor Alain Vaissade (left) and Jean Erhardt, Secretary General of the Administrative Council of Geneva (right). Geneva recognised the contribution of two CERN people to the reputation of the city last Tuesday when Mayor Alain Vaissade presented the Genève Reconaissante Medal to Tim Berners-Lee and Robert Cailliau. Berners-Lee, who was not able to be present in person, invented the World Wide Web at CERN just over a decade ago, while Cailliau was his first collaborator. Quoting Cailliau, Vaissade said that whilst there is no doubt that something like the Web would have appeared sooner or later, the fact that it happened at CERN, in Geneva, was no accident. Both the Laboratory and the city are places where people from around the world meet and work in harmony.

  10. Comparación y utilidad de las regiones mitocondriales de los genes 16S y COX1 para los análisis genéticos en garrapatas (Acari: Ixodidae

    Directory of Open Access Journals (Sweden)

    Luis Enrique Paternina

    2016-06-01

    Conclusión. Los resultados indicaron que el gen 16S parece tener mejores características para los análisis filogenéticos interespecíficos dada su alta divergencia genética y baja saturación de transiciones, mientras que el gen COX1 parece ser más útil para estudios de variabilidad genética intraespecífica. Sin embargo, dado que el estudio se hizo a escala local, se requieren más investigaciones en diferentes escalas biogeográficas para establecer su utilidad en circunstancias más amplias y complejas.

  11. Biometria e armazenamento de sementes de genótipos de cacaueiro

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    Lucimara Ribeiro Venial

    2017-03-01

    Full Text Available Genótipos de Theobroma cacao L. devem ser melhor estudados, para se identificar aqueles que produzem sementes mais desenvolvidas e viáveis após o armazenamento. Objetivou-se com este trabalho estudar a biometria e dois tempos de armazenamento de sementes de genótipos de cacaueiro. A biometria foi avaliada em oito genótipos de cacaueiro (tratamentos. Foram instalados testes de germinação em delineamento inteiramente ao acaso, no esquema fatorial 8 x 2 (genótipos: CCN51, PH16, CEPEC2002, Ipiranga, SJ02, PS1319, TSH1188 e Comum x dois períodos de armazenamento: 0 e dois dias. O genótipo TSH1188 apresentou maior comprimento, relação comprimento/largura, espessura e massa de 100 sementes. A absorção de água das sementes recém-colhidas dos genótipos é lenta, justificada pelos altos teores de água, o que não caracteriza padrão-trifásico. Os teores de água reduziram em média 2,3 vezes nas sementes armazenadas em relação às recém-colhidas. A germinação das sementes recém-colhidas dos genótipos foi de 100%. Após o armazenamento, as sementes do PS1319 apresentaram a menor redução da germinação (39%, enquanto as dos PH16, CEPEC2002 e SJ02 reduziram 96%. A velocidade de germinação foi maior e o tempo médio menor que dois dias nas sementes recém-colhidas do PS1319, indicando serem mais tolerante à dessecação. Sugere-se o uso dos genótipos TSH1188 e PS1319 em programas de melhoramento genético.

  12. O futuro da epidemiologia genética de características complexas

    Directory of Open Access Journals (Sweden)

    Feitosa Mary F.

    2002-01-01

    Full Text Available A epidemiologia genética evoluiu de um enfoque em estudos sobre doenças mendelianas raras para a análise genética de características complexas. Com o advento de informações sobre a completa seqüência de genes ao longo do genoma humano e de outros organismos, o interesse da epidemiologia genética em desvendar a natureza dos fatores que influenciam essas características se tornou primordial. São apresentados os principais métodos empregados no estudo de doenças complexas bem como suas principais vantagens e desvantagens. Discute-se a importância na determinação da amostra e o uso de fenótipos e marcadores genéticos apropriados. Como exemplo das estratégias citadas tomamos o estudo de índice de massa corporal (BMI para ilustrar um fator genético principal localizado no cromossomo 7. Em uma discussão sobre tendências no estudo de ligação, embora reconhecendo que famílias e genealogias continuarão sendo o foco principal das amostras, discute-se alguns novos e eficientes tipos de amostragem (como por exemplo, controles não-relacionados em que amostras de conjunto de DNA serão universalmente empregadas. O reconhecimento da heterogeneidade genética entre estudos e sua interpretação será uma das mais importantes características no futuro das análises de características complexas.

  13. Níveis de lisina digestível em rações, utilizando-se o conceito de proteína ideal, para suínos machos castrados de alto potencial genético, dos 30 aos 60 kg Dietary digestible lysine requirements, based on the ideal protein concept, for barrows with high genetic potential from 30 to 60 kg

    Directory of Open Access Journals (Sweden)

    Márvio Lobão Teixeira de Abreu

    2007-02-01

    Full Text Available Objetivou-se determinar o efeito de níveis de lisina digestível, utilizando-se o conceito de proteína ideal, sobre o desempenho e as características de carcaça de 40 leitões machos castrados (peso inicial de 30,02 ± 1,38 kg e peso final 60,44 ± 1,81 kg de alto potencial genético para deposição de carne magra. Os animais foram distribuídos em delineamento de blocos ao acaso, com quatro tratamentos, cinco repetições e dois animais por unidade experimental. Os tratamentos consistiram de uma ração basal (18,08% de PB e 3.250 kcal de EM/kg suplementada com L-lisina HCL, resultando em rações com 0,80; 0,90; 1,00 e 1,10% de lisina digestível. As rações foram suplementadas com níveis crescentes de aminoácidos sintéticos, mantendo-se constantes as relações entre os níveis desses aminoácidos essenciais e os de lisina, com base na digestibilidade verdadeira. Não houve efeito dos tratamentos sobre o consumo de ração, o ganho de peso diário e a concentração de uréia no plasma dos animais. Observou-se comportamento linear da conversão alimentar, que melhorou, e do consumo de lisina digestível diário, que aumentou em função dos níveis de lisina digestível da ração. Os tratamentos não influenciaram as porcentagens de água, proteína e gordura e a deposição de gordura na carcaça dos animais. Os níveis de lisina digestível afetaram de forma linear crescente a deposição de proteína na carcaça. O nível de 1,10% de lisina digestível, correspondente a um consumo de lisina digestível de 21,94 g/dia (3,43 g de Lis/Mcal de EM proporcionou os melhores resultados de desempenho e características de carcaça de suínos machos castrados de alto potencial genético dos 30 aos 60 kg.The effect of increasing dietary digestible lysine levels, based on the ideal protein concept, on performance and carcass characteristics of forty barrows with high genetic potential for lean gain averaging initial and final body weights of

  14. Polimorfismo VAL158MET del gen Catecol-O-Metiltransferasa y características clínicas en primeros episodios de psicosis

    OpenAIRE

    Pelayo Terán, José María

    2011-01-01

    RESUMEN: La esquizofrenia está considerada un síndrome clínico heterogéneo con una etiopatogenia de origen multifactorial, en el que se incluyen factores ambientales, caracteriales y genéticos. A pesar de que más del 50% de la variabilidad de la enfermedad se puede deber a uno o varios factores genéticos, sólo un número limitado de variantes de riesgo genético y con un efecto muy débil han podido ser identificados. Muchos de ellos no han podido reproducirse tanto por la diversidad de las mues...

  15. [The polymorphism of catechol-O-methyltransferase (COMT) and hemochromatosis (HFE) genes in the radiocontaminated regions residents with different chromosome aberration frequency].

    Science.gov (United States)

    Ivanova, T I; Kondrashova, T V; Krikunova, L I; Smirnova, I A; Shentereva, N I; Sychenkova, N I; Rykova, E V; Zharikova, I A; Khorokhorina, V A; Riabchenko, N I; Zamulaeva, I A

    2010-01-01

    The association between polymorphisms in genes COMT, HFE that takes part in oxidative stress regulation, and chromosome aberration frequency in lymphocytes was assessed in 278 female residents of radiation polluted regions of Central Russia: Bryansk (322 kBk/m2) and Tula Districts (137Cs - 171 kBk/m2). The C187G, G845A genotyping of HFE and G1947A (H/L) of COMT was done by means of polymerase chain reaction-restriction fragment length polymorphism. Studied population was divided into 3 subgroups by level of chromosome aberrations per cell (0-2, 3-4, >5). There was shown statistically significant difference in distribution of COMTand HFE genotypes between the groups. The high frequency of chromosome aberrations (> or = 5%) was associated with homozygotes of the high activity COMT G/G and HFE CC. Heterozygotes for G1947A COMT and C187G HFE reveal negative association with the high frequency of chromosome aberrations and correspond to "resistance factors".

  16. Microsatélites, distancias genéticas y estructura de poblaciones nativas sudamericanas

    Directory of Open Access Journals (Sweden)

    Demarchi, Darío Alfredo

    2009-01-01

    Full Text Available En este trabajo se investigaron las relaciones genéticas entre 17 poblaciones nativas sudamericanas en relación a 15 microsatélites (STRs autosómicos, utilizando 3 distancias genéticas- DST, DAy (δu2-que se ajustan a diferentes postulados teóricos. A través de diferentes técnicas de análisis (escalamiento multidimensional, correlación y correlación parcial de matrices se puso a prueba si las distancias genéticas reflejaban las relaciones interpoblacionales esperadas a partir de la distribución geográfica o de relaciones lingüísticas entre las poblaciones. Además, se estimó en que grado las distintas medidas de distancias genéticas eran influenciadas por la diversidad (He de cada población. Los mapas genéticos muestran, principalmente para DST y DA, que las poblaciones aisladas y con bajo tamaño efectivo (Ne aparecen como outliers, mientras que las poblaciones con alto Ne y mayor flujo génico ocupan una posición central a bajos valores de distancia unas de otras y sin un patrón definido de agrupamiento. La falta de asociación entre distancias genéticas y lingüísticas o geográficas y por otra parte, la alta correlación negativa entre He y distancias génicas promedio por población confiman ese patrón, demostrando que la mayor parte de la variación interpoblacional puede ser explicada en función del grado de diversidad intrapoblacional. Es decir, las distancias genéticas no reflejan relaciones filogenéticas, lingüísticas o geográficas, sino más bien eventos demográficos recientes tales como cuellos de botella genético, efecto fundador o migración externa masiva. Este hecho puede ser comprobado por medio de otra metodología analítica, el modelo de Harpending y Ward.

  17. Clasificador genérico de objetos en imágenes AVHRR

    OpenAIRE

    Pascual Ramírez, Fermín; Paz Pellat, Fernando; Martínez Menes, Mario; Palacios Vélez, Enrique; Mejía Sáenz, Enrique; Rubio Granados, Erasmo

    2010-01-01

    El presente artículo describe un algoritmo para llevar a cabo una clasificación genérica de objetos utilizando imágenes del sensor advanced very high resolution radiometer (AVHRR), basado en la firma espectral de los objetos genéricos (suelo, mezcla suelo-vegetación, cuerpos de agua, nubes, etc.). Debido a las particularidades de las bandas disponibles en el sensor AVHRR, se presenta un algoritmo específico utilizando la banda 3a (B3a) y otro utilizando la banda 3b (B3b) de este sensor. Los a...

  18. Caracteres clínico-patológicos y perfil genético en el carcinoma colorrectal

    Directory of Open Access Journals (Sweden)

    Florencia Perazzo

    2013-10-01

    Full Text Available El cáncer colorrectal es el tercer cáncer más frecuente en hombres y el segundo más frecuente en mujeres, con una incidencia mundial aproximada de 1.2 millones de casos nuevos por año. Nuestro objetivo primario fue estudiar la relación existente entre las características clínico-histológicas en individuos con cáncer colorrectal y el estado mutacional de los codones 12 y 13 del gen KRAS (7 mutaciones validadas, con el fin de hallar un marcador histopatológico para los tumores mutados. El objetivo secundario fue determinar cuántos pacientes tenían mutaciones adicionales en los codones 15 y 61 del gen KRAS y 600 del gen BRAF que podrían modificar el fenotipo tumoral. Fueron seleccionados 60 individuos con cáncer colorrectal (30 wild-type y 30 con mutaciones validadas en los codones 12 y 13 del gen KRAS. Se amplificaron y secuenciaron del gen KRAS los exones 2 y 3, y del gen BRAF el exón 15. La información recolectada se examinó mediante un análisis descriptivo, análisis univariado y/o análisis multivariado, según correspondiese. En conclusión, no se encontró relación entre las características clínico-histológicas de los tumores de individuos con diagnóstico de cáncer colorrectal y el estado mutacional de los codones 12 y 13 del gen KRAS. No hallamos un marcador histopatológico para los tumores mutados. En pacientes con adenocarcinomas colorrectales avanzados y KRAS wild-type resulta de interés considerar el estudio del codón 600 del gen BRAF.

  19. Epidemiologia genética: epidemiologia, genética ou nenhuma das anteriores?

    Directory of Open Access Journals (Sweden)

    Aguinaldo Gonçalves

    1990-12-01

    Full Text Available No esforço de contribuir para melhor entendimento da identidade da Epidemiologia Genética, são revistas sua concepção, campo de atuação, métodos e técnicas pertinentes e algumas instâncias de aplicação. Entendendo-a como a área de interesse dos fatores genéticos das doenças e suas interações ambientais, apresenta-se seu campo de atuação como constituído por dois segmentos: um descritivo, que lida com conhecimento da distribuição de tais afecções em famílias e populações, seu impacto a nível do coletivo e sua vigilância epidemiológica, bem como o estudo de seus determinantes; o segundo, caracterizado pela intervenção, refere-se às respectivas medidas preventivas. Em que pese possível limitação pela não-consideração de todas as situações existentes, particular atenção é destinada à revisão de métodos e técnicas que possam ser convergentemente aplicados, a partir de procedimentos genéticos e epidemiológicos. Entre eles, destacam-se como estudos de casos tanto metodologias laboratoriais (como os dermatóglifos quanto quantitativos, como cálculo de herdabilidade e análise multivariada. Alguns objetos de estudo são tomados como instância de aplicação, por contarem com investigações específicas em nosso meio: a hanseníase, o hidrargirismo e a esquizofrenia.In an attempt to contribute to a better undestanding of the identity of Genetic Epidemiology, we review its conception, its field of influence, its appropriate methods and techniques and, at last, some of its applications. Genetic Epidemiology involves the study of genetic factors acting on diseases and on their environmental interactions. These includes two major areas: a descriptive one, related to the distribution of such conditions in families and populations, to the epidemiologic surveillance and to the study of determinants; and another characterized by intervention, which is related to preventive measures. Because of the dificulty in

  20. Is tumor necrosis factor - 376a promoter polymorphism associated with susceptibility to multiple sclerosis? ¿El polimorfismo-376A del promotor del gen del factor de necrosis tumoral se asocia con una mayor susceptibilidad a padecer esclerosis múltiple?

    Directory of Open Access Journals (Sweden)

    Marcelo A. Kauffman

    2007-10-01

    Full Text Available A single nucleotide polymorphism (SNP at position -376 of the tumor necrosis factor á gene (TNFA has been associated with susceptibility to multiple sclerosis (MS in Spain. However, no association was found in populations from the USA and The Netherlands. Here we investigate the association between the TNFA - 376A SNP and MS susceptibility in Argentinean patients with MS. The A/G genotype was found in 4.4% of patients (n=90 and in 4.8% of healthy individuals (n=84; p=0.92; odds ratio=0.93; confidence interval: 0.23- 3.84. Thus, no significant differences in genotype and allele frequencies were found between healthy individuals and patients with MS in Argentina.Un polimorfismo de nucleótido único (SNP, por sus iniciales en inglés en la posición -376 del gen codificante del factor de necrosis tumoral á (TNFA ha sido asociado en España con un mayor riesgo a padecer esclerosis múltiple (EM. Sin embargo, esta asociación no fue encontrada en estudios hechos en poblaciones provenientes de los EE.UU. y Holanda. Aquí investigamos la asociación entre el SNP TNFA -376A y el desarrollo de EM en una población de pacientes argentinos con EM. El genotipo A/G fue encontrado en 4.4% de los pacientes (n=90 y en 4.8% de los controles sanos (n=84; p=0.92; odds ratio=0.93; intervalo de confianza: 0.23-3.84. En consecuencia, no encontramos diferencias en las frecuencias alélicas y genotípicas entre los sujetos enfermos y los controles sanos en Argentina.

  1. Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related hereditary haemochromatosis

    Directory of Open Access Journals (Sweden)

    Barton David E

    2006-11-01

    Full Text Available Abstract Background Hereditary haemochromatosis (HH is a recessively-inherited disorder of iron over-absorption prevalent in Caucasian populations. Affected individuals for Type 1 HH are usually either homozygous for a cysteine to tyrosine amino acid substitution at position 282 (C282Y of the HFE gene, or compound heterozygotes for C282Y and for a histidine to aspartic acid change at position 63 (H63D. Molecular genetic testing for these two mutations has become widespread in recent years. With diverse testing methods and reporting practices in use, there was a clear need for agreed guidelines for haemochromatosis genetic testing. The UK Clinical Molecular Genetics Society has elaborated a consensus process for the development of disease-specific best practice guidelines for genetic testing. Methods A survey of current practice in the molecular diagnosis of haemochromatosis was conducted. Based on the results of this survey, draft guidelines were prepared using the template developed by UK Clinical Molecular Genetics Society. A workshop was held to develop the draft into a consensus document. The consensus document was then posted on the Clinical Molecular Genetics Society website for broader consultation and amendment. Results Consensus or near-consensus was achieved on all points in the draft guidelines. The consensus and consultation processes worked well, and outstanding issues were documented in an appendix to the guidelines. Conclusion An agreed set of best practice guidelines were developed for diagnostic, predictive and carrier testing for hereditary haemochromatosis and for reporting the results of such testing.

  2. HFE Mutations C282Y and H63D in Iranian Population With Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Golchin

    2015-04-01

    Full Text Available Background Type 2 diabetes (T2D is a common metabolic disease caused by insulin secretion defects, which is associated with a variety of complications such as retinopathy, nephropathy, and neuropathy. Objectives Regarding the relationship between type 2 diabetes and hereditary chromatists, we conducted a genetic analysis on two previously reported mutations C282Y and H63D related to the HFE gene in our population. Patients and Methods Altogether, 145 patients with type 2 diabetes and 145 healthy controls were examined. A genotyping assay performed using electrophoresis of the DNA digestion products from MboI and RsaI for H63D and C282Y, respectively. Results Results showed a significant difference between case and controls regarding C282Y (P value < 0.001 and H63D genotypes (P value = 0.013. We also found a relationship between both mutations and nephropathy. Moreover, the difference between C282Y genotypes of patients with retinopathy and healthy controls were statistically significant (P value = 0.020 while there was no association between H63D and retinopathy. In addition, observed differences of both mutations were significant when nephropathic patients compared to the controls. Conclusions Our study showed a significant association between H63D and C282Y mutations and the risk of type 2 diabetes in Iranian population.

  3. Experiments on HFE-7100 pool boiling at atmospheric pressure in horizontal narrow spaces

    Energy Technology Data Exchange (ETDEWEB)

    Guglielmini, G.; Misale, M.; Priarone, A. [Universita degli Studi di Genova (Italy). DIPTEM - Sezione di Termoenergetica e Condizionamento Ambientale

    2009-07-01

    Experiments were performed to examine the pool boiling heat transfer and critical heat flux on a smooth copper circular surface, confined by a face-to-face parallel unheated surface, by changing the gap between the surfaces and the unheated surface diameter. Pool boiling data at atmospheric pressure were obtained for saturated HFE-7100. The gap values investigated, between the boiling surface and the adiabatic one, were s 0.5, 1.0, 2.0, 3.5 mm. To confine the boiling surface, two different Plexiglas plates were used: the former characterised by a diameter D = 60 mm, large as the overall test section support, the latter characterised by a diameter D = 30 mm, large to cover only copper boiling surface (d = 30 mm). For each configuration, boiling curves were obtained up to the thermal crisis. For both different types of confinement, it was observed that the boiling curves match at low wall superheat, except for s = 0.5 mm, 1 mm. However, at high wall superheat, a drastic reduction in heat transfer as well as CHF appears decreasing the channel width s; for all gap sizes, this reduction is less pronounced for the smaller confinement wall (D = 30 mm). Instead, at low wall superheat for gap of 0.5 and 1.0 mm, the heat transfer coefficient is higher for diameter disc of 60 mm. CHF data were also compared with a literature correlation (Misale and al., 2009). (author)

  4. Enfermedades genéticas del ADN mitocondrial humano

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    Solano Abelardo

    2001-01-01

    Full Text Available Las enfermedades mitocondriales son un grupo de trastornos que están producidos por un fallo en el sistema de fosforilación oxidativa (sistema Oxphos, la ruta final del metabolismo energético mitocondrial, con la consiguiente deficiencia en la biosíntesis del trifosfato de adenosina (ATP, por sus siglas en inglés. Parte de los polipéptidos que componen este sistema están codificados en el ácido desoxirribonucleico (DNA mitocondrial y, en los últimos años, se han descrito mutaciones que se han asociado con síndromes clínicos bien definidos. Las características genéticas del DNA mitocondrial, herencia materna, poliplasmia y segregación mitótica, confieren a estas enfermedades propiedades muy particulares. Las manifestaciones clínicas de estas enfermedades son muy heterogéneas y afectan a distintos órganos y tejidos por lo que su correcto diagnóstico implica la obtención de datos clínicos, morfológicos, bioquímicos y genéticos. El texto completo en inglés de este artículo está disponible en: http://www.insp.mx/salud/index.html

  5. Diversidad genética de poblaciones de ajo (Allium sativum L. cultivadas en Guatemala, definida por marcadores de ADN

    Directory of Open Access Journals (Sweden)

    Fredy Uber Rosales-Longo

    2007-01-01

    Full Text Available Diversidad genética de las poblaciones de ajo (Allium sativum L. cultivadas en Gua temala, definida por mar cado res de ADN. En Guatemala es escasa la in for ma ción sobre la diversidad genética de ajo. Los objetivos del estudio fueron: incidir en el mejoramiento de Allium sativum, so bre la base del conocimiento de su variabilidad genética, así mismo, establecer una colección in vi tro de la co lec ción de las poblaciones cultivadas en Guatemala. Los experimentos fueron realizados entre octubre de 2005 y marzo de 2006. La determinación de las variaciones de ADN se realizaron me dian te la téc ni ca de AFLP™. La información se analiza por medio de análisis de componentes principales, análisis de coordenadas principales y análisis de conglomerados. Mediante la inspección de los pro duc tos de AFLP™ y análi sis estadísticos, se detectó una alta variabilidad genética entre los materiales vegetales colectados. Las muestras clasificadas co mo del ti po “Chi leno”, correspondieron a los tipos “Criollo”. Nueve bien diferenciados grupos genéticos se conformaron en un dendrograma y se con fir mó que la diversidad genética descubierta es una función del lugar don de se cul ti van las po bla cio nes de ajo. Se identificó una mayor diversidad genética entre las mues tras de ajo del ti po “Crio llo” que las que se tienen en tre los ma te ria les del ti po “Chileno”, como producto de la mayor dispersión espacial de los primeros. Los materiales genéticos de ajo se encuentran actualmente preservados en un Banco de Germoplasma in vi tro en la Uni dad de Bio tec no lo gía del IC TA.

  6. Caracterização de genótipos de cebola com a utilização de marcadores moleculares RAPD

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    Gerson Henrique Wamser

    Full Text Available A divergência genética foi avaliada entre quinze genótipos de cebola cultivados em Santa Catarina, com a utilização de marcadores moleculares RAPD. Onze oligonucleotídeos iniciadores da série Operon Technologies foram utilizados e produziram 35 marcadores, destes, 28 foram polimórficos. Os produtos da amplificação foram visualizados em gel de agarose 1,4%, corado com brometo de etídeo. Uma matriz de similaridade utilizando-se o coeficiente de Jaccard foi construída a partir dos dados moleculares. Um dendrograma foi gerado para melhor visualização da similaridade genética através do método de agrupamento UPGMA. Três grupos foram formados utilizando o coeficiente de similaridade 0,6 como ponto de corte. O primeiro grupo reuniu os genótipos Super Superprecoce e Gauchinha. O segundo grupo reuniu doze genótipos. Dentro desse grupo, os genótipos Bella Vista e Bella Dura foram os que apresentaram o maior coeficiente de similaridade, em torno de 0,89. Bela Vista e Superprecoce, Catarina e o híbrido Bella Vista, com coeficiente de similaridade de 0,88 entre os pares. O terceiro grupo apresentou apenas o genótipo Crioula Roxa, que obteve o menor valor (0,31 para o coeficiente de similaridade. Tendo em vista os resultados obtidos, cruzamentos entre os genótipos do primeiro e segundo grupo e destes com o genótipo Crioula Roxa, podem ser melhores por apresentarem maior divergência entre si. A técnica de RAPD mostrou-se eficaz na caracterização molecular dos genótipos de cebola, evidenciando que existe variabilidade entre os genótipos estudados.

  7. Genética molecular de caracteres cuantitativos en cruzamientos dialélicos de tomate

    Directory of Open Access Journals (Sweden)

    Guillermo Raúl Pratta

    2011-05-01

    Full Text Available El objetivo de este trabajo fue evaluar marcadores moleculares y caracteres cuantitativos en un cruzamiento dialélico completo sin recíprocos, entre cinco líneas recombinantes de tomate y sus híbridos. Se obtuvieron perfiles de AFLP ("amplified fragment length polymorphism" y de polipéptidos del pericarpio en cuatro estados de madurez del fruto de 15 genotipos. Se evaluaron, entre otros: peso, acidez titulable, pH, vida poscosecha y firmeza. Se calculó el porcentaje de polimorfismo para los marcadores moleculares y el porcentaje de variabilidad genética para los caracteres cuantitativos en el grupo de líneas recombinantes, el de híbridos y el conjunto de genotipos. Se realizaron análisis de agrupamiento con cada nivel de variación genética. Para AFLP, el porcentaje de polimorfismo varió entre 34 y 54% y, para los perfiles polipeptídicos, entre 40 y 78%. Mayor polimorfismo fue observado en el grupo de híbridos. La variabilidad genética fue de 100% para acidez y 34% para firmeza, con los mayores valores en los parentales. La similitud genética varió entre los genotipos según el nivel de variación genética; pero la consistencia en el agrupamiento de algunas líneas recombinantes y sus híbridos fue conservada, lo que evidenció asociaciones entre los datos moleculares y fenotípicos.

  8. Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands

    DEFF Research Database (Denmark)

    Milman, Nils; á Steig, Torkil; Koefoed, Pernille

    2004-01-01

    on the HFE gene was assessed by genotyping using the polymerase chain reaction (PCR) technique and calculated from direct allele counting. We found no C282Y homozygous subjects; 28 (14.0%) subjects were C282Y heterozygous and four subjects were C282Y/H63D compound heterozygous (2.0%). The C282Y allele......The aim of the study was to assess the frequencies of the hereditary hemochromatosis HFE mutations C282Y, H63D, and S65C in the population in the Faroe Islands. The series comprised 200 randomly selected blood donors of Faroese heritage. The frequency of the C282Y, H63D, and S65C mutations.......6%. Screening of larger groups of the Faroese population for HFE mutations especially C282Y should be considered in order to establish the penetrance....

  9. Salud pública, genética y ética

    Directory of Open Access Journals (Sweden)

    Kottow Miguel H

    2002-01-01

    Full Text Available La investigación genética ha tenido una enorme expansión en recientes décadas, con repercusiones terapéuticas aún inciertas. El análisis bioético tradicional de las complejas prácticas genéticas ha sido insuficiente por sostenerse en la ética de la investigación y en la bioética de corte principialista. Los problemas éticos más importantes de la genética son de orden colectivo y deben ser abordados por una reflexión ético-social cuyo enfoque es más amplio que la agenda interpersonal del principialismo. Temas como exploraciones genéticas, cuestiones patrimoniales, manipulación génica y asignación de recursos, deben todos ser sometidos a un pensamiento inspirado en los requerimientos de la ciudadanía, en el bien común y en la definición del rol del Estado en fiscalizar actividades genéticas y en proteger a la población. El objetivo del estudio es mostrar cómo el amplio campo de la ética y de la genética tiene una mayor relevancia en el campo social que en el clínico. El objetivo del trabajo es señalar que la bioética principialista ha enfatizado los problemas éticos individuales que nacen con la intervención genética, a costa de marginar sus importantes repercusiones sociales.

  10. Salud pública, genética y ética

    Directory of Open Access Journals (Sweden)

    Miguel H Kottow

    2002-10-01

    Full Text Available La investigación genética ha tenido una enorme expansión en recientes décadas, con repercusiones terapéuticas aún inciertas. El análisis bioético tradicional de las complejas prácticas genéticas ha sido insuficiente por sostenerse en la ética de la investigación y en la bioética de corte principialista. Los problemas éticos más importantes de la genética son de orden colectivo y deben ser abordados por una reflexión ético-social cuyo enfoque es más amplio que la agenda interpersonal del principialismo. Temas como exploraciones genéticas, cuestiones patrimoniales, manipulación génica y asignación de recursos, deben todos ser sometidos a un pensamiento inspirado en los requerimientos de la ciudadanía, en el bien común y en la definición del rol del Estado en fiscalizar actividades genéticas y en proteger a la población. El objetivo del estudio es mostrar cómo el amplio campo de la ética y de la genética tiene una mayor relevancia en el campo social que en el clínico. El objetivo del trabajo es señalar que la bioética principialista ha enfatizado los problemas éticos individuales que nacen con la intervención genética, a costa de marginar sus importantes repercusiones sociales.

  11. Consejo Genético En El Cáncer De Mama Y En El Cáncer De Colon

    Directory of Open Access Journals (Sweden)

    2011-07-01

    Se aboga por la creación de una Unidad de Cáncer Familiar en la CAPV y se avanzan las características a tener en cuenta en el proceso clínico asistencial que desarrollaría esa Unidad, en tres aspectos claves: la identificación de los pacientes y la consulta de consejo genético, el estudio genético y el seguimiento de pacientes y familiares. Se señalan los recursos humanos y organizativos que se consideran necesarios para esa Unidad de Cáncer Familiar y se recomienda su coordinación con otras unidades asistenciales del sistema sanitario público, como son los Servicios de Oncología, Ginecología, Digestivo y laboratorios implicados.

  12. Diversidad genética y estructura de la población de Vibrio choierae en Colombia

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    Riaño Pachón Diego Mauricio

    2003-06-01

    Full Text Available Se realizó la electroforesis en gel por campo pulsado (PFGE de los macrofragmentos de restricción de 34 aislamien­tos de Vibrio choierae pertenecientes a la epidemia de cólera que se presentó en Colombia entre 1991 y 1996, adicionalmente se analizaron 3 aislamientos de V. choierae no pertenecientes a esta epidemia y un aislamiento de V fluvialis. La diversidad genética observada para los 38 aislamientos tipificados fue de 0,95 valor muy similar al obtenido por Electroforesis de Enzimas Multilocus (MLEE. No se observó correlación entre las variables que carac­terizan a estos aislamientos (serotipo, origen [clínico o ambiental], departamento, tipo electroforético (MLEE y perfil de macrofragmentos de restricción (PFGE. No se obtuvo evidencia de desequilibrio de ligamiento al evaluar esta población con los marcadores genéticos PFGE y MLEE. Se sugiere que la población de Vibrio choierae en Colom­bia presenta una estructura genética sexual, hipótesis que está soportada por la falta de evidencia de desequilibrio de ligamiento y la ausencia de correlaciones entre las variables epidemiológicas, bioquímicas y moleculares a dispo­sición, y por el alto valor de diversidad genética obtenido, que puede ser el reflejo de la coexistencia de varias líneas de descendencia entre las cuales existe un alto flujo genético. Palabras clave: Vibrio choierae; Electroforesis en gel por campo pulsado; epidemiología molecular; genética de po­blaciones; desequilibrio de ligamiento.

  13. Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin.

    Science.gov (United States)

    Latour, Chloé; Besson-Fournier, Céline; Meynard, Delphine; Silvestri, Laura; Gourbeyre, Ophélie; Aguilar-Martinez, Patricia; Schmidt, Paul J; Fleming, Mark D; Roth, Marie-Paule; Coppin, Hélène

    2016-01-01

    Hereditary hemochromatosis, which is characterized by inappropriately low levels of hepcidin, increased dietary iron uptake, and systemic iron accumulation, has been associated with mutations in the HFE, transferrin receptor-2 (TfR2), and hemojuvelin (HJV) genes. However, it is still not clear whether these molecules intersect in vivo with bone morphogenetic protein 6 (BMP6)/mothers against decapentaplegic (SMAD) homolog signaling, the main pathway up-regulating hepcidin expression in response to elevated hepatic iron. To answer this question, we produced double knockout mice for Bmp6 and β2-microglobulin (a surrogate for the loss of Hfe) and for Bmp6 and Tfr2, and we compared their phenotype (hepcidin expression, Bmp/Smad signaling, hepatic and extrahepatic tissue iron accumulation) with that of single Bmp6-deficient mice and that of mice deficient for Hjv, alone or in combination with Hfe or Tfr2. Whereas the phenotype of Hjv-deficient females was not affected by loss of Hfe or Tfr2, that of Bmp6-deficient females was considerably worsened, with decreased Smad5 phosphorylation, compared with single Bmp6-deficient mice, further repression of hepcidin gene expression, undetectable serum hepcidin, and massive iron accumulation not only in the liver but also in the pancreas, the heart, and the kidneys. These results show that (1) BMP6 does not require HJV to transduce signal to hepcidin in response to intracellular iron, even if the loss of HJV partly reduces this signal, (2) another BMP ligand can replace BMP6 and significantly induce hepcidin expression in response to extracellular iron, and (3) BMP6 alone is as efficient at inducing hepcidin as the other BMPs in association with the HJV/HFE/TfR2 complex; they provide an explanation for the compensatory effect of BMP6 treatment on the molecular defect underlying Hfe hemochromatosis in mice. © 2015 by the American Association for the Study of Liver Diseases.

  14. Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies

    Directory of Open Access Journals (Sweden)

    M. Li

    2014-03-01

    Full Text Available Iron homeostasis dysregulation has been regarded as an important mechanism in neurodegenerative diseases. The H63D and C282Y polymorphisms in the HFE gene may be involved in the development of sporadic amyotrophic lateral sclerosis (ALS through the disruption of iron homeostasis. However, studies investigating the relationship between ALS and these two polymorphisms have yielded contradictory outcomes. We performed a meta-analysis to assess the roles of the H63D and C282Y polymorphisms of HFE in ALS susceptibility. PubMed, MEDLINE, EMBASE, and Cochrane Library databases were systematically searched to identify relevant studies. Strict selection criteria and exclusion criteria were applied. Odds ratios (ORs with 95% confidence intervals (CIs were used to assess the strength of associations. A fixed- or random-effect model was selected, depending on the results of the heterogeneity test. Fourteen studies were included in the meta-analysis (six studies with 1692 cases and 8359 controls for C282Y; 14 studies with 5849 cases and 13,710 controls for H63D. For the C282Y polymorphism, significant associations were observed in the allele model (Y vs C: OR=0.76, 95%CI=0.62-0.92, P=0.005 and the dominant model (YY+CY vs CC: OR=0.75, 95%CI=0.61-0.92, P=0.006. No associations were found for any genetic model for the H63D polymorphism. The C282Y polymorphism in HFE could be a potential protective factor for ALS in Caucasians. However, the H63D polymorphism does not appear to be associated with ALS.

  15. Progress of Design Improvements for APR1400 Computerized Procedure System from HFE V and V results and Design Experience

    International Nuclear Information System (INIS)

    Lee, Sungjin; Seong, Nokyu

    2015-01-01

    This study shows major already improved design features from the above three processes and a design proposal for to-be-improving items. APR1400 CPS has been verified and validated by the HFE process, internal design review and site acceptance tests. APR1400 Computerized Procedure System (CPS) has been applied to Shin-Kori Nuclear Power Plant (SKN) 3 and 4 units, Shin-Hanul Nuclear Power Plant (SHN) 1 and 2 units and Baraka Nuclear Power Plant (BNPP) 1, 2, 3 and 4 units. Since APR1400 CPS is a first-of-a-kind (FOAK) human machine interface (HMI) for executing a computerized procedure in the nuclear power plant's main control room in South Korea, it has been continuously improved through a) the human factor engineering (HFE) verification and validation (V and V), b) the internal design review and c) prototype tests. Human engineering discrepancies (HEDs) can be identified by the HFE V and V activity. Some HEDs of APR1400 CPS for SKN 3 and 4 and SHN 1 and 2 have been adopted as a role of design improvement in the CPS system while others were regarded as an operator training requirement or part of task contents. Various requests for improving the CPS have been collected from those results. A HMI system should be improved continuously for removing potential defects. Some of introduced design features in this paper has been adopted for APR1400 nuclear power plants. Some of them are under the review in the CPS design team of KHNP

  16. HFE C282Y and H63D in adults with malignancies in a community medical oncology practice

    International Nuclear Information System (INIS)

    Barton, James C; Bertoli, Luigi F; Acton, Ronald T

    2004-01-01

    We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls. Data from patients with more than one malignancy were analyzed according to each primary malignancy. For the present study, OR ≥2.0 or ≤0.5 was defined to be increased or decreased, respectively. There were 110 primary malignancies (52 hematologic neoplasms, 58 carcinomas) in the 100 adult patients. Allele frequencies were similar in patients and controls (C282Y: 0.0850 vs. 0.0896, respectively (OR = 0.9); H63D: 0.1400 vs. 0.1447, respectively (OR = 0.9)). Two patients had hemochromatosis and C282Y homozygosity. With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4). With H63D, increased OR occurred in myeloproliferative disorders and adenocarcinomas of breast and prostate (2.4, 2.0, and 2.0, respectively); OR was decreased in non-Hodgkin lymphoma and B-chronic lymphocytic leukemia (0.5 and 0.4, respectively). In 100 consecutive adults with malignancy evaluated in a community medical oncology practice, frequencies of HFE C282Y or H63D were similar to those in the general population. This suggests that C282Y or H63D is not associated with an overall increase in cancer risk. However, odds ratios computed in the present study suggest that increased (or decreased) risk for developing specific types of malignancy may be associated with the inheritance of HFE C282Y or H63D. Study of more patients with these specific types of malignancies is needed to determine if trends described herein would remain and yield significant differences

  17. Recuento histórico de la Bioética en la Genética Médica

    Directory of Open Access Journals (Sweden)

    Rosa María González Salvat

    2002-10-01

    Full Text Available El trabajo presentado se enmarca en el campo de la bioética dentro de la Genética Médica. Se realiza una revisión de su desarrollo histórico relacionándolo con el surgimiento del asesoramiento genético y su aplicación en los diferentes niveles de atención al paciente.The present paper is within the field of bioethics corresponding to Medical Genetics. A review of its historical development is made, relating it to the appearance of the genetic counselling and to its application at the different health care levels.

  18. Respuesta del Tumor Venéreo Transmisible Canino a Presentaciones de Vincristina de Patente y Genérica

    OpenAIRE

    Susana Miguel De la Cruz

    2015-01-01

    El objetivo del presente estudio fue comparar la respuesta de perros infectados naturalmente con el Tumor Venéreo Transmisible (TVTc) al tratamiento con vincristina comercial de patente y genérica. Se trabajó con 12 perros infectados naturalmente y con diagnóstico por citología y PCR. Los perros fueron asignados aleatoriamente a un tratamiento semanal con 0.025 mg/kg de vincristina de patente comercial o de tipo genérico, hasta que dos citologías consecutivas resultaran negativas. Se hicieron...

  19. Célula del SMF modificada genéticamente para sobreexpresar NGAL y su uso como medicamento

    OpenAIRE

    Hotter, Georgina; Jung, Michaela; Solà, Anna M.

    2009-01-01

    Célula del SMF modificada genéticamente para sobreexpresar NGAL y su uso como medicamento. La presente invención se encuadra dentro del campo de la biomedicina. Específicamente, la presente invención se refiere a una célula del Sistema Mononuclear Fagocítico o SMF, preferiblemente un monocito o un macrófago, modificada genéticamente para sobreexpresar la lipocalina asociada a gelatinasa de neutrófilos (NGAL, en sus siglas en inglés), a un método para su obtención y a s...

  20. Polimorfismo genético relacionado con la probabilidad de desarrollar asma ocupacional en trabajadores expuestos a isocianatos

    Directory of Open Access Journals (Sweden)

    Gaetano Pepe Betancourt

    2014-03-01

    Full Text Available Introducción: El desarrollo tecnológico ha traído como consecuencia el uso de sustancias químicas potencialmente perjudiciales para la salud de los trabajadores. Particularmente el uso de isocianatos ha resultado en una mayor morbilidad de patología respiratoria, especialmente el asma. Considerando que no todos los trabajadores expuestos desarrollan la enfermedad se ha propuesto un modelo de interacción gen-medioambiental, el cual trata de explicar la predisposición genética que tienen algunos individuos a desarrollar asma ocupacional y otros no. Objetivo: Conocer la evidencia científica relacionada con el polimorfismo genético y la susceptibilidad que tienen los trabajadores expuestos a isocianatos a desarrollar asma ocupacional. Metodología: Se realizó una revisión sistemática mediante una búsqueda bibliográfica utilizando las bases de datos PubMedline, así como en los repositorios Dialnet y ELSEVIER. Se extrajeron los artículos relacionados al objetivo de esta revisión, no se aplicaron filtros de temporalidad, utilizándose los siguientes descriptores: MeSH Major Topic, MeSH Terms. El periodo de búsqueda fue desde el 20 de noviembre de 2013 y finalizó el 15 de diciembre de 2013. El nivel de evidencia se estableció de acuerdo a los criterios GRADE. Resultados: Se analizaron a texto completo 42 artículos, la evidencia científica se sustentó en 11 estudios de casos-controles. Dada la complejidad del polimorfismo genético asociado con la expresión fenotípica de la enfermedad, como limitación de los estudios, los autores coinciden que el tamaño muestral no es suficientemente grande, sin embargo después de ajustar los factores de confusión los artículos encontrados tuvieron un nivel de evidencia B de GRADE. Conclusión: La genética tiene una influencia significativa en el asma ocupacional inducida por isocianatos. El peso de la susceptibilidad genética y de la interacción gen-medioambiente aún no se han

  1. Aspectos médicos, genéticos y psicosociales del síndrome Usher

    OpenAIRE

    Dyce Gordon, Elisa; Mapolón Arcendor, Yolanda; Santana Álvarez, Jorge

    2011-01-01

    Fundamento: el síndrome Usher es una enfermedad genética, que se caracteriza por hipoacusia neurosensorial progresiva bilateral congénita, pérdida de visión debida a la retinosis pigmentaria y en ocasiones presenta también trastornos vestibulares. Objetivo: describir los principales aspectos médicos, genéticos y psicosociales presentes en los pacientes con síndrome Usher. Método: se realizó un estudio descriptivo transversal en 14 pacientes con diagnóstico de síndrome Usher atendidos en el Ce...

  2. 25 Años de Historia de la Genética Médica en la Universidad Javeriana.

    OpenAIRE

    Martalucía Tamayo Fernández

    2005-01-01

    Libros de Medicina El Instituto de Genética Humana cumple 25 años y casi que no se sintieron, es difícil de creer. Ya han pasado 25 años desde que el Dr. Jaime Bernal Villegas regresara de su doctorado en Inglaterra e iniciara el transcurrir de la Genética Médica en la Universidad Javeriana. Pero lo que muchos desconocen es que esa historia se inició en la Javeriana mucho antes. Hay una historia detrás de la historia. ¿Qué es lo que más nos sorprende de todo ...

  3. Evolución genómica por diseño molecular de levaduras industriales

    OpenAIRE

    SANI, DANIELE

    2013-01-01

    En esta Tesis Doctoral se propone una alternativa a la coyuntura actual de rechazo social frente al uso de OMGs en la industria agroalimentaria, mediante la demostración y el desarrollo de un nuevo concepto sobre el uso de las técnicas de biología molecular en la obtención de levaduras modificadas genéticamente, el concepto de Evolución Genómica mediante Diseño Molecular. La idea básica de este nuevo concepto es simple y se basa en imitar a la propia naturaleza en su const...

  4. Estudio molecular del gen MLL en 30 pacientes con leucemias agudas Molecular study of MLL gen in 30 patients with acute leukemias

    Directory of Open Access Journals (Sweden)

    Raquel Levón Herrera

    2000-04-01

    Full Text Available Los reordenamientos del gen MLL en la banda cromosómica 11q23 son frecuentes en leucemias agudas (LA en niños y en las LA secundarias desarrolladas después de la terapia con inhibidores de la enzima topoisomerasa II. En menor medida también se aprecia en adultos con LA. La presencia de estos reordenamientos se considera un indicador de mal pronóstico asociado con resultados clínicos desfavorables, por ello es muy importante realizar su determinación en las LA. En este trabajo mostramos los resultados preliminares de la introducción del estudio del gen MLL en nuestro país mediante la técnica de Southern. Analizamos ADN de 30 pacientes con LA, incluidos niños y adultos, que en el momento del estudio se encontraban al debut o en recaída. El estudio molecular se realizó con la sonda FA4, que es un inserto genómico del gen MLL. Sólo uno de los 30 pacientes mostró bandas de reordenamiento con 2 enzimas de restricción diferentes, el resto mostró el gen MLL en configuración germinal. Es interesante destacar que el paciente con el reordenamiento era un niño con leucemia mieloblástica aguda subtipo M5b, lo cual concuerda con la literatura, donde se describe que estos reordenamientos están estrechamente correlacionados con los subtipos mielomonocítico (M4 y monocítico (M5 de leucemia mieloide aguda (LMARearrangements of MLL gen in llq23 chromosomal band are frequents in childhood type of acute leukemia (AL and in secondary AL, developed after therapy with II topoisomerase enzyme. To a lesser extent also is seen in adults with AL. Presence of theses rearrangements is considered to be a worse prognosis indicator, associated with unfavourable clinical results, that is why it is very important to carry our its assessment in AL. In this paper authors present preliminary results from introduction of study on MLL gen in our country through Southern technique. DNA from 30 patients was analized, including children and adults, that at the

  5. Frequency of the Hemochromatosis Gene (HFE Variants in a Jordanian Arab Population and in Diabetics from the Same Region

    Directory of Open Access Journals (Sweden)

    Asem Alkhateeb

    2009-01-01

    Full Text Available Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload. In this study we performed mutation analysis to identify allele frequency of the three variants of HFE gene in Jordanian Arab population, to assess deviations of these frequencies from those detected elsewhere, and to determine if there is an increased frequency of these variants in a diabetic population (Type 2 diabetes from the same area. DNA was extracted from blood samples of 440 individuals attending King Abdullah University Hospital for ambulatory services. We used polymerase chain reaction (PCR to amplify exons 2 and 4 of the HFE gene then restriction fragment length polymorphism (RFLP method to detect the variants. There were neither homozygous nor heterozygous for C282Y variant. For the H63D variant, 0.68% were homozygous and 21.1% were heterozygous. For the S65C variant, there were no homozygous and 0.23% were heterozygous. Allelic frequencies were, 0%, 11.25%, and 0.11% for C282Y, H63D, and S65C, respectively. Our samples were subdivided into two categories of type 2 diabetic (89 cases and controls (blood donors, 204 cases and compared with regard to the H63D variant. Both groups did not have homozygous H63D variant. H63D heterozygous in diabetics were 23.60% and in blood donor controls 22.55%. Allelic frequency of the mutant H63D allele was 11.80% in diabetics and 11.27% for the blood donor controls. This is the first study to show the frequency of the three hemochromatosis gene variants in Jordan with the interesting

  6. Unleashing Gen Y: Marketing Mars to Millennials

    Science.gov (United States)

    Leahy, Bart D.; Hidalgo, Loretta; Kloberdanz, Cassie

    2007-01-01

    Space advocates need to engage Generation Y (born 1977-1999).This outreach is necessary to recruit the next generation of scientists and engineers to explore Mars. Space advocates in the non-profit, private, and government sectors need to use a combination of technical communication, marketing, and politics, to develop messages that resonate with Gen Y. Until now, space messages have been generated by and for college-educated white males; Gen Y is much more diverse, including as much as one third minorities. Young women, too, need to be reached. My research has shown that messages emphasizing technology, fun, humor, and opportunity are the best means of reaching the Gen Y audience of 60 million (US population is 300 million). The important things space advocates must avoid are talking down to this generation, making false promises, or expecting them to "wait their turn" before they can participate. This is the MTV generation! We need to find ways of engaging Gen Y now to build a future where human beings can live and work on the planet Mars. In addition to the messages themselves, advocates need to keep up with Gen Y' s social networking and use of iPods, cell phones, and the Internet. NASA and space advocacy groups can use these tools for "viral marketing," where young people share targeted space-related information via cell phones or the Internet because they like it. Overall, Gen Y is a socially dynamic and media-savvy group; advocates' space messages need to be sincere, creative, and placed in locations where Gen Y lives. Mars messages must be memorable!

  7. Genética de las epilepsias Genetics of epilepsy

    Directory of Open Access Journals (Sweden)

    Gustavo A. Charria-Ortiz

    2007-01-01

    Full Text Available En años recientes se ha podido definir con gran exactitud la existencia de alteraciones genéticas específicas en una gran variedad de síndromes epilépticos tradicionales. Es decir, por vez primera se ha podido relacionar de manera contundente y predecible la presencia de alteraciones genómicas y/o proteómicas con síndromes epilépticos antes considerados como "idiopáticos". La gran mayoría de dichos defectos han sido encontrados en genes codificadores para canales iónicos y/o receptores de membrana, lo cual en cierto modo confirma la ya antes postulada relevancia que estas estructuras tienen en la actividad electroquímica espontánea neuronal cuyo desajuste conllevaría a ciertas formas de epilepsia. Esta revisión se centra en los aspectos genéticos y clínicos de dichas condiciones y alteraciones. También se revisarán brevemente los estudios más relevantes de la literatura médica según los cuales -aun a pesar de no haberse definido con la misma exactitud el tipo de anomalías etiológicas- puede tranquilamente inferirse el gran componente genético que parece subyacer a la etiología de las epilepsias. Por ultimo se enfatizará en que a pesar de dichos descubrimientos, su aplicación en la práctica clínica diaria aun es muy limitada, no solo por la relativa rareza de algunos de tales síndromes neurológicos sino también por la poca relevancia que hasta ahora ellos han tenido en el manejo médico rutinario de la mayoría de los pacientes. Las posibilidades inmediatas de tales avances -incluida la farmacogenómica-, así como los posibles conflictos éticos en que se podría incurrir serán también brevemente discutidos.In the last few years, the presence of specific genetic abnormalities leading to some of the classical epileptic syndromes has been clearly elucidated. This means that for the first time, it has become possible to create a strong relationship between the presence of specific genomic and/or proteomic

  8. Polimorfismos del gen BoLA-DRB3.2* en ganado criollo colombiano

    Directory of Open Access Journals (Sweden)

    Darwin Hernández H.

    2013-10-01

    Full Text Available Objetivo. Caracterizar el polimorfismo del gen BoLA-DRB3.2* en las razas bovinas criollas y colombianas. Materiales y métodos. En 360 muestras de ADN de ocho razas bovinas criollas (Blanco Orejinegro, Casanareño, Costeño con Cuernos, Chino Santandereano, Caqueteño, Hartón del Valle, Romosinuano y San Martinero, dos razas sintéticas Colombianas (Lucerna y Velásquez y dos razas foráneas (Brahman y Holstein se evaluó el polimorfismo del gen BoLA-DRB3.2 mediante técnicas moleculares (PCR-RFLP; se calculó el número promedio de alelos (NPA, las frecuencias, la heterocigocidad esperada (He y observada (Ho, el equilibrio de Hardy-Weinberg, la estructura genética y los valores de FST y FIS. Resultados. El NPA fue 14.6 ± 3.8 siendo Caqueteño la raza con mayor NPA (25 y el menor el Chino Santandereano (10. Se encontraron 41 alelos BoLA-DRB3.2* los más frecuentes fueron *28, *37, *24, *23, *20, *27, *8, *16, *39 (0.17, 0.11, 0.10, 0.09, 0.09, 0.07, 0.07 y 0.06 respectivamente. Se encontró alta diversidad genética (He = 0.878 con mayor valor en Caqueteño (0.96 y menor en San Martinero (0.81. Todas las razas se encontraron en equilibrio de Hardy-Weinberg, se encontraron valores altamente significativos de diferenciación genética (FST= 0.044 y de coeficiente de endogamia (FIS = 0.249. Conclusiones. El ganado criollo colombiano posee alto polimorfismo del gen BoLA-DRB3.2* representado en los altos valores de NPA y diversidad génetica.

  9. Variabilidad genética de poblaciones en cautiverio de Crocodylus moreletii (Crocodylia: Crocodylidae mediante el uso de marcadores microsatelitales

    Directory of Open Access Journals (Sweden)

    Ricardo Serna-Lagunes

    2012-03-01

    Full Text Available Crocodylus moreletii representa un emblema para los ecosistemas tropicales de México pero actualmente está amenazada por extinción. Sorprendentemente, hay una falta de información de su constitución genética, que debe ser evaluada para un manejo apropiado ex situ y para toma de decisiones en la liberación de cocodrilos a su hábitat natural. El objetivo del estudio fue caracterizar y comparar la variabilidad genética de cuatro grupos poblacionales de C. moreletii (dos silvestres y dos nacidas ex situ. Mediante PCR se amplificaron siete loci de microsatélites polimórficos, sin embargo se encontró déficit de heterocigotos en las poblaciones (promedio H O=0.02 mermado por la presencia de alelos nulos. El AMOVA indicó que la mayor proporción de variabilidad genética se encuentra dentro de las poblaciones y una limitada diferenciación genética entre poblaciones (promedio F ST =0.03, probablemente debida al alto índice de endogamia (promedio F IS=0.97. Al comparar la variabilidad genética inter e intra especies de cocodrilianos, encontramos que en C. moreletii está muy por debajo de los reportados. Se concluye que la limitada variabilidad genética de las poblaciones nacidas ex situ probablemente se debe al efecto fundador derivado de la estructura social de sus progenitores, y de las poblaciones silvestres, por el efecto cuello de botella, inferido por el limitado tamaño efectivo de población que presentó históricamente en su distribución natural.

  10. Riesgos sobre la salud de los alimentos modificados genéticamente: una revision bibliografica

    Directory of Open Access Journals (Sweden)

    Roig José L. Domingo

    2000-01-01

    Full Text Available A lo largo de 1999, se ha venido intensificando el debate sobre la seguridad de los alimentos modificados genéticamente, una importante y compleja área de investigación científica, la cual demanda unos estándares rigurosos. Diversos grupos, incluyendo asociaciones de consumidores y Organizaciones no Gubernamentales (ONGs han sugerido que todos los alimentos modificados genéticamente deberían ser sometidos a estudios a largo plazo con animales antes de su aprobación para el consumo humano. El principal objetivo de la presente revisión ha sido conocer cual es el estado actual de la cuestión en lo referente a los potenciales efectos adversos sobre la salud de los alimentos modificados genéticamente. Dos bases de datos, Medline y Toxline, así como una serie de direcciones de internet, han sido empleadas para la obtención de bibliografía. Aunque son numerosos los comentarios, noticias generales y cartas al Editor aparecidos en prestigiosas revistas, los artículos referentes a estudios experimentales sobre la seguridad de los alimentos modificados genéticamente son, sorprendentemente, muy escasos. Si se han obtenido resultados procedentes de la evaluación toxicológica de estos alimentos, no han sido publicados en revistas científicas y, por lo tanto, no han podido ser debidamente juzgados o contrastados.

  11. Ganho de seleção no melhoramento genético intrapopulacional do maracujazeiro-amarelo

    Directory of Open Access Journals (Sweden)

    Willian Krause

    2012-01-01

    Full Text Available O objetivo deste trabalho foi estimar o ganho de seleção associado a características agronômicas de importância no melhoramento intrapopulacional do maracujazeiro-amarelo. O experimento foi realizado em campo, no Município de Terra Nova do Norte, MT, com a avaliação de 111 famílias de irmãos completos (FIC e seis cultivares comerciais, utilizadas como testemunhas. Utilizou-se o delineamento de blocos ao acaso, com três repetições e quatro plantas por parcela. Foram avaliadas as seguintes características: produtividade, comprimento, diâmetro e peso médio dos frutos, percentagem e peso de polpa, espessura de casca e teor de sólidos solúveis. Para verificar a existência de variabilidade genética entre os genótipos, estimaram-se os parâmetros genéticos da população com base na média das famílias. Os 30 genótipos com o menor valor da soma de postos, de acordo com o índice de seleção de Mulamba & Mock, foram selecionados para estimar os ganhos genéticos. Observaram-se altos valores médios para as características e parâmetros genéticos avaliados nas 26 FIC e nas quatro testemunhas selecionadas. O uso do índice de seleção proporciona ganhos genéticos positivos em produtividade, percentagem e peso de polpa, comprimento, diâmetro e peso de frutos, e espessura de casca.

  12. Estructura genética de un grupo de capibaras, Hydrochoerus hydrochaeris (Rodentia: Hydrocheridae en los Llanos orientales colombianos

    Directory of Open Access Journals (Sweden)

    Adriana Maldonado-Chaparro

    2011-12-01

    Full Text Available Los capibaras son los roedores más grandes del mundo, sin embargo, no se han realizado estudios genético poblacionales exhaustivos con ellos. En el presente trabajo se analizó la estructura genética de una manada de 31 capibaras (Hydrochoerus hydrochaeris muestreada en Hato Corozal, Departamento de Casanare en los Llanos Orientales de Colombia, mediante cinco marcadores microsatelitales. La diversidad genética se determinó en 0.61 y un número promedio de alelos de 5.2, lo cual se puede considerar medio-bajo para este tipo de marcadores. De los cinco marcadores empleados, tres mostraron proporciones genotípicas en concordancia con lo esperado en equilibrio Hardy-Weinberg, mientras que un marcador mostró un exceso significativo de homocigotos y otro un exceso significativo de heterocigotos. No se encontraron diferencias significativas para esos cinco marcadores entre machos y hembras de la manada muestreada. La aplicación de diferentes procedimientos para detectar posibles cambios demográficos históricos (expansiones poblacionales o cuellos de botella mostró claramente que la población analizada ha pasado por un cuello de botella extremadamente fuerte en épocas recientes. La limitada variabilidad genética encontrada y la fuerte evidencia de que la manada estudiada ha pasado por un cuello de botella reciente es probablemente el resultado de la cacería ilegal.

  13. Survey of HFE Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study

    Directory of Open Access Journals (Sweden)

    Selma Ünal

    2014-09-01

    Full Text Available OBJECTIVE: This study was planned in order to determine the effect of C282Y mutation in development of secondary hemochromatosis in beta-thalassemia patients and to determine the prevalence and allele frequency of this mutation in a healthy control group. METHODS: Eighty-seven children and young adults (46 males and 41 females; mean age: 15.6±6.1 years, range: 3-30 years with beta-thalassemia major (BTM and 13 beta-thalassemia intermedia (BTI patients (6 males and 7 females; mean age: 19.6±3.5 years, range: 13-26 years were included in the study. The control group comprised 100 healthy blood donors. RESULTS: Neither heterozygous nor homozygous HFE gene C282Y mutation was detected in patients with BTM or BTI, or in control group. CONCLUSION: The C282Y mutation, which is supposed to be responsible for the majority of hereditary hemochromatosis, was not found to have a role in the development of hemochromatosis in beta-thalassemia patients and was not detected in a healthy Turkish population. However, research on larger cohorts of individuals is required in order to determine the exact prevalence of the HFE gene mutation in Turkish populations from diverse ethnic origins and whether it would have an impact on iron loading in thalassemic populations.

  14. Correlation between HFE gene polymorphisms and increased risk of coronary artery disease among patients with type 2 diabetes in Iran.

    Science.gov (United States)

    Saremi, Leila; Saremi, Marzieh; Lotfipanah, Shirin; İmani, Saber; Fu, Junjiang; Zhang, Tianyu

    2016-04-19

    Diabetes mellitus is a risk factor for cardiovascular diseases (CVDs), which are among the major causes of deaths in type 2 diabetes (T2D). The purpose of the present study was to determine the association of C282Y and H63D mutations in the HFE gene with increased risk of coronary artery disease (CAD) in T2D patients. Two hundred and ninety individuals were divided into two groups: a case group and a control group. Genomic DNA of peripheral venous blood cells was extracted and the HFE gene mutations were analyzed using the PCR-RFLP technique. Data analysis revealed a significant difference between the allele frequencies of H63D and C282Y mutations between the case group and the controls (P 0.05). Using a logistic regression model, BMI, FBS, HDL, and total cholesterol levels were significantly different with independent predictors of CVD (P < 0.05). Our results revealed a significant correlation between C282Y and H63D mutations and the development of CAD in T2D patients.

  15. Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.

    Science.gov (United States)

    Enein, Azza Aboul; El Dessouky, Nermine A; Mohamed, Khalda S; Botros, Shahira K A; Abd El Gawad, Mona F; Hamdy, Mona; Dyaa, Nehal

    2016-06-15

    This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing. Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001). Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients.

  16. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia.

    Science.gov (United States)

    Rodriguez, Libia M; Giraldo, Mabel C; Velasquez, Laura I; Alvarez, Cristiam M; Garcia, Luis F; Jimenez-Del-Rio, Marlene; Velez-Pardo, Carlos

    2015-03-01

    A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D) mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis ("HH") and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD) with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

  17. HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.

    Science.gov (United States)

    El-Rashedi, Farida H; El-Hawy, Mahmoud A; El-Hefnawy, Sally M; Mohammed, Mona M

    2017-08-01

    Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile. This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals. Thirty-five healthy children of matched age and sex were chosen as controls. After completing treatment course, ALL survivors were screened for the prevalence of these two mutations by polymerase chain reaction-restriction fragment length polymorphism. Serum ferritin levels were measured by an enzyme-linked immunosorbent assay technique (ELISA). C282Y mutation cannot be detected in any of the 35 survivors or the 35 controls. The H63D heterozygous state (CG) was detected in 28.6% of the survivors group and in 20% of controls, while the H63D homozygous (GG) state was detected in 17.1% of survivors. No compound heterozygosity (C282Y/H63D) was detected at both groups with high G allele frequency (31.4%) in survivors more than controls (10%). There were significant higher levels of iron parameters in homozygote survivors than heterozygotes and the controls. H63D mutation aggravates the iron overload status in pediatric ALL survivors.

  18. Ancestral association between HLA and HFE H63D and C282Y gene mutations from northwest Colombia

    Directory of Open Access Journals (Sweden)

    Libia M Rodriguez

    2015-03-01

    Full Text Available A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H63D mutations in 214 subjects from Antioquia, Colombia. These were 18 individuals with presumed hereditary hemochromatosis (“HH” and 196 controls. The HLA-B*07 allele was in linkage disequilibrium (LD with C282Y, while HLA-A*23, A*29, HLA-B*44, and B*49 were in LD with H63D. Altogether, our results show that, although the H63D mutation is more common in the Antioquia population, it is not associated with any particular HLA haplotype, whereas the C282Y mutation is associated with HLA-A*03-B*07, this supporting a northern Spaniard ancestry.

  19. Caracterización clínico genética del síndrome Prader Willi

    OpenAIRE

    Travieso Tellez, Anitery; Menéndez García, Reinaldo; Licourt Otero, Deysi

    2014-01-01

    Introducción: el síndrome Prader Willi es un desorden genético causado por la pérdida de genes contenidos en la región 15q11-q13 del cromosoma paterno. Objetivo: describir las características clínicas y genéticas de los pacientes con síndrome Prader Willi. Material y método: se realizó un estudio descriptivo, de corte transversal, con el universo de 15 pacientes con sospecha de síndrome Prader Willi remitidos a consulta provincial de Genética Clínica durante el año 2013. Se consideraron como ...

  20. Inestabilidad cromosómica y desequilibrios genómicos en cáncer de vejiga

    OpenAIRE

    Del Rey Azpiri, Javier

    2010-01-01

    Los carcinomas uroteliales de vejiga, al igual que la mayoría de tumores sólidos, se caracterizan por la acumulación de múltiples desequilibrios genéticos. Con el fin de contribuir al conocimiento de las bases genéticas de la tumorogénesis urotelial, se estudió una serie de 180 tumores de vejiga mediante CGH convencional, observando que estos tumores mantienen un perfil característico de desequilibrios genómicos con ganancias en 1q, 8q, 11q, 16p, 17q, 18p, 19, 20q, Xq y pérdidas en 4q, 8p, 9p...

  1. Algoritmos para genómica comparativa

    OpenAIRE

    Figueiras, Vasco da Rocha

    2010-01-01

    Com o surgimento da Genómica e da Proteómica, a Bioinformática conduziu a alguns dos avanços científicos mais relevantes do século XX. A Unidade de Investigação e Desenvolvimento do Biocant, parque biotecnológico de Cantanhede, assume actualmente o papel de motor no desenvolvimento da Genómica. O Biocant possui um importante sequenciador de larga escala que permite armazenar um elevado número de genomas, nomeadamente, genomas de bactérias. O estudo proposto reflecte a necessidade do Bio...

  2. Coeficiente de repetibilidade e parâmetros genéticos em capim-elefante

    Directory of Open Access Journals (Sweden)

    Marcelo Cavalcante

    2012-04-01

    Full Text Available O objetivo deste trabalho foi determinar os coeficientes de repetibilidade de caracteres morfofisiológicos em genótipos de capim-elefante (Pennisetum spp., a partir de dados obtidos durante seis ciclos de avaliação. Foram estimados: número mínimo de medições e parâmetros genéticos. Utilizou-se o delineamento experimental de blocos ao acaso, em arranjo de parcelas subdivididas, com quatro níveis de N (controle, 30, 60 e 90 kg ha‑1 por corte e 16 genótipos de Pennisetum (11 híbridos interespecíficos e cinco cultivares. Os ciclos consistiram de avaliações em 2010 (21/4, 19/7 e 28/9 e 2011 (6/1, 7/4 e 3/8. Os coeficientes de repetibilidade foram de média‑alta magnitude para todas as variáveis, o que indica que houve regularidade entre as medidas repetidas. Para as variáveis massa de forragem, altura da planta, comprimento e largura da folha, diâmetro do colmo, clorose e índice de área foliar, três ciclos de avaliação são suficientes para obter R² de 90%, pela análise de componentes principais. Para o comprimento do entrenó, o mínimo de sete avaliações é necessário para predizer o valor real dos genótipos. Os parâmetros genéticos das variáveis massa de forragem, comprimento e largura da folha, diâmetro do colmo e clorose foliar são de alta magnitude, o que favorece a seleção de genótipos superiores de Pennisetum.

  3. Transhumanistas y Bioconservadores en torno al dopaje genético

    Directory of Open Access Journals (Sweden)

    Raúl Francisco Sebastián Solanes

    2013-04-01

    Full Text Available En el presente texto proponemos una reflexión sobre uso de tecnologías genéticas que  aumentan el rendimiento deportivo como futuro campo de investigación de una Neuroética social. Este problema, que se ha dado en llamar “dopaje genético”, congrega a su alrededor un debate entre los partidarios del Bioconservadurismo y del Transhumanismo. Expondremos la concepción de dos importantes representantes del Transhumanismo (J. Savulescu y C. Tamburrini y de dos conocidos partidarios del Bioconservadurismo (M. Sandel y R. L. Simon, a fin de subrayar la importancia de este debate y las futuras implicaciones en la mejora del rendimiento físico, cognitivo y educacional a las que se deberá hacer frente desde el nivel socio-cultural de la Neuroética.

  4. Festival du rire de Genève

    CERN Document Server

    Staff Association

    2015-01-01

    Connaissez-vous le Festival du rire de Genève ? La deuxième édition aura lieu du 25 au 28 mars 2015 au Casino-Théâtre à Carouge. Côté programmation, Marc Donnet-Monay ouvre les festivités avant trois autres soirées de folie et d’humour que nous vous laissons le soin de découvrir dans le programme : http://www.rire-geneve.ch/#programme. Réduction de 30% sur l’achat de places pour les membres du personnel du CERN. Pour cela, il suffit de se rendre sur la billetterie en ligne de notre site : www.rire-geneve.ch et d’utiliser le code promotionnel. Contacter le secrétariat de l’Association du personnel (Staff.Association@cern.ch) pour connaitre ce code promotionnel.

  5. Caracterização e uso da variabilidade genética de banco ativo de germoplasma de Coffea canephora Pierre ex Froehner

    OpenAIRE

    Rocha, Rodrigo Barros; Embrapa Rondônia; Santos, Diogo Vieira; ULBRA; Ramalho, André Rostand; Embrapa Rondônia; Teixeira, Alexsandro Lara; Embrapa Rondônia

    2014-01-01

    Estratégias eficientes para manipular a variabilidade genética são determinantes para o sucesso dos programas de melhoramento de Coffea canephora. Combinações entre genitores divergentes expressam maior efeito heterótico, devendo a seleção de matrizes considerar, simultaneamente, a divergência genética e o desempenho agronômico superior.Objetivou-se, neste trabalho, quantificar a diversidade genética de acessos de C. canephora do Banco Ativo de Germoplasma da Embrapa Rondônia, visando à ident...

  6. The relationship between selected VDR, HFE and ALAD gene polymorphisms and several basic toxicological parameters among persons occupationally exposed to lead.

    Science.gov (United States)

    Szymańska-Chabowska, Anna; Łaczmański, Łukasz; Jędrychowska, Iwona; Chabowski, Mariusz; Gać, Paweł; Janus, Agnieszka; Gosławska, Katarzyna; Smyk, Beata; Solska, Urszula; Mazur, Grzegorz; Poręba, Rafał

    2015-08-06

    The aim of this study was to find a relationship between polymorphisms of ALAD rs1805313, rs222808, rs1139488, VDR FokI and HFE C282Y and H63D and basic toxicological parameters (lead and ZnPP blood concentration) in people occupationally exposed to lead. We collected data of 101 workers (age 25-63 years) directly exposed to lead. The toxicological lab tests included blood lead, cadmium and ZnPP concentration measurement and arsenic urine concentration measurement. Workers were genotyped for ALAD (rs1805313, rs222808, rs1139488), HFE (C282Y, H63D) and VDR (FokI). Individuals with the lead exposure and coexisting F allel in the locus Fok-I of VDR gene are suspected of higher zinc protoporphyrins concentrations. Workers exposed to the lead with the Y allel in the locus C282Y of the HFE gene are predisposed to lower ZnPP levels and individuals with coexisting H allel in the locus H63D HFE gene are predisposed to lower Pb-B levels. The T allel in the locus rs1805313 of the ALAD gene determines lower Pb-B and ZnPP levels in lead-exposed individuals. The heterozigosity of the locus rs2228083 of the ALAD gene has a strong predilection to higher Pb-B levels. The carriage of the C allel in the locus rs1139488 of the ALAD gene might determine higher Pb-B levels and the heterozigosity of the locus rs1139488 of the ALAD gene might result in higher ZnPP levels. The study revealed relationship between VDR, HFE and ALAD genes polymorphism and basic toxicological parameters in occupationally exposed workers. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  7. The relationship between selected VDR, HFE and ALAD gene polymorphisms and several basic toxicological parameters among persons occupationally exposed to lead

    International Nuclear Information System (INIS)

    Szymańska-Chabowska, Anna; Łaczmański, Łukasz; Jędrychowska, Iwona; Chabowski, Mariusz; Gać, Paweł; Janus, Agnieszka; Gosławska, Katarzyna; Smyk, Beata; Solska, Urszula; Mazur, Grzegorz; Poręba, Rafał

    2015-01-01

    The aim of this study was to find a relationship between polymorphisms of ALAD rs1805313, rs222808, rs1139488, VDR FokI and HFE C282Y and H63D and basic toxicological parameters (lead and ZnPP blood concentration) in people occupationally exposed to lead. We collected data of 101 workers (age 25–63 years) directly exposed to lead. The toxicological lab tests included blood lead, cadmium and ZnPP concentration measurement and arsenic urine concentration measurement. Workers were genotyped for ALAD (rs1805313, rs222808, rs1139488), HFE (C282Y, H63D) and VDR (FokI). Individuals with the lead exposure and coexisting F allel in the locus Fok-I of VDR gene are suspected of higher zinc protoporphyrins concentrations. Workers exposed to the lead with the Y allel in the locus C282Y of the HFE gene are predisposed to lower ZnPP levels and individuals with coexisting H allel in the locus H63D HFE gene are predisposed to lower Pb-B levels. The T allel in the locus rs1805313 of the ALAD gene determines lower Pb-B and ZnPP levels in lead–exposed individuals. The heterozigosity of the locus rs2228083 of the ALAD gene has a strong predilection to higher Pb-B levels. The carriage of the C allel in the locus rs1139488 of the ALAD gene might determine higher Pb-B levels and the heterozigosity of the locus rs1139488 of the ALAD gene might result in higher ZnPP levels. Conclusion. The study revealed relationship between VDR, HFE and ALAD genes polymorphism and basic toxicological parameters in occupationally exposed workers

  8. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.

    Science.gov (United States)

    Warne, Charles D; Zaloumis, Sophie G; Bertalli, Nadine A; Delatycki, Martin B; Nicoll, Amanda J; McLaren, Christine E; Hopper, John L; Giles, Graham G; Anderson, Greg J; Olynyk, John K; Powell, Lawrie W; Allen, Katrina J; Gurrin, Lyle C

    2017-04-01

    Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p.C282Y nor p.H63D mutations (HFE wild types) as comparison groups. A sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y homozygotes plus a random sample stratified by HFE-genotype (p.C282Y and p.H63D). The relationship between the natural logarithm of SF and time since menopause was examined using linear mixed models incorporating spline smoothing. For p.C282Y homozygotes, SF increased by a factor of 3.6 (95% CI (1.8, 7.0), P HFE genotype groups increase more gradually and did not show a distinction between premenopausal and postmenopausal SF levels. Only p.C282Y homozygotes had predicted SF exceeding 200 μg/L postmenopause, but the projected SF did not increase the risk of iron overload-related disease. These data provide the first documented evidence that physiological blood loss is a major factor in determining the marked gender difference in expression of p.C282Y homozygosity. © 2016 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.

  9. Big Bang à Genève - French version only

    CERN Multimedia

    2005-01-01

    C'est la dernière conférence du cycle organisé par la section de physique de l'Université de Genève à l'occasion de l'Année internationale de la physique. Pour le bouquet final, la section de physique a choisi le grand boum du Big Bang. Intitulée « Big Bang à Genève », la conférence donnée par Laurent Chevalier de l'institut français CEA Saclay évoquera les expériences qui se préparent au CERN avec le LHC. Leur but est de reproduire et d'analyser les conditions qui prévalaient à l'origine de l'Univers, juste après le Big Bang. L'exposé décrira de façon simple les techniques utilisées pour cette exploration, qui démarrera en 2007. Laurent Chevalier se demandera avec le public quels phénomènes nouveaux les physiciens espèrent découvrir dans ce monde inexploré. Comme les précédentes, la conférence débutera par une démonstration de détection de rayons cosmiques dans l'auditoire et l'utilisation de ces signaux pour créer une « musique cosmique », en collaboration avec le Pr...

  10. Diversidad genética de las variedades de arroz FLAR liberadas entre 2003-2014.

    Directory of Open Access Journals (Sweden)

    Luis Eduardo Berrio-Orozco

    2016-06-01

    Full Text Available El objetivo de este trabajo fue determinar la base genética, el coeficiente de parentesco y la diversidad genética de las variedades de arroz liberadas entre el 2003 - 2014 en trece países miembros del Fondo Latinoamericano para Arroz de Riego (FLAR. Para ello, se analizaron las genealogías de 51 variedades, en el Centro Internacional de Agricultura Tropical (CIAT, Palmira, Colombia, durante los años 2014 y 2015. La variabilidad genética de las variedades estuvo representada por 120 ancestrales (2,4 ancestral/variedad; 33 de estos contribuyeron con el 83,9% de sus genes, de los cuales tres (ancestrales que originaron IR8 aportaron el 35,6% de sus genes. También se mostró que el coeficiente de parentesco (rxy entre las diferentes variedades comerciales varió de 0,03 (muy poco relacionadas, hasta 0,99 (altamente relacionadas. El promedio de todas las 51 variedades fue de (rxy 0,19. A nivel de variedades por país, se encontró que el promedio fue variable, el mínimo lo obtuvo Ecuador con 0,13, y el máximo fue de 0,31 para las variedades de Venezuela. El análisis de agrupamiento separó a los genotipos en catorce grupos distintos, donde existen materiales bastante relacionados y otros muy poco relacionados. Estos resultados muestran que se ha obtenido una ampliación de la base genética. 

  11. Políticas de biocontrole genético e a contratação do trabalho no brasil

    Directory of Open Access Journals (Sweden)

    Ana Paula Myszczuk

    2017-01-01

    Full Text Available O artigo discute a (impossibilidade jurídica de uso do biocontrole genético quando da seleção de trabalhadores no Brasil. Parte-se da problemática de que o estabelecimento de critérios sobre quem está apto ou não a se manter no trabalho exige limites legais. Para responder à problemática introduz- se uma discussão sobre sociedade de controle e uso do controle genético; são estabelecidos marcos biojurídicos e analisa-se a (impossibilidade do uso de exames genéticos no sistema jurídico trabalhista brasileiro.

  12. Diagnóstico prenatal de mosaicismo 45,X/46,XX con presencia del gen SRY. Presentación de un caso

    OpenAIRE

    Pedro Alí Díaz-Véliz Jiménez; María Antonia Ocaña Gil; Leydi María Sosa Águila; Belkis Vidal Hernández

    2013-01-01

    El cariotipo más frecuente del Síndrome de Turner es 45,X, aunque también puede presentarse como mosaico 45,X/46,XX. En el Centro Provincial de Genética Médica de Cienfuegos se le realizó la amniocentesis a una gestante de 42 años de edad, detectándose un mosaico de Síndrome de Turner (45,X/46,XX). Por ultrasonido se diagnosticó un varón, por lo que se envió una muestra de líquido amniótico al Centro Nacional de Genética Médica para corroborarlo y se indicó realizar estudio del gen SRY, cuyo ...

  13. El nuevo paradigma genético y la naturaleza humana: Una perspectiva desde la bioética reflexiva y secular

    OpenAIRE

    Orlando, Mejía

    2005-01-01

    La genética se ha convertido en el área científica con mayores implicaciones bioéticas y sociales, debido al poder de transformación que tiene sobre lo que se ha considerado, hasta ahora, como la naturaleza humana. En este trabajo se propone analizar la relación entre el nuevo paradigma genético, la noción histórica de la esencia humana y los contemporáneos modelos antropocéntrico y evolutivo de la naturaleza humana. Utilizando elementos conceptuales que correspondan a una bioética reflexiva,...

  14. Preserving Accuracy in GenBank

    DEFF Research Database (Denmark)

    Bidartondo, M.I.; Bruns, T. D.; Blackwell, M.

    2008-01-01

    GenBank, the public repository for nucleotide and protein sequences, is a critical resource for molecular biology, evolutionary biology, and ecology. While some attention has been drawn to sequence errors (1), common annotation errors also reduce the value of this database. In fact, for organisms...

  15. Teleport Generation 3 (Teleport Gen 3)

    Science.gov (United States)

    2016-03-01

    for high- throughput multi-band and multimedia connectivity from deployed locations to DISN and DoD Information Network (DoDIN) information sources and...2016 Major Automated Information System Annual Report Teleport Generation 3 (Teleport Gen 3) Defense Acquisition Management Information Retrieval...Program Information 4 Responsible Office 4 References 4 Program Description 5 Business Case 6 Program Status 8 Schedule 9

  16. Frecuencia de mutaciones en el gen de la usherina (USH2A en 26 individuos colombianos con síndrome de Usher, tipo II

    Directory of Open Access Journals (Sweden)

    Greizy López

    2011-04-01

    Conclusiones. Se logró establecer que, al menos, 38 % de la población analizada con síndrome de Usher, tipo II, presenta alguna mutación en la isoforma corta del gen de la usherina. El diagnóstico molecular se logró establecer en el 23 %.

  17. Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population.

    Science.gov (United States)

    Juzėnas, Simonas; Kupčinskas, Juozas; Valantienė, Irena; Šumskienė, Jolanta; Petrenkienė, Vitalija; Kondrackienė, Jūrate; Kučinskas, Laimutis; Kiudelis, Gediminas; Skiecevičienė, Jurgita; Kupčinskas, Limas

    2016-01-01

    Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population. The patient cohort consisted of 209 individuals. Diagnosis of cirrhosis was confirmed by clinical, laboratory parameters, liver biopsy, and radiological imaging. Control samples were obtained from 1005 randomly selected unrelated healthy individuals. HFE gene mutations were determined using the PCR-RFLP method. The most common causes of cirrhosis were hepatitis C (33.9%), hepatitis B (13.6%), and alcohol (25.8%). C282Y allele was associated with the presence of cirrhosis (OR=2.07; P=0.005); this was also observed under recessive model for C282Y (OR=2.06, P=0.008). The prevalence of C282Y allele was higher in cirrhotic men than in controls (7.0% vs. 2.8%, P=0.002). The carriage of H63D risk allele (OR=1.54; P=0.02), heterozygous C282Y/wt and homozygous H63D/H63D genotypes were associated with liver cirrhosis in males (OR=2.48, P=0.008, and OR=4.13, P=0.005, respectively). Heterozygous C282Y mutation of the HFE gene was associated with liver cirrhosis in the Lithuanian population. In gender-related analysis, heterozygous C282Y and homozygous H63D mutations were linked to liver cirrhosis in men, not in women. Copyright © 2016 The Lithuanian University of Health Sciences. Production and hosting by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  18. Next Gen One Portal Usability Evaluation

    Science.gov (United States)

    Cross, E. V., III; Perera, J. S.; Hanson, A. M.; English, K.; Vu, L.; Amonette, W.

    2018-01-01

    Each exercise device on the International Space Station (ISS) has a unique, customized software system interface with unique layouts / hierarchy, and operational principles that require significant crew training. Furthermore, the software programs are not adaptable and provide no real-time feedback or motivation to enhance the exercise experience and/or prevent injuries. Additionally, the graphical user interfaces (GUI) of these systems present information through multiple layers resulting in difficulty navigating to the desired screens and functions. These limitations of current exercise device GUI's lead to increased crew time spent on initiating, loading, performing exercises, logging data and exiting the system. To address these limitations a Next Generation One Portal (NextGen One Portal) Crew Countermeasure System (CMS) was developed, which utilizes the latest industry guidelines in GUI designs to provide an intuitive ease of use approach (i.e., 80% of the functionality gained within 5-10 minutes of initial use without/limited formal training required). This is accomplished by providing a consistent interface using common software to reduce crew training, increase efficiency & user satisfaction while also reducing development & maintenance costs. Results from the usability evaluations showed the NextGen One Portal UI having greater efficiency, learnability, memorability, usability and overall user experience than the current Advanced Resistive Exercise Device (ARED) UI used by astronauts on ISS. Specifically, the design of the One-Portal UI as an app interface similar to those found on the Apple and Google's App Store, assisted many of the participants in grasping the concepts of the interface with minimum training. Although the NextGen One-Portal UI was shown to be an overall better interface, observations by the test facilitators noted specific exercise tasks appeared to have a significant impact on the NextGen One-Portal UI efficiency. Future updates to

  19. La genèse de la première organisation prochinoise au Pérou (1963-1964. Idéologie et acteurs de la IVème conférence nationale du Parti Communiste péruvien (janvier 1964

    Directory of Open Access Journals (Sweden)

    1998-01-01

    Full Text Available La création de la première organisation prochinoise au Pérou à l’issue de la IVème conférence nationale du Parti Communiste Péruvien marque-t-elle la victoire de la majorité des militants attachés à la pureté du marxisme-léninisme sur le “révisionnisme” des partisans de Moscou comme l’affirment les historiographes maoïstes ? L’analyse de l’articulation de la polémique idéologique sino-soviétique sur la lutte interne du P.C.P. démontre que l’idéologie est davantage un moyen pour justifier l’expulsion d’un ennemi commun - la “vieille garde” qui accapare la direction du Parti - qu’un trait d’union entre partisans de la IVème conférence nationale. GENESIS DE LA PRIMERA ORGANIZACIÓN PROCHINA EN EL PERÚ (1963-1964. IDEOLOGÍA Y ACTORES DE LA IVA CONFERENCIA NACIONAL DEL PARTIDO COMUNISTA PERUANO (ENERO DE 1964. La primera organización pro-china que nace en el Perú con la IVa conferencia nacional del Partido Comunista Peruano sería, como lo afirman los historiógrafos maoístas, el desenlace victorioso de la lucha que la mayoría de los militantes peruanos han desarrollado contra el “revisionismo” de los partidarios de Moscú en su afán de preservar la pureza del marxismo-leninismo. La manera cómo la polémica china-soviética se incorpora a la lucha interna que divide al P.C.P. nos demuestra que la ideología sirve más para justificar la expulsión de la “vieja guardia” de la dirección del Partido que para unificar a los partidarios de la IVa conferencia nacional mismos. THE GENESIS OF THE FIRST PRO-CHINESE ORGANIZATION IN PERU (1963-1964. IDEOLOGY AND ACTORS OF THE IVTH NATIONAL CONFERENCE OF THE PERUVIAN COMMUNIST PARTY (JANUARY 1964. Does the birth of the first pro-Chinese organization at the Peruvian Communist Party’s IVth conference mark, as Maoists historiographers assert the victory of the majority of the Peruvian communists over the “revisionists” pledged to Moscow in order to preserve the

  20. Evaluation des bassins par modélisation intégrée en deux dimensions des transferts techniques, de l'écoulement des fluides, de la genèse et de la migration des hydrocarbures Basin Evaluation by Integrated Two-Dimensional Modeling of Heat Transfer, Fluid Flow, Hydrocarbon Generation, and Migration

    Directory of Open Access Journals (Sweden)

    Chenet P. Y.

    2006-11-01

    Full Text Available Le modèle de bassin exposé dans cet article décrit les phénomènes physiques et chimiques qui contrôlent la formation d'accumulations commerciales, dans le cadre évolutif d'un bassin sédimentaire affecté par la subsidence : transfert de chaleur, compaction et écoulement de l'eau, génèse des hydrocarbures, migration diphasique de l'eau et des hydrocarbures. Le modèle tient compte des variations de conductivité et des phénomènes thermiques transitoires pour reconstituer les paléo-températures. Des validations quantitatives de la reconstitution des paléo-températures et du modèle cinétique de formation des hydrocarbures peuvent être obtenues par comparaison avec les températures actuelles et les données géochimiques. Les écoulements et les surpressions induits par la compaction sont décrits en couplant une loi de compaction avec la loi de Darcy, classique pour les écoulements de l'eau, en ajoutant un critère de fracturation hydraulique naturelle. Ceci permet de modéliser les pressions anormales dans des séquences deltaïques récentes (delta de la Mahakam, comme dans des bassins liés à des rifts anciens (mer du Nord. Une adaptation de la loi de Darcy aux écoulements diphasiques permet de reproduire la migration primaire et la migration secondaire. En particulier, le modèle permet d'étudier le rôle des pressions anormales et l'influence des failles sur la migration et le piégeage. Nos résultats confirment que les modèles de bassins peuvent contribuer à synthétiser les données géologiques, géophysiques et géochimiques dans un schéma cohérent. En précisant l'évaluation pétrolière, ces modèles constituent une des principales voies pour améliorer l'efficacité de l'exploration. The basin model discussed in this paper describes the physical and chemical phenomena that control the formation of commercial accumulations of hydrocarbons in the moving framework of a subsiding sedimentary basin : heat

  1. Doping Genético e Eugenia: Diálogos além do esporte

    Directory of Open Access Journals (Sweden)

    Tiago Vieira Bomtempo

    2016-01-01

    Full Text Available La ingeniería genética trajo posibilidades antes inimaginables, en la que no hace mucho tiempo era visto sólo en las películas. De la terapia génica, dirigida hacia una corrección o cura de una enfermedad, pasa a la posibilidad del mejoramiento genético, actualmente vislumbrado en el mundo del deporte con el doping genético. ¿Pero, el doping genético no estaría violando el derecho al patrimonio genético no modificado? Aunque la intervención genética no se transmita a los descendentes, habría un mejoramiento genético, que afectaría el genoma del atleta y lo diferenciaría de los demás atletas y otros individuos, hiriendo el principio de igualdad en detrimento de la autonomía privada, pudiéndose estar hablando inicialmente de una relación de dominación, aunque sea en razón al rendimiento físico en el deporte. En este sentido, estas innovaciones que atraviesan el campo de la ingeniería genética, infunden una preocupación acerca de la manipulación genética en las generaciones futuras, punto de discusión no sólo biomédica, sino también bioético y biojurídico. Así, surge una preocupación si estos nuevos avances pueden afectar a la dignidad humana delante de una posible eugenesia, debido a la proyección de personas y la consecuente discriminación por determinada identidad genética. Junto a esto, el objetivo de este artículo es investigar si el dopaje genético ofendería el derecho al patrimonio genético no modificado y los derechos de las generaciones futuras, dando lugar a una nueva forma de eugenesia, al no permitir el ejercicio igualitario de las libertades fundamentales. Por lo tanto, se hace necesaria una investigación basada en los autores de la bioética y el bioderecho, así como también los textos legales nacionales e internacionales que involucran el tema. Es indispensable la discusión de estas cuestiones, sobre todo con la proximidad de los Juegos Olímpicos de Verano en Brasil en este año 2016

  2. A Survey on the HFE-related Technologies for the Improvements of Human Performance of Safety Personnel in Rail System

    International Nuclear Information System (INIS)

    Koo, I. S.; Park, G. O.; Suh, S. M.; Sim, Y. R.; Go, J. H.; Jeong, J. H.; Son, C. H.

    2005-08-01

    Many studies have shown that the most cases of rail accidents have occurred because of performing his/her tasks in inappropriate way. It is generally recognised that the rail system without human element could never be happened quite long time. So human element in rail system is going to be the major factor to the next tragic accident. This state-of-the-art report describes three major HFE-related technologies, training simulator, the integrated test facility for human factors engineering, and human performance evaluation system, that are used in the other industries including nuclear power industry for the purpose of increasing rail safety through out the improvement of human task performance. Base on this report, the way of developing those technologies that should be applied to the korean rail system is presented

  3. A Survey on the HFE-related Technologies for the Improvements of Human Performance of Safety Personnel in Rail System

    Energy Technology Data Exchange (ETDEWEB)

    Koo, I. S.; Park, G. O.; Suh, S. M.; Sim, Y. R.; Go, J. H.; Jeong, J. H.; Son, C. H

    2005-08-15

    Many studies have shown that the most cases of rail accidents have occurred because of performing his/her tasks in inappropriate way. It is generally recognised that the rail system without human element could never be happened quite long time. So human element in rail system is going to be the major factor to the next tragic accident. This state-of-the-art report describes three major HFE-related technologies, training simulator, the integrated test facility for human factors engineering, and human performance evaluation system, that are used in the other industries including nuclear power industry for the purpose of increasing rail safety through out the improvement of human task performance. Base on this report, the way of developing those technologies that should be applied to the korean rail system is presented.

  4. Aplicación de la biotecnología en los recursos genéticos forestales

    Directory of Open Access Journals (Sweden)

    R. Martínez

    2003-01-01

    Full Text Available A medida que aumenta la población y sus demandas de productos forestales, las tierras disponibles para la producción disminuyen, por lo que se necesitan esfuerzos coordinados para conseguir la sostenibilidad de la producción forestal. Aunque los sistemas tradicionales de silvicultura y mejoramiento genético continúan siendo importantes en las actividades forestales actuales, los programas convencionales de mejoramiento genético se ven limitados por el largo ciclo de desarrollo de los árboles forestales y la dificultad para distinguir siempre entre la expresión genotípica y los efectos ambientales. La biotecnología ofrece nuevas técnicas que complementan a las metodologías tradicionales del mejoramiento genético forestal. Los avances importantes de la técnica de cultivo de tejidos vegetales y la biología molecular que han tenido lugar en las dos últimas décadas se encuentran en la base del desarrollo de campos como la crioconservación y la regeneración masiva de plantas (expresión de la totipotencia celular, los marcadores de ADN, la genómica de árboles y la transformación genética. En el ámbito de los recursos genéticos, los marcadores de ADN permiten caracterizar la naturaleza, amplitud y distribución de la variabilidad genética de especies vegetales, y por tanto, facilitan la toma de decisiones sobre qué y cómo preservar. La crioconservación y la regeneración de plantas in vitro se están utilizando para conservar y micropropagar material vegetal específico, a fin de llevar a cabo la conservación ex situ y permitir el desarrollo de la silvicultura clonal. En este trabajo se realiza una revisión de las aplicaciones de estos campos a las especies forestales. En este contexto se aporta información sobre la actividad de la biotecnología forestal en las diferentes áreas de investigación.

  5. Capacidad transactivadora del gen pttg1 y su implicación en tumorigénesis

    OpenAIRE

    Romero Franco, Ana

    2016-01-01

    Falta palabras clave Objetivos: Los objetivos planteados en esta tesis doctoral son los que se enumeran a continuación: 1) Estudiar la capacidad moduladora que ejerce el gen pttg1 sobre la expresión de genes relacionados con el microambiente del tumor, en células inmortalizadas de ratón NIH3T3. 2) Estudiar la capacidad transactivadora del gen pttg1 en células tumorales humanas y establecer nexos con su posible implicación biológica en el desarrollo del tumor. 3) Estudiar el efecto en el de...

  6. Estudio de la expresión genómica en pacientes con inmunodeficiencia común variable

    OpenAIRE

    José Franco; Pablo Patiño; Julio Orrego

    2001-01-01

    Existen múltiples entidades que poseen un patrón de herencia desconocido o poligénico, lo cual ha hecho que el análisis genético tradicional sea más complicado y no se logre conocer el funcionamiento celular de forma completa y coherente (1). La genómica funcional es la respuesta a este planteamiento y ha surgido como una disciplina para el entendimiento de las funciones de los genes y sus proteínas asociadas (2). La tecnología más sobresaliente desarrollada hasta la fecha es la de m...

  7. Selección de embriones humanos. Diagnóstico genético preimplantación

    OpenAIRE

    Natalia López Moratalla; Marta Lago Fernández Purón; Esteban Santiago

    2011-01-01

    La posibilidad de detectar defectos cromosómicos o genéticos en embriones in vitro, asociada a las técnicas de Reproducción Humana Asistida antes de su posible transferencia a útero para completar su desarrollo, se presentó como una alternativa al aborto eugenésico. Y una opción para mujeres de edad avanzada para procrear, de evitar embarazos de embriones con defectos cromosómicos. El diagnóstico genético previo a la implantación (DGP) y el cribado de los embriones in vitro (por las siglas en...

  8. Saber o no saber… Derecho e información genética

    Directory of Open Access Journals (Sweden)

    José Ignacio Solar Cayón

    2013-12-01

    Full Text Available El extraordinario desarrollo de las técnicas genéticas, con su formidable capacidad de afectación a la autonomía personal y de invasión de los derechos individuales, está teniendo un impacto profundo en el pensamiento jurídico, obligándonos a revisar algunos de los presupuestos en que se funda nuestra concepción de los derechos fundamentales. Así, el reconocimiento del derecho del individuo a no conocer sus datos genéticos parece desafiar nociones esenciales como las de autonomía y racionalidad del sujeto de derechos, vinculadas en el proyecto ilustrado de emancipación del individuo a la idea de pleno acceso al conocimiento. Sin embargo, la propia idea de “ignorancia” no resulta ajena al discurso de fundamentación de los derechos fundamentales, como prueba el papel esencial que el “velo de la ignorancia” desempeña en la revisión de la tradición liberal efectuada por John Rawls. A partir de la teoría de éste y de John Stuart Mill se indaga en los fundamentos filosóficos del derecho a no saber los datos genéticos y en sus límites, ante la existencia de posibles derechos de terceros a acceder a esa información. Asimismo, se pone de manifiesto el papel que en este nuevo contexto juega el Derecho como instancia administradora del conocimiento y de la ignorancia, ante la amenaza de un determinismo genético que parece poner en cuestión en última instancia la idea misma de libertad individual.

  9. Gender and plasma iron biomarkers, but not HFE gene mutations, increase the risk of colorectal cancer and polyps.

    Science.gov (United States)

    Castiella, Agustin; Múgica, Fernando; Zapata, Eva; Zubiaurre, Leire; Iribarren, Arantxa; de Juan, M Dolores; Alzate, Luis; Gil, Ines; Urdapilleta, Gregorio; Otazua, Pedro; Emparanza, José Ignacio

    2015-09-01

    A cohort study of patients included in the Basque Country colorectal cancer (CRC) screening programme was carried out to assess the risk of adenomatous polyps and CRC (P-CRC) associated with HFE gene mutations, with gender and with iron biomarkers (serum ferritin (SF), iron (Fe) and transferrin saturation index (TSI)). Among 432 included patients (mean age 59.8 years), 263 were men (60.9 %) and 169 women (39.1 %). P-CRC were identified in 221 patients (51.2 %) and no polyps (NP) in 211 patients (48.8 %). HFE mutations were identified in 43.8 % of the patients. C282Y/wt genotypic frequency was 6.8 % in the P-CRC group and 1.4 % in the NP group (p < 0.05). The allelic frequency was 3.8 versus 1.2 % (p < 0.05). For laboratory, all three iron biomarkers showed a statistically significant difference: mean Fe, 91.29 ± 34 for P-CRC and 80.81 ± 30.59 for NP group. Mean TSI for P-CRC was 24.95 ± 8.90 and 22.74 ± 8.79 for NP group. Mean SF 308.09 ± 536.32 for P-CRC and 177.55 ± 159.95 for NP group. In a multivariate logistic regression analysis, only male gender (odds ratio (OR) = 2.04, 1.29-3.22), SF (OR = 1.001, 1.0004-1.003) and Fe (OR = 1.01, 1.004-1.02) were related with the presence of CRC and adenoma. Men gender and raised serum iron biomarkers increase the risk of P-CRC.

  10. Gen IV Materials Handbook Implementation Plan

    International Nuclear Information System (INIS)

    Rittenhouse, P.; Ren, W.

    2005-01-01

    A Gen IV Materials Handbook is being developed to provide an authoritative single source of highly qualified structural materials information and materials properties data for use in design and analyses of all Generation IV Reactor Systems. The Handbook will be responsive to the needs expressed by all of the principal government, national laboratory, and private company stakeholders of Gen IV Reactor Systems. The Gen IV Materials Handbook Implementation Plan provided here addresses the purpose, rationale, attributes, and benefits of the Handbook and will detail its content, format, quality assurance, applicability, and access. Structural materials, both metallic and ceramic, for all Gen IV reactor types currently supported by the Department of Energy (DOE) will be included in the Gen IV Materials Handbook. However, initial emphasis will be on materials for the Very High Temperature Reactor (VHTR). Descriptive information (e.g., chemical composition and applicable technical specifications and codes) will be provided for each material along with an extensive presentation of mechanical and physical property data including consideration of temperature, irradiation, environment, etc. effects on properties. Access to the Gen IV Materials Handbook will be internet-based with appropriate levels of control. Information and data in the Handbook will be configured to allow search by material classes, specific materials, specific information or property class, specific property, data parameters, and individual data points identified with materials parameters, test conditions, and data source. Details on all of these as well as proposed applicability and consideration of data quality classes are provided in the Implementation Plan. Website development for the Handbook is divided into six phases including (1) detailed product analysis and specification, (2) simulation and design, (3) implementation and testing, (4) product release, (5) project/product evaluation, and (6) product

  11. Desarrollo de un sistema de transformación genética en Paracoccidioides brasiliensis

    Directory of Open Access Journals (Sweden)

    Mauricio Corredor

    2001-04-01

    Full Text Available

    La transformación genética es una alternativa para el conocimiento de genes involucrados en la patogenicidad de los hongos. A la fecha se han transformado algunos hongos utilizando técnicas como luz ultravioleta para obtener mutantes auxotróficas. Así mismo, se ha empleado la transformación basada en la introducción de plásmidos que confieren resistencia a antibióticos bien sea por medio de electroporación o imitando un evento que se presenta naturalmente entre plantas y el bacilo gram negativo Agrobacterium tumefaciens y que consiste en la transferencia del T-DNA del plásmido Ti bacteriano a la célula vegetal, con la consecuente aparición de un tumor en el tallo de
    la planta. Este mecanismo se ha reproducido con éxito en hongos
    filamentosos y en levaduras. En el caso de Paraco ccidioides brasiliensis aún no se dispone de un modelo de transformación. Considerando esta carencia y la necesidad de conocer los genes involucrados en la patogenicidad de este microorganismo, pretendemos desarrollar un sistema de transformación genética para P. brasiliensis utilizando A. tumefaciens.

     

     

  12. Genética humana e sociedade

    OpenAIRE

    Rosa, Vivian Leyser da

    2000-01-01

    Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências da Educação. Análise do campo de estudos sobre o entendimento público da ciência, distinguindo os modelos de deficit cognitivo e interativo, bem como suas implicações na esfera educacional. Estudo do panorama dos avanços atuais da genética humana, do ponto de vista científico, ético e social. Análise de aspectos relativos ao ensino de genética humana nos cursos de graduação da área da saúde, em nove Universidades...

  13. Targeted NextGen Capabilities for 2025

    Science.gov (United States)

    2011-11-01

    increased arrival capacity to single runways by reducing longitudinal wake separation standards for Instrument Flight Rules ( IFR ) operations under certain...b. ABSTRACT unclassified c. THIS PAGE unclassified Standard Form 298 (Rev. 8-98) Prescribed by ANSI Std Z39-18 Targeted NextGen Capabilities...The examples cited are not intended to cover every aircraft and every flight. In some instances, the available capabilities for 2025 will not be

  14. Diversidade genética entre cultivares de mangueiras, baseada em caracteres de qualidade dos frutos

    Directory of Open Access Journals (Sweden)

    Danielle Fabíola Pereira da Silva

    2012-04-01

    Full Text Available A mangueira é uma das fruteiras mais importantes do Brasil. Apesar de existirem muitos cultivares, o cultivo tem sido realizado basicamente com o cultivar 'Tommy Atkins' e existem poucos trabalhos sobre caracterização e análise da diversidade genética dos genótipos disponíveis. Por isso, o objetivo deste trabalho foi estudar a diversidade genética de 15 cultivares de mangueiras, produzidos na Zona da Mata Mineira, sendo oito brasileiros e sete oriundos da Flórida (EUA. Para isto, frutos maduros dos 15 cultivares foram colhidos e analisados química e fisicamente. Os cultivares que se apresentaram mais similares foram 'Kent' e 'Palmer'. O cultivar 'Extrema' não se agrupou com os outros pelo método de agrupamento UPGMA, e, por esta análise houve a separação dos cultivares brasileiros e norte-americanos. Quanto às características químicas, a técnica de componentes principais não agrupou os cultivares 'Extrema' e 'Tommy Atkins' com os demais; já quanto às características físicas, observou-se a mesma separação obtida pelo agrupamento UPGMA, com exceção do cultivar 'Extrema' que, neste caso, agrupou-se com os demais cultivares. Observou-se correlação entre a coloração da polpa, o ângulo hue e o teor de açúcares solúveis totais e entre a coloração da casca, o índice b* e a percentagem de casca e polpa.

  15. Diagnostico genético prenatal y aborto. Dos cuestiones de eugenesia y discriminación

    OpenAIRE

    Villela Cortés, Fabiola; Linares Salgado, Jorge E.

    2012-01-01

    Los avances en genética seguidos de las nuevas tecnologías en la detección temprana de afecciones genéticas conllevan dilemas bioéticos sobre el uso adecuado de estas técnicas, la información que se le da a la mujer embarazada y la decisión que ella tomará al recibirla. Detectar a tiempo anomalías genéticas permite, en algunas ocasiones, el inicio de un tratamiento adecuado que permita que el niño por nacer no desarrolle una enfermedad discapacitante, como el caso de la fenilcetonuria, o una ...

  16. Diagnóstico genético prenatal y aborto. Dos cuestiones de eugenesia y discriminación

    OpenAIRE

    Villela Cortés, Fabiola; Linares Salgado, Jorge E.

    2015-01-01

    Los avances en genética seguidos de las nuevas tecnologías en la detección temprana de afecciones genéticas conllevan dilemas bioéticos sobre el uso adecuado de estas técnicas, la información que se le da a la mujer embarazada y la decisión que ella tomará al recibirla. Detectar a tiempo anomalías genéticas permite, en algunas ocasiones, el inicio de un tratamiento adecuado que permita que el niño por nacer no desarrolle una enfermedad discapacitante, como el caso de la fenilcetonuria, o una ...

  17. Resgate vegetativo por alporquia de genótipos adultos de urucum (Bixa orellana L.

    Directory of Open Access Journals (Sweden)

    Nilton César Mantovani

    2010-09-01

    Full Text Available Este trabalho teve por objetivos avaliar a técnica de alporquia visando ao resgate vegetativo de genótipos de urucum (Bixa orellana L. e a obtenção de plantas fornecedoras de propágulos para processos de propagação clonal. Foram utilizadas dez plantas matrizes de urucum, com 12 anos de idade, obtidas partindo do cruzamento artificial entre os genótipos "Fruto Verde Piloso" X "Fruto Vermelho Liso". Os alporques foram realizados em ramos de 1 a 2 cm de diâmetro, utilizando-se como substrato uma mistura de vermiculita e musgo. Foi avaliado o efeito (1 do tipo de anelamento da casca dos ramos (total ou parcial, com 1 cm de comprimento, (2 do AIB (ácido indol-3-butírico a 0 e 4,92 mM aplicado em papel filtro e (3 do tipo de proteção dos alporques (filmes plásticos transparente ou preto ou tecido tencel, no enraizamento de alporque dos dez genótipos. A técnica de alporquia proporcionou o enraizamento de ramos dos dez genótipos avaliados, com eficiência variável de 20 a 100%, havendo efeito do genótipo sobre a frequência de enraizamento. A sobrevivência desses alporques foi de 100% após o plantio quando estes foram produzidos com anelamento total, tratados com AIB e protegidos com plástico transparente. Em casa de vegetação os alporques desenvolveram ramos partindo da brotação de gemas caulinares constituindo estoques de explantes apropriados para serem utilizados como estacas ou como fontes de segmentos nodais para a propagação in vitro desta espécie.

  18. Análisis genético del virus peruano de la fiebre amarilla

    Directory of Open Access Journals (Sweden)

    Carlos Yábar V

    2002-01-01

    Full Text Available Objetivo: Determinar las variantes genéticas de aislamientos del virus peruano de la Fiebre Amarilla (FA. Materiales y métodos: la región carboxiterminal del gen de la envoltura (E de cinco aislamientos de FA obtenidas de pacientes provenientes de Ayacucho 1978 (PER1, Junín 1995 (PER2, Cerro de Pasco (PER3, Cusco (1998 y San Martín (1999 fue amplificada por PCR, secuenciada y analizada con programas software de ADN. Resultados: el índice de similaridad de la secuencia de nucleótidos entre los cinco aislamientos reveló valores oscilantes entre 94,3% y 99,3%, mientras que la secuencia de aminoácidos presentó valores entre 97,6% y 99,7% de similaridad. El análisis filogenético demostró una distancia genética entre 0,40 y 6,50 mediante la secuencia de nucleótidos y a través de la secuencia de aminoácidos se observó un rango de 0,30 y 4,29. Sin embargo, las secuencias correspondientes a los sitios de glicosilación y a los epítopes de reconocimiento humoral fueron conservadas entre los cinco aislamientos, con excepción de algunos aislamientos de referencia reportados por otros autores. Conclusiones: los virus de FA peruanos forman un grupo filogenético distinto a otros virus de FA sudamericanos, basados en el análisis genéticos del gen E.

  19. Divergencia genética en poblaciones peruanas detectada a partir de las frecuencias haplotípicas del mtDNA y del gen nuclear MBL

    Directory of Open Access Journals (Sweden)

    Jesús H. Córdova

    2011-01-01

    Full Text Available Objetivos: Avanzar en el conocimiento del origen de las poblaciones peruanas estudiadas en un contexto filogeográfico. Diseño: Estudio genético poblacional. Instituciones: Laboratorio de Genética Humana, Facultad de Ciencias Biológicas, Universidad Nacional Mayor de San Marcos, e Instituto de Genética y Biología Molecular, Facultad de Medicina, Universidad San Martín de Porras, Lima, Perú. Participantes: Siete poblaciones peruanas. Metodología: Análisis comparativo de los resultados a partir del estudio del mtDNA y el gen nuclear MBL de siete poblaciones peruanas, procesados de manera separada y luego combinados, utilizando el programa PHYLYP 3.65, para obtener valores FST de diferenciación genética y la construcción de árboles de distancias por aplicación del algorritmo UPGMA y el análisis subsecuente de los agrupamientos (clusters generados. Principales medidas de resultados: Árboles genéticos generados. Resultados: De manera separada, los árboles generados para cada marcador genético tuvieron topologías propias y diferentes entre sí. Procesados de manera combinada, el árbol resultante demostró que los mayores valores de diferenciación genética se hallaron en las Islas del Lago Titicaca (Puno, Perú conocidas -Taquile, Amantani y Anapia-, que fue calificada como muy alta, porque mostró valores de FST de 0.3113, 0.2949 y 0.3348 respecto de las poblaciones estudiadas, tanto fuera del Departamento de Puno -como Chachapoyas, Pucallpa y Chiclayo, respectivamente-, así como a la de los Uro del mismo Puno y del mismo Lago Titicaca (0.2837. Fuera de Puno, el par de poblaciones Chachapoyas-Pucallpa fue el menos divergente, al alcanzar entre ellas un valor de FST de 0.0108, calificándosele de pequeña. Conclusiones: El árbol obtenido del procesamiento de los marcadores vía una matriz combinada demostró que las poblaciones que habitan las islas de Taquile, Amantani y Anapia, divergen notablemente de las restantes cuatro

  20. A ética na história do aconselhamento genético: um desafio à educação médica

    Directory of Open Access Journals (Sweden)

    Cristiano Guedes

    Full Text Available O aconselhamento genético é uma prática que surgiu nos Estados Unidos na década de 1940 e tem se difundido ao redor do mundo com a crescente popularização da informação genética e a profissionalização da genética na saúde pública. É por meio de sessões de aconselhamento que as pessoas são informadas sobre os resultados de testes genéticos e recebem orientações sobre probabilidades, riscos e possibilidades de doenças genéticas. Trata-se de uma prática profissional que combina saúde, assistência e educação. Este ensaio descreve o surgimento e o desenvolvimento da prática de aconselhamento genético e apresenta alguns de seus desafios éticos.

  1. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos

    Directory of Open Access Journals (Sweden)

    Alejandra Mampel

    2011-04-01

    Full Text Available La distrofia muscular de Duchenne/Becker (DMD/B es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70% de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el estudio de alteraciones numéricas en los 79 exones del gen DYS. El estudio fue realizado en 59 individuos pertenecientes a 31 familias no relacionadas. La metodología utilizada fue Multiplex Ligation Dependent Probe Amplification (MLPA. En los 31 casos independientes se estableció además el score clínico, se realizó el test de Raven y se determinaron los valores de creatininfosfoquinasa (CPK en sangre. Nuestros datos revelan una frecuencia de alteraciones numéricas en el gen DYS del 61.3%, provocando un corrimiento del marco de lectura en el 100% de los casos. Se observó una región con mayor tendencia a presentar alteraciones que involucran un solo exón. La tasa de mutación de novo identificada fue del 35.2%. Se halló, a su vez, una asociación significativa entre afectados con alteraciones numéricas y valores del test de Raven de bajo rendimiento. Estos resultados aportan datos a los conocimientos regionales sobre las alteraciones genéticas y su impacto fenotípico en la enfermedad de Duchenne/Becker.

  2. Heterogeneidad clínica y genética en pacientes con retinosis pigmentaria en Pinar del Río. Importancia del asesoramiento genético

    Directory of Open Access Journals (Sweden)

    Nercy Rodríguez Garcia

    2013-12-01

    Full Text Available Introducción: la retinosis pigmentaria (RP es una degeneración progresiva, crónica y de carácter hereditario de la retina, que conduce a discapacidad visual o ceguera sin un tratamiento adecuado. Objetivo: determinar la variabilidad de la expresión clínica en la presentación de la retinosis pigmentaria, así como el tipo de herencia con que se transmite en los enfermos y familias de los individuos ingresados en el servicio provincial de la enfermedad en Pinar del Río, lo que permitirá aplicar una estrategia para el asesoramiento genético individual y familiar. Material y Método: se realizó una investigación descriptiva, retrospectiva y transversal, teniendo como universo y muestra a los 259 pacientes con diagnóstico del padecimiento, registrados en el servicio provincial, de enero a septiembre del año 2012. Resultados: predominó el sexo masculino con 154 pacientes y el grupo de edades entre 40 y 59 años de edad con un 46,71 %. De acuerdo a la clasificación cubana, prevalece el debut precoz, el estadio I, la herencia autosómica recesiva y la forma típica de presentación. Resaltan el síndrome de Usher como entidad asociada y en 99 familias se determinó que la enfermedad sigue un patrón de herencia autosómico recesivo, en 38 de las cuales existe consanguinidad. Las limitaciones de estos enfermos obligan a suministrarles una información adecuada y precisa mediante los servicios de asesoramiento genético. Conclusiones: la gran heterogeneidad clínica y genética de la enfermedad ha generado que la estrategia de asesoramiento genético incluya la personalización del proceso de acuerdo a cada paciente y familia y se le brinde mayor importancia a los grupos de apoyo mutuo.

  3. A c Asses cultiva sment rs usin t of gen ng sim netic d mple se ...

    African Journals Online (AJOL)

    SAM

    2014-08-07

    Aug 7, 2014 ... Centre fo. A set of .... facilitate plant genetic resource conservation and manage- ... 70% ethanol and air dried. ... Dendrogram resulting from cluster analysis of SSR data n ..... NTSYS-PC Numerical taxonomy and multivariate.

  4. Divergência entre genótipos de soja, cultivados em várzea irrigada

    Directory of Open Access Journals (Sweden)

    Elonha Rodrigues dos Santos

    2011-12-01

    Full Text Available A divergência genética é um dos mais importantes parâmetros avaliados por melhoristas de plantas, na fase inicial de um programa de melhoramento genético. Diante disso, objetivou-se com este trabalho avaliar, por meio de técnicas multivariadas, a divergência genética entre 48 genótipos de soja, cultivados em várzea irrigada no Estado do Tocantins, com o intuito de identificar as combinações mais promissoras para produzir recombinações superiores, tanto destinados a produção de óleo e farelo, como do grupo especial, destinados ao consumo humano. O experimento foi conduzido no município de Formoso do Araguaia, TO, em cultivo de várzea irrigada na entressafra de 2010. O delineamento experimental foi o de blocos ao acaso, com quatro repetições. Verificou-se variabilidade entre os genótipos testados. Os resultados dos métodos de agrupamento de Tocher, UPGMA e Variáveis Canônicas foram concordantes entre si e detectaram quatro grupos distintos. As seguintes hibridações são promissoras para produção de grãos de soja destinados a óleo e farelo: M-Soy 8766, M-Soy 9144, A 7002 e M-Soy 9056 com Amaralina e cruzamentos entre M-Soy 8766, M-Soy 9144 e Amaralina com BRSMG 790A, BRS 257, BRS 216 e BRS 213 e são indicados visando a genótipos de soja especiais para alimentação humana.

  5. Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).

    Science.gov (United States)

    Branco, Claudia C; Gomes, Cidália T; De Fez, Laura; Bulhões, Sara; Brilhante, Maria José; Pereirinha, Tânia; Cabral, Rita; Rego, Ana Catarina; Fraga, Cristina; Miguel, António G; Brasil, Gracinda; Macedo, Paula; Mota-Vieira, Luisa

    2015-01-01

    Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. Here, we conducted a hospital-based case-control study of 41 patients from the São Miguel Island (Azores, Portugal), six belonging to a family with HH type-I pseudodominant inheritance, and 35 unrelated individuals fulfilling the biochemical criteria of iron overload compatible with HH type-I. For this purpose, we analyzed the most common HFE mutations- c.845G>A [p.Cys282Tyr], c.187C>G [p.His63Asp], and c.193A>T [p.Ser65Cys]. Results revealed that the family's HH pseudodominant pattern is due to consanguineous marriage of HFE-c.845G>A carriers, and to marriage with a genetically unrelated spouse that is a -c.187G carrier. Regarding unrelated patients, six were homozygous for c.845A, and three were c.845A/c.187G compound heterozygous. We then performed sequencing of HFE exons 2, 4, 5 and their intron-flanking regions. No other mutations were observed, but we identified the -c.340+4C [IVS2+4C] splice variant in 26 (74.3%) patients. Functionally, the c.340+4C may generate alternative splicing by HFE exon 2 skipping and consequently, a protein missing the α1-domain essential for HFE/ transferrin receptor-1 interactions. Finally, we investigated HFE mutations configuration with iron overload by determining haplotypes and genotypic profiles. Results evidenced that carriers of HFE-c.187G allele also carry -c.340+4C, suggesting in-cis configuration. This data is corroborated by the association analysis where carriers of the complex allele HFE-c.[187C>G;340+4T>C] have an increased iron overload risk (RR = 2.08, 95% CI = 1.40-2.94, poverload because they will produce two altered proteins--the p.63Asp [c.187G], and the protein lacking 88 amino acids encoded by exon 2. In summary, we provide evidence that the complex allele HFE-c.[187C>G;340+4T>C] has a role, as genetic predisposition factor, on iron overload in the S

  6. La política internacional de acceso a los recursos genéticos

    Directory of Open Access Journals (Sweden)

    Martha Isabel Gómez Lee

    2007-11-01

    Full Text Available La biodiversidad es un asunto político. ¿Por qué es importante el acceso e intercambio de los recursos genéticos, y cómo se relaciona con las controversias sobre propiedad intelectual y con las negociaciones ambientales y comerciales en el ámbito internacional? La respuesta a estos interrogantes pone en evidencia un conjunto de reglas, interrelaciones internacionales y nuevos actores que de- finen la política internacional de acceso a los recursos genéticos. El Convenio sobre Diversidad Biológica establece que la diversidad biológica está sometida a la soberanía nacional. ¿El acceso estará determinado por un sistema multilateral o por acuerdos bilaterales?

  7. El asesoramiento genético en los déficits visuales y auditivos

    OpenAIRE

    Millán, J.M.; Aller, E.; Jaijo, T.; Grau, E.; Beneyto, M.; Nájera, C.

    2008-01-01

    Objetivo: Las enfermedades hereditarias que afectan a la retina y la audición presentan una amplia heterogeneidad clínica y genética. Durante la pasada década se han producido importantes avances en el conocimiento de la patogenia molecular de estas enfermedades y, actualmente, más de 200 genes y loci están implicados en enfermedades de la retina y más de 60 son responsables de pérdida de audición. Método: El estudio genético molecular es crucial para confirmar el diagnóstico clínico, permite...

  8. Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

    Directory of Open Access Journals (Sweden)

    Bittencourt P.L.

    2002-01-01

    Full Text Available The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72 years with HH. Eight patients (53% were homozygous and one (7% was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2 or homozygous (N = 1 for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

  9. Transferrin Level Before Treatment and Genetic Polymorphism in HFE Gene as Predictive Markers for Response to Adalimumab in Crohn's Disease Patients.

    Science.gov (United States)

    Repnik, Katja; Koder, Silvo; Skok, Pavel; Ferkolj, Ivan; Potočnik, Uroš

    2016-08-01

    Tumor necrosis factor α inhibitors (anti-TNF) have improved treatment of several complex diseases, including Crohn's disease (CD). However, the effect varies and approximately one-third of the patients do not respond. Since blood parameters as well as genetic factors have shown a great potential to predict response during treatment, the aim of the study was to evaluate response to anti-TNF treatment with adalimumab (ADA) between genes HFE and TF and haematological parameters in Slovenian refractory CD patients. Single nucleotide polymorphisms (SNPs) rs1799852 in gene TF and rs2071303 in gene HFE were genotyped in 68 refractory CD patients for which response has been measured using inflammatory bowel disease questionnaire (IBDQ) index. Haematological parameters and IBDQ index were determined before therapy and after 4, 12, 20 and 30 weeks. We found novel strong association between SNP rs2071303 in gene HFE and response to ADA treatment, particularly patients with G allele comparing to A allele had better response after 20 weeks (p = 0.008). Further, we found strong association between transferrin level at baseline and treatment response after 12, 20 and 30 weeks, where average transferrin level before therapy was lower in responders (2.38 g/L) compared to non-responders (2.89 g/L, p = 0.005). Association was found between transferrin level in week 30 and SNP rs1799852 (p = 0.023), and between MCHC level before treatment and SNP rs2071303 (p = 0.007). Our results suggest that SNP in gene HFE as well as haematological markers serve as promising prognostic markers of response to anti-TNF treatment in CD patients.

  10. Market share scenarios for Gen-DIII and gen-IV reactors in Europe

    International Nuclear Information System (INIS)

    Roelofs, F.; Heek, A. V.; Durpel, L. V. D.

    2008-01-01

    Nuclear energy is back on the agenda worldwide in order to meet growing energy demand and especially the growth in electricity demand. Many objectives direct to an increased use of nuclear energy, i.e. minimising energy costs, reducing climate change effects and others. In the light of the potential renewed growth of nuclear energy, the public demands a clear view on what nuclear energy may contribute towards meeting these objectives and especially how nuclear energy may address some socio-political obstructions with respect to economics, radioactive waste, safety and proliferation of fissile materials. To address these questions, the future nuclear reactor park mix in Europe has been analysed applying an integrated dynamic process modelling technique. Various market share scenarios for nuclear energy are derived including sub-variants with regard to the intra-nuclear options. In the analyses, it is assumed that different types of new reactors may be built, taking into account the introduction date of considered Gen-Ill (i.e. EPR) and Gen-IV (i.e. SCWR, HTR, FR) reactors, and the economic evaluation of the complete fuel cycle. The assessment was undertaken using the DANESS code (Dynamic Analysis of Nuclear Energy System Strategies). The analyses show that given the considered realistic nuclear energy demand and given a limited number of available Gen-III and Gen-IV reactor types, the future European nuclear park will exist of combinations of Gen-III and Gen-IV reactors. This mix will always consist of a set of reactor types each having its specific strengths. The analyses also highlight the triggers influencing the choice between different nuclear energy deployment scenarios. (authors)

  11. Contenha-se, se for capaz

    Directory of Open Access Journals (Sweden)

    Mirna Feitoza Pereira

    2008-11-01

    Full Text Available Em O Instinto da Linguagem, Steven Pinker discorre sobre sua célebre tese: a linguagem não é a mais prodigiosa invenção cultural humana. Ela é uma peça da constituição biológica do cérebro. A linguagem é uma habilidade complexa e especializada, que se desenvolve espontaneamente na criança, sem qualquer esforço consciente ou instrução formal, que se manifesta sem que se perceba sua lógica subjacente, que é qualitativamente a mesma em todo indiví­duo, e que difere de capacidades mais gerais de processamento de informações ou de comportamento inteligente. Para Pinker, a concepção de linguagem como um tipo de instinto transmite a idéia de que as pessoas sabem falar mais ou menos da mesma maneira que as aranhas sabem tecer suas teias. Ele apóia suas idéias em Darwin e Chomsky. Palavras-chave linguagem, gramática universal, evolução Abstract In Language Instinct, Steven Pinker argues about his famous thesis: language is not the most prodigious human cultural invention. It is a distinct piece of the biological constitution of the brain. Language is a complex, specialized skill, which develops spontaneously in the child, without conscious effort or formal instruction. It reveals itself without awareness of its underlying logic, which is qualitatively the same in every individual, and which is distinct from more general abilities of information processing of intelligent behavior. According to Pinker, the conception of language as a kind of instinct conveys the idea that people know how to talk in more or less the same way as spiders know how to spin webs. His thesis is founded in Darwin and Chomsky-s theories. Keywords language, universal grammar, evolution

  12. Evaluación de competencias genéricas en el Grado en Ingeniería del Medio Natural

    OpenAIRE

    Molleda Clara, Cristina; San José Fernández, Ana; Vivar Sanz, Alejandro; Martín Muñoz, Gema; Sadornil Arenas, Enrique; Manrique Menéndez, Emilio; Soldevilla Puga, Carlos; Montoro Ordóñez, Teresa

    2014-01-01

    La Universidad Politécnica de Madrid (UPM) promueve la formación y evaluación de las llamadas competencias genéricas en todos sus centros. Con este objetivo, mediante la colaboración de grupos de innovación educativa, se elaboró un “Portal de Competencias”, accesible a toda la comunidad universitaria. En él se incluyen, para cada competencia genérica seleccionada por la universidad, los aspectos más destacables para su adquisición y evaluación (metodología, rúbricas, experiencias, etc.). En e...

  13. Gradiente de riesgo genético HLA-DQ para diabetes tipo 1 y enfermedad celíaca en el noroeste de México

    OpenAIRE

    Mejía-León, M.E.; Ruiz-Dyck, K.M.; Calderón de la Barca, A.M.

    2015-01-01

    Antecedentes: La diabetes tipo 1 (DT1) y la enfermedad celíaca (EC) son 2 enfermedades autoinmunes frecuentes en la infancia y comparten su predisposición genética (HLA-DQ2 y DQ8). La prevalencia de ambas se ha incrementado en el mundo. En el estado de Sonora (15 habitantes/km2), se desconoce información sobre su riesgo genético o la distribución de los alelos asociados en la población general. Objetivo: Comparar la frecuencia alélica HLA-DQ de una muestra representativa de recién nacidos ...

  14. Optimización topológica mediante algoritmos genéticos, estrategias evolutivas y el método de Baluja

    OpenAIRE

    Estupiñan, J.; Oñate, E.; Suárez, B.

    1998-01-01

    El trabajo presenta la aplicación de varios mdtodos evolutivos al campo de la optimización topológica de estructuras. El trabajo desarrollado se basa en la búsqueda de una distribución de material dentro de un dominio específico y bajo unas condiciones de contorno concretas. Los algoritmos evolutivos obedecen a las leyes de superviviencia del mejor dotado de Darwiri y a su base genético molecular: mutación y recombinación del material genético. Los métodos evolutivos (ME) que se presentan ...

  15. Manipulación genética «sensu lato» y Derecho penal: Reflexiones sobre algunos presupuestos dogmáticos

    OpenAIRE

    Peña Guillén, Sandra Catalina

    2009-01-01

    Esta tesis parte de los avances científicos y tecnológicos que proceden del desarrollo de ciencias como la Genética y la Biotecnología, y de las consideraciones que realiza la Bioética, con el fin de analizar la intervención del Derecho penal en estos temas. El estudio se sustenta en los delitos relativos a la manipulación genética tipificados en el Código penal de España de 1995, (la legislación de la autora -ecuatoriana- no tipifica estos delitos). Dentro de este trabajo se considera el con...

  16. MTHFR and HFE, but not preproghrelin and LBP, polymorphisms as risk factors for all-cause end-stage renal disease development.

    Science.gov (United States)

    Bloudíčková, S; Kuthanová, L; Hubáček, J A

    2014-01-01

    End-stage renal disease (ESRD) is a serious health problem worldwide. The high prevalence of cardiovascular diseases and chronic inflammation remains a major cause of morbidity and mortality in haemodialysed patients. Beside some external factors, genetic predisposition both to renal failure and poor prognosis has been assumed. We have collected a total of 1,014 haemodialysed patients and 2,559 unrelated healthy Caucasians. Single-nucleotide polymorphisms (SNPs) in genes for preproghrelin (GHRL), lipopolysaccharide-binding protein (LBP), HFE and MTHFR were genotyped. In the group of patients, significantly more carriers presented the MTHFR T667T (P = 0.002) and HFE Asp63Asp (P = 0.001) and Cys282Cys (P = 0.01) genotypes. The frequencies of individual SNPs within GHRL and LBP genes did not differ between the patients and controls. The trends in genotype frequencies did not differ between the subgroups of patients with different time on haemodialysis. Common variants in MTHFR and HFE could be a risk factor for all-cause ESRD development, but are not predictors for the survival on haemodialysis.

  17. Molecular epidemiology of HFE gene polymorphic variants (C282Y, H63D and S65C) in the population of Espírito Santo, Brazil.

    Science.gov (United States)

    Alves, L N R; Santos, E V W; Stur, E; Silva Conforti, A M A; Louro, I D

    2016-04-27

    Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20). Using genomic DNA extracted from peripheral blood, polymorphic variant identification was performed by polymerase chain reaction-restriction fragment length polymorphism. Statistically significant differences were observed for genotype distribution of C282Y (P HFE gene allele frequencies for the general population, Pomeranian subpopulation, and patients with HH of ES, Brazil.

  18. FRECUENCIAS ALELICAS Y GENOTIPICAS DEL GEN KAPPA CASEINA EN BOVINOS DE DOBLE PROPOSITO

    Directory of Open Access Journals (Sweden)

    Nohémi Gabriela Cortes López

    2012-01-01

    Full Text Available En este trabajo, las frecuencias alélicas (A y B del gen CAS se determinaron como criterio de selección en la calidad de la leche en el ganado bovino de doble propósito. Se tomaron muestras sanguíneas de 200 hembras bovinas y se colocaron en tubos que contenían EDTA. Se amplifico el marcador MB002 a partir de material genético extraído. Los RFLP se realizaron con la enzima de restricción Hinf I para el diagnóstico de los alelos A y B en CASκ. Las frecuencias genotípicas obtenidas correspondían a 0.34, 0.01 y 0.65 para los alelos AA, BB y AB, respectivamente. Las frecuencias alélicas fueron de 0.67 y 0.33 para los alelos A y B, respectivamente. Además, se registró una heterocigosidad promedio de 0.6481. La población es estudio no se encuentra en equilibrio Hardy Weinberg, el valor ji cuadrada fue de 2 = 14.8 con 2 grados de libertad (P < 0.005. Basado en la frecuencia alélica de CAS  B (0.34 observada en este estudio, el ganado de doble propósito puede ser una opción viable para aumentar la calidad de la leche si se utilizan sementales con el genotipo BB para el cruce. De esta manera, los alelos B asociados a la calidad de la leche pueden mejorarse en pocas generaciones.

  19. Recommendations and Requirements for GenCade Simluations

    Science.gov (United States)

    2014-08-01

    will report whether or not GenCade is enabled. If GenCade is disabled , the user will need a new license that includes GenCade...any depth but usually are not deeper than the seaward edge of the surf - zone. In the same way that some shorelines are less desirable for use in...Conference, 1919–1937. ASCE. Wang, P., N. C. Kraus, and R. A. Davis. 1998. Total rate of longshore sediment transport in the surf zone: Field

  20. Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

    Directory of Open Access Journals (Sweden)

    Hiram Larangeira de Almeida Jr

    2002-10-01

    Full Text Available O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5 e 14 (gen KRT14, o que modifica o citoesqueleto na camada basal da epiderme, levando à degeneração dessa camada, formando bolha intra-epidérmica. Mutações na plectina (gen PLEC1, componente da placa interna do hemidesmossoma, levam também à clivagem intra-epidérmica. Na epidermólise bolhosa juncional vários gens estão envolvidos, em decorrência da complexidade da zona da membrana basal, todos levando ao descolamento dos queratinócitos basais na lâmina lúcida, pela disfunção da aderência entre esses e a lâmina densa. Alterações na laminina 5 (gens LAMA3, LAMB3 e LAMC2, integrina alfa6beta4 (gens ITGA6 e ITGB4 e colágeno XVII (gen COL17A1 foram descritas. Por fim, na epidermólise bolhosa distrófica apenas um gen está mutado, alterando o colágeno VII (gen COL7A1, principal componente das fibrilas ancorantes, produzindo clivagem abaixo da lâmina densa, variando fenotipicamente de acordo com a conseqüência da mutação. Outra aplicação importante dessas informações refere-se ao diagnóstico pré-natal, com a perspectiva no futuro da terapia gênica.New data regarding the molecular aspects of the heterogeneous group of epidermolysis bullosa has brought some important information about its pathogenesis. In epidermolysis bullosa simplex the majority of mutations are localized in the genes of the basal cytokeratin 5 (gene KRT5 and 14 (gene KRT14, cytolysis at this layer with intraepidermal blister is seen under light microscopy. Mutations of plectin (gene PLEC1, a protein found in the inner hemidesmosomal plaque, leads also to intraepidermal blisters. In junctional epidermolysis bullosa many proteins from the basal membrane zone are involved, such as laminin 5 (genes

  1. Estructura poblacional y variabilidad genética de Rhodnius prolixus (Hemiptera: Reduviidae procedente de diferentes áreas geográficas de Colombia

    Directory of Open Access Journals (Sweden)

    Diana Carolina López

    2007-01-01

    Resultados. R. prolixus presenta variabilidad genética moderada (Fst 0,057-0,15, entre las poblaciones domiciliadas se encontraron tasas de migración (Nm>1 que revelan flujo genético. Se encontró diferenciación genética de moderada-alta entre la población silvestre de Casanare y las poblaciones domésticas del centro del país (Tolima y Cundinamarca. Conclusión. Las poblaciones domiciliadas de R. prolixus son homogéneas debido a que existe flujo genético entre éstas; lo cual es favorable para el control químico, mientras que la población silvestre agrupa aparte de las domiciliadas. Se evidencia la necesidad de estudiar la estructura genética de los focos silvestres, sus posibles rutas de dispersión y el riesgo epidemiológico que representan.

  2. O impacto da genética na asma infantil

    OpenAIRE

    Pinto,Leonardo A.; Stein,Renato T.; Kabesch,Michael

    2008-01-01

    OBJETIVO: Apresentar os resultados dos estudos mais importantes e recentes sobre a genética da asma. Estes dados devem auxiliar os clínicos gerais a compreender o impacto da genética sobre este distúrbio complexo e como os genes e polimorfismos influenciam a asma e a atopia. FONTES DOS DADOS: Os dados foram coletados do banco de dados MEDLINE. Os estudos de associação genética foram selecionados do Genetic Association Database, um repositório de estudos de associação genética de doenças e dis...

  3. Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis.

    Science.gov (United States)

    Katsarou, Martha-Spyridoula; Latsi, Rosana; Papasavva, Maria; Demertzis, Nikolaos; Kalogridis, Thodoris; Tsatsakis, Aristides M; Spandidos, Demetrios A; Drakoulis, Nikolaos

    2016-07-01

    Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects. The HFE gene also affects the activity of hepcidin, a hormone which acts as a negative regulator of iron metabolism. In this study, we performed a population-based analysis of the distribution of three hemochromatosis-related polymorphisms in the HFE gene (rs1800562, rs1799945 and rs1800730). DNA from 1,446 non‑related individuals of Greek ethnicity was collected and analyzed, either from whole blood or buccal swabs. The frequency distribution of these HFE gene polymorphisms was then determined. The results revealed that in our Greek population cohort (gr) the frequencies of each polymorphism were as follows: rs1800562: GG (wild‑type)=97.0%, GA=1.5%, AA=1.5%; rs1799945: CC (wild‑type)=74.4%, CG=23.4%, GG=2.2%; rs1800730: AA (wild‑type)=98.1%, AT=1.5% and TT=0.4%. No association between the HFE polymorphisms rs1800562, rs1799945 and rs1800730 and gender could be established. As regards the rs1800562 polymorphism, the A allele (mutant) was ~1.8‑fold more frequent in the European population (eur) than in the Greek population [(gr)=2,3%<(eur)=4%]. As for the rs1799945 polymorphism, the G allele (mutant) was 1.2‑fold more frequent in the European population than in the Greek population [(gr)=13,9%<(eur)=17%]. As regards the rs1800730 polymorphism, the T allele (mutant) was ~1.7‑fold more frequent in the European population than in the Greek population [(gr)=1.2%<(eur)=2%]. However, these pathogenic mutations were found more frequently in the Greek population compared to the global population (gl) [rs1800562: (gl)=1%<(gr)=2,3%; rs1799945: (gl)=7%<(gr)=13,9%; rs1800730: (gl)=<1%<(gr)=1.2%]. This suggests that the Greek population may differ genetically from the northern European population

  4. Adaptabilidade e estabilidade de genótipos de milho em diferentes condições ambientais

    Directory of Open Access Journals (Sweden)

    RIBEIRO PEDRO HÉLIO ESTEVAM

    2000-01-01

    Full Text Available O objetivo deste trabalho foi estudar os fatores de adaptabilidade e estabilidade de 20 genótipos de milho (Zea mays L., divididos em quatro grupos genéticos (híbridos simples, duplos e triplos e cultivares de polinização livre, em diferentes níveis de fertilidade, épocas de semeadura e locais do Estado de Minas Gerais. Entre os genótipos avaliadas, o que apresentou maior adaptabilidade foi o híbrido triplo Hatã 3012. Observou-se que a produtividade média dos híbridos triplos foi superior à dos demais grupos. Entre os fatores ambientais estudados, verificou-se que ausência de adubação e semeaduras tardias foram os que mais contribuíram para a diminuição do índice ambiental. As diferentes metodologias usadas para estimar os parâmetros de adaptabilidade e estabilidade, apesar de apresentarem resultados semelhantes, forneceram respostas diferenciadas com relação à inclinação das retas de regressão de alguns genótipos. O nível de fertilizantes e a época de semeadura foram os dois fatores de maior influência na determinação da qualidade dos ambientes.

  5. Microsatélites amplificados al azar (RAM en estudios de diversidad genética vegetal

    Directory of Open Access Journals (Sweden)

    Jaime Eduardo Muñoz Flórez

    2008-12-01

    Full Text Available Se revisó el uso e importancia, ventajas, desventajas y características de la técnica Microsatélites Amplificados al Azar (RAM en uchuva Physalis peruviana, mora Rubus spp, guayaba Psidium guajava y heliconias Heliconia spp. En mora se diferenciaron las especies R. glaucus, R. robustus y R. urticifolius, se detectaron duplicados y se encontró alta variabilidad genética en R. glaucus, la especie más importante. En uchuva se encontró alta diversidad y dos accesiones de fruto rojo que se diferenciaron genéticamente de las amarillas y una región geográfica con alta variabilidad. En guayaba los cebadores fueron altamente polimórficos y se encontró alta variabilidad en el Valle del Cauca. En heliconias y especies relacionadas se diferenciaron las familias del orden Zingiberales, algunos subgéneros y variaciones en la especie. La técnica es de bajo costo, utiliza un cebador, no requiere información previa, es altamente polimórfica y diferencia especies en los taxones evaluados.

  6. Diversidad genética y filogenia molecular de poblaciones de Mauritia flexuosa L.f. “aguaje” de la Amazonía Peruana

    Directory of Open Access Journals (Sweden)

    Jorge Angulo-Quintanilla

    2014-07-01

    Full Text Available Mauritia flexuosa es una especie vegetal amazónica que forma extensas poblaciones denominadas “aguajales”. Como los pobladores amazónicos emplean varios órganos de M. flexuosa para suplir sus necesidades y con fines comerciales, se está ejerciendo un gran impacto negativo sobre esta especie. A pesar de ello, a la fecha no se conoce la diversidad genética de esta especie en la Amazonía peruana. Consecuentemente, los planes de manejo para la especie serían limitados sin este tipo de información. Por tanto, el objetivo de esta investigación fue determinar la diversidad genética y filogenia molecular de poblaciones de M. flexuosa aledañas a la carretera Iquitos-Nauta. Las hojas se colectaron en seis zonas contiguas a la carretera Iquitos–Nauta. El ADN purificado con protocolos estándares fue amplificado mediante la técnica de ADN Polimórfico Amplificado al Azar (RAPD con dos cebadores aleatorios.  En total se generaron 28 amplicones RAPD (26 polimórficos y 2 monomórficos. Dentro de los aguajales la diversidad genética fue tres veces mayor (75±19 % que la diversidad genética entre las seis poblaciones de M. flexuosa (25±19 %. La diferenciación genética entre las poblaciones varió de 0,0 a 0,6. Los aguajales que se agruparon en clados en el dendrograma por su mayor similitud genética tuvieron proximidad geográfica. La similitud genética entre las poblaciones de M. flexuosa depende de la distancia geográfica, de tal manera que las poblaciones con más similitud genética están más próximas entre sí que las que tienen menos similitud genética.

  7. Diversidad genética y filogenia molecular de poblaciones de Mauritia flexuosa L.f. “aguaje” de la Amazonía Peruana

    Directory of Open Access Journals (Sweden)

    Jorge Angulo Quintanilla

    2014-06-01

    Full Text Available Mauritia flexuosa es una especie vegetal amazónica que forma extensas poblaciones denominadas “aguajales”. Como los pobladores amazónicos emplean varios órganos de M. flexuosa para suplir sus necesidades y con fines comerciales, se está ejerciendo un gran impacto negativo sobre esta especie. A pesar de ello, a la fecha no se conoce la diversidad genética de esta especie en la Amazonía peruana. Consecuentemente, los planes de manejo para la especie serían limitados sin este tipo de información. Por tanto, el objetivo de esta investigación fue determinar la diversidad genética y filogenia molecular de poblaciones de M. flexuosa aledañas a la carretera Iquitos-Nauta. Las hojas se colectaron en seis zonas contiguas a la carretera Iquitos–Nauta. El ADN purificado con protocolos estándares fue amplificado mediante la técnica de ADN Polimórfico Amplificado al Azar (RAPD con dos cebadores aleatorios.  En total se generaron 28 amplicones RAPD (26 polimórficos y 2 monomórficos. Dentro de los aguajales la diversidad genética fue tres veces mayor (75±19 % que la diversidad genética entre las seis poblaciones de M. flexuosa (25±19 %. La diferenciación genética entre las poblaciones varió de 0,0 a 0,6. Los aguajales que se agruparon en clados en el dendrograma por su mayor similitud genética tuvieron proximidad geográfica. La similitud genética entre las poblaciones de M. flexuosa depende de la distancia geográfica, de tal manera que las poblaciones con más similitud genética están más próximas entre sí que las que tienen menos similitud genética.

  8. Frecuencia de algunas enfermedades genéticas en Neuropediatría

    Directory of Open Access Journals (Sweden)

    Tatiana Zaldívar Vaillant

    2012-12-01

    Full Text Available Introducción: las enfermedades neurológicas en Pediatría son diversas y obedecen a un gran número de causas: infecciosas, genéticas, metabólicas y degenerativas, entre otras. El diagnóstico genético, dentro del método clínico en Neurología, está relacionado con el diagnóstico etiológico. Existen muy pocas publicaciones que reflejen la frecuencia de las enfermedades neurogenéticas como grupo etiológico. Objetivo: describir la frecuencia de algunas enfermedades neuropediátricas en la Consulta de Neurogenética del Instituto de Neurología y Neurocirugía. Métodos: se realizó una investigación descriptiva y prospectiva en el periodo 2008-2010. Se clasificó a los pacientes por grupos etarios, y se calculó el porcentaje de frecuencia para la atrofia muscular espinal de la infancia, la distrofia muscular tipo Duchenne/Becker, las lesiones estáticas del sistema nervioso central de causa prenatal genética, y para la clasificación de los grupos según tipo de herencia. Resultados: el universo de estudio estuvo conformado por 161 pacientes, 72,6 % del sexo masculino, para una razón de la variable sexo de 2,5. Los escolares fueron mayoría (37,8 %, y la edad promedio 5 años. La distrofia muscular tipo Duchenne fue la enfermedad más frecuente (24,8 %. El 41,40 % clasificó en la herencia autosómica recesiva. Los resultados coinciden con lo reportado en la literatura. Conclusiones: las enfermedades neuromusculares hereditarias, y las lesiones estáticas del sistema nervioso central de causa prenatal genética, son las más frecuentes de solicitud de asesoramiento genético en un servicio de Neurogenética.

  9. Divergência genética entre cinco genótipos de melão rendilhado Genetic divergence among five muskmelon cultivars

    Directory of Open Access Journals (Sweden)

    Adriana Antonieta do Nascimento Rizzo

    2002-06-01

    Full Text Available Estimou-se a divergência genética entre cinco genótipos de melão rendilhado (Cucumis melo var. reticulatus Naud. (JAB-20, JAB-21, JAB-22, JAB-23 e 'Bônus nº 2' e determinou-se qual a contribuição relativa das 16 características avaliadas [nº médio de flores masculinas, hermafroditas/planta; produção total de frutos/m², peso médio dos frutos comerciáveis; diâmetro médio transversal e longitudinal do fruto (DMTF e DMLF; diâmetro médio transversal da inserção do pedúculo (DMTP; espessura média do mesocarpo e epicarpo (EMM e EME; diâmetro médio longitudinal e transversal do lóculo (DMTL e DMLL; proporção da cavidade (PC; desprendimento de sementes (DS; teor de sólidos solúveis totais (SST, pH e acidez titulável (AT] na divergência gen��tica. Obtiveram-se dois grupos de similaridade: I- JAB-20, JAB-21 e 'Bônus nº2' e II- JAB-22 e JAB-23. As características DMLF, DMTP, DMLL, DS e SST foram as que mais contribuíram para a divergência genética entre os genótipos.The genetic divergence of five cultivars of muskmelon was estimated (Cucumis melo var. reticulatus Naud (JAB-20, JAB-21, JAB-22, JAB-23 and 'Bônus nº2' and the relative contribution of each 16 characteristics were determined (number of male flowers per plant; total production of fruit, weight of fruits; longitudinal and transversal diameters of fruits; thickness and color of flesh and skin; longitudinal and transversal loculos diameter of fruits; seed loosing; netting thickness; and % total solvers solids, pH and total acidity in genetic divergence. Two groups of similarity were formed between the genitors by the values of D², one of then was constituted of the JAB-20 and JAB-21 and 'Bônus nº 2' genotypes, and another of the JAB-22 and JAB-23. The characteristics of longitudinal loculos diameters, longitudinal diameter of fruits, transversal diameter of peduncle insertion, % total solvers solids and seed loosing contributed to for genetic

  10. Trazabilidad genética en ganado bovino: Estudio comparativo de la eficacia de microsatélites y SNPs.

    OpenAIRE

    Sanz Fernández, Arianne; Rodellar Penella, Clementina; Zaragoza Fernández, María Pilar

    2011-01-01

    La crisis de confianza de los consumidores relacionada con la producción animal y la producción de carne, ha supuesto una creciente sensibilización de todos los sectores en los temas relacionados con la seguridad alimentaria. En este sentido la trazabilidad se ha convertido en una herramienta fundamental al servicio de la calidad alimentaria. En la presente memoria se propone el establecimiento de un sistema de trazabilidad genética basado en marcadores de ADN. Se ha realizado un estudio comp...

  11. Las bases genéticas de la longevidad y la hipótesis de las abuelas

    OpenAIRE

    Madrigal, Lorena

    2005-01-01

    La idea de que la longevidad inusual se transmita por vía materna se apoya en observaciones empíricas de que los centenarios tienen una frecuencia alta de ciertos alelos del mtADN en comparación a la población general. Estos estudios han comparado el material genético de centenarios con sujetos de la población general cuando los controles con los que se deberían de comparar los centenarios son los individuos que nacieron en la misma generación pero que no vivieron tantos años. La hipótesis qu...

  12. Líneas de ratones originales como modelos experimentales en genética y mejoramiento animal

    OpenAIRE

    Oyarzabal, M. I.

    2011-01-01

    Los experimentos de selección a largo plazo permiten estudiar los límites de la respuesta a la selección artificial y las modificaciones que se pueden producir en otros caracteres no seleccionados. En este tipo de experimentos se utilizan, generalmente, líneas seleccionadas con Ne>40 originadas a partir de poblaciones exocriadas con una amplia base genética. Sin embargo, en 1986, en la Facultad de Ciencias Veterinarias (U. N. R.), se fundaron dos pares de líneas de selección divergente de pes...

  13. TidGen Power System Commercialization Project

    Energy Technology Data Exchange (ETDEWEB)

    Sauer, Christopher R. [President & CEO; McEntee, Jarlath [VP Engineering & CTO

    2013-12-30

    ORPC Maine, LLC, a wholly-owned subsidiary of Ocean Renewable Power Company, LLC (collectively ORPC), submits this Final Technical Report for the TidGen® Power System Commercialization Project (Project), partially funded by the U.S. Department of Energy (DE-EE0003647). The Project was built and operated in compliance with the Federal Energy Regulatory Commission (FERC) pilot project license (P-12711) and other permits and approvals needed for the Project. This report documents the methodologies, activities and results of the various phases of the Project, including design, engineering, procurement, assembly, installation, operation, licensing, environmental monitoring, retrieval, maintenance and repair. The Project represents a significant achievement for the renewable energy portfolio of the U.S. in general, and for the U.S. marine hydrokinetic (MHK) industry in particular. The stated Project goal was to advance, demonstrate and accelerate deployment and commercialization of ORPC’s tidal-current based hydrokinetic power generation system, including the energy extraction and conversion technology, associated power electronics, and interconnection equipment capable of reliably delivering electricity to the domestic power grid. ORPC achieved this goal by designing, building and operating the TidGen® Power System in 2012 and becoming the first federally licensed hydrokinetic tidal energy project to deliver electricity to a power grid under a power purchase agreement in North America. Located in Cobscook Bay between Eastport and Lubec, Maine, the TidGen® Power System was connected to the Bangor Hydro Electric utility grid at an on-shore station in North Lubec on September 13, 2012. ORPC obtained a FERC pilot project license for the Project on February 12, 2012 and the first Maine Department of Environmental Protection General Permit issued for a tidal energy project on January 31, 2012. In addition, ORPC entered into a 20-year agreement with Bangor Hydro Electric

  14. HFE gene mutation and oxidative damage biomarkers in patients with myelodysplastic syndromes and its relation to transfusional iron overload: an observational cross-sectional study.

    Science.gov (United States)

    De Souza, Geane Felix; Ribeiro, Howard Lopes; De Sousa, Juliana Cordeiro; Heredia, Fabíola Fernandes; De Freitas, Rivelilson Mendes; Martins, Manoel Ricardo Alves; Gonçalves, Romélia Pinheiro; Pinheiro, Ronald Feitosa; Magalhães, Silvia Maria Meira

    2015-04-03

    A relation between transfusional IOL (iron overload), HFE status and oxidative damage was evaluated. An observational cross-sectional study involving 87 healthy individuals and 78 patients with myelodysplastic syndromes (MDS) with and without IOL, seen at University Hospital of the Federal University of Ceará, Brazil, between May 2010 and September 2011. IOL was defined using repeated measures of serum ferritin ≥1000 ng/mL. Variations in the HFE gene were investigated using PCR/restriction fragment length polymorphism (RFLP). The biomarkers of oxidative stress (plasmatic malonaldehyde (MDA), glutathione peroxidase (GPx) and superoxide dismutase (SOD)) were determined by spectrophotometry. The HFE gene variations were identified in 24 patients (30.77%) and 5 volunteers (5.74%). The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL. One patient showed double heterozygous variant (C282Y/H63D) and serum ferritin of 11,649 ng/mL. In patients without IOL, the H63D variant was detected in 29.34%. Serum MDA levels were highest in patients with MDS with IOL, with a significant difference when compared with patients without IOL and healthy volunteers, pointing to the relationship between IOL and oxidative stress. The GPx and SOD were also significantly higher in these patients, indicating that lipid peroxidation increase was followed by an increase in antioxidant capacity. Higher ferritin levels were observed in patients with HFE gene variation. 95.7% of patients with MDS with the presence of HFE gene variations had received more of 20 transfusions. We observed a significant increase in MDA levels in patients with MDS and IOL, suggesting an increased lipid peroxidation in these patients. The accumulation of MDA alters the organisation of membrane phospholipids, contributing to the process of cellular degeneration. Results show that excess iron intensifies the process of cell damage through oxidative stress

  15. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.

    Science.gov (United States)

    Pelucchi, Sara; Mariani, Raffaella; Calza, Stefano; Fracanzani, Anna Ludovica; Modignani, Giulia Litta; Bertola, Francesca; Busti, Fabiana; Trombini, Paola; Fraquelli, Mirella; Forni, Gian Luca; Girelli, Domenico; Fargion, Silvia; Specchia, Claudia; Piperno, Alberto

    2012-12-01

    Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and expression of hereditary hemochromatosis differ largely among cases of homozygous p.C282Y. Genetic factors might be involved in addition to environmental factors. In the present study, we analyzed 50 candidate genes involved in iron metabolism and evaluated the association between 214 single nucleotide polymorphisms in these genes and three phenotypic outcomes of iron overload (serum ferritin, iron removed and transferrin saturation) in a large group of 296 p.C282Y homozygous Italians. Polymorphisms were tested for genetic association with each single outcome using linear regression models adjusted for age, sex and alcohol consumption. We found a series of 17 genetic variants located in different genes with possible additive effects on the studied outcomes. In order to evaluate whether the selected polymorphisms could provide a predictive signature for adverse phenotype, we re-evaluated data by dividing patients in two extreme phenotype classes based on the three phenotypic outcomes. We found that only a small improvement in prediction could be achieved by adding genetic information to clinical data. Among the selected polymorphisms, a significant association was observed between rs3806562, located in the 5'UTR of CYBRD1, and transferrin saturation. This variant belongs to the same haplotype block that contains the CYBRD1 polymorphism rs884409, found to be associated with serum ferritin in another population of p.C282Y homozygotes, and able to modulate promoter activity. A luciferase assay indicated that rs3806562 does not have a significant functional role, suggesting that it is a genetic marker linked to the putative genetic modifier rs884409. While our results support the hypothesis that polymorphisms in genes regulating iron metabolism may modulate penetrance of HFE-hereditary hemochromatosis, with emphasis on

  16. Gen IV Materials Handbook Functionalities and Operation

    International Nuclear Information System (INIS)

    Ren, Weiju

    2009-01-01

    This document is prepared for navigation and operation of the Gen IV Materials Handbook, with architecture description and new user access initiation instructions. Development rationale and history of the Handbook is summarized. The major development aspects, architecture, and design principles of the Handbook are briefly introduced to provide an overview of its past evolution and future prospects. Detailed instructions are given with examples for navigating the constructed Handbook components and using the main functionalities. Procedures are provided in a step-by-step fashion for Data Upload Managers to upload reports and data files, as well as for new users to initiate Handbook access.

  17. Gen IV. Technical and economical aspects

    International Nuclear Information System (INIS)

    Kaluzny, Y.; Legee, F.

    2010-01-01

    In this presentation author deals with development of nuclear reactor type of Generation IV. He concluded that: - Nuclear energy is competitive with regards to the other generation sources; Its competitiveness also increases with CO 2 cost. Considering the nuclear cost breakdown of LWR reactors, it turns out that the uranium is currently not in the range of a threshold for FBR deployment; - The global balance of uranium supply and demand and also innovation required to fulfil GEN IV objectives would probably imply the emergence of fast reactor competitiveness after the turn of the mid-century; - We shall need fast reactors in the coming decade.

  18. Gen IV Materials Handbook Functionalities and Operation

    Energy Technology Data Exchange (ETDEWEB)

    Ren, Weiju [ORNL

    2009-12-01

    This document is prepared for navigation and operation of the Gen IV Materials Handbook, with architecture description and new user access initiation instructions. Development rationale and history of the Handbook is summarized. The major development aspects, architecture, and design principles of the Handbook are briefly introduced to provide an overview of its past evolution and future prospects. Detailed instructions are given with examples for navigating the constructed Handbook components and using the main functionalities. Procedures are provided in a step-by-step fashion for Data Upload Managers to upload reports and data files, as well as for new users to initiate Handbook access.

  19. Adaptabilidade na produção de massa verde e grãos de genótipos de milho no Tocantins

    Directory of Open Access Journals (Sweden)

    Edmar Vinícius de Carvalho

    Full Text Available Condições distintas de cultivo fazem com que a resposta dos genótipos seja diferente em cada situação. Para amenizar o efeito desta interação são realizadas análises de adaptabilidade e estabilidade, que auxiliam na escolha dos genótipos. Porém, muitas vezes, um genótipo apresenta diversas finalidades, causando problemas ao agricultor em algumas situações e, o uso de genótipos específicos, poderia ser uma solução. O objetivo desta pesquisa foi estudar a adaptabilidade e estabilidade de genótipos de milho na região Centro-Sul do Estado do Tocantins, e classificá-los, quanto a tendência da finalidade produtiva: grãos ou massa verde. Foram realizados oito experimentos em dois municípios do Tocantins na entressafra 2010 e na safra 2010/2011, sendo avaliados 16 genótipos de milho. Avaliou-se a massa verde total da planta e a produção de grãos (em g planta-1, as quais foram usadas na análise de adaptabilidade e estabilidade e, posteriormente buscou-se classificar a tendência da finalidade produtiva dos genótipos. Os genótipos P09, P12, P10, H02 e H01 apresentaram classificação do coeficiente de regressão superior na produção de grãos em relação à massa verde total da planta, acontecendo o contrário com os genótipos P02 e P01. O genótipo H01, quanto à produção de grãos, foi adaptado a ambientes favoráveis e apresentou tendência da finalidade produtiva para esta característica. Ao contrário dos genótipos P08 e P02, que foram adaptados a ambos ambientes e a ambientes favoráveis, respectivamente, quanto à massa verde total da planta e, obtiveram tendência da finalidade produtiva para esta característica.

  20. Future strategy of SE

    International Nuclear Information System (INIS)

    Arcelli, M.

    2006-01-01

    In this presentation author (General Director of Slovenske elektrarne, a. s.) presents structure and investment plans of SE. The feasibility study of construction of the blocks 3 and 4 of the Mochovce NPP is presented

  1. Diversidade genética de pacu utilizado em programas de repovoamento nos rios Tietê e Grande, Brasil

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    Ricardo Pereira Ribeiro

    2015-12-01

    Full Text Available Piaractus mesopotamicus é um peixe tropical que nos últimos anos tem apresentado uma diminuição no número de populações naturais. Programas de repovoamento vêm sendo utilizados como método de conservação, entretanto, o monitoramento genético das populações e dos estoques de reprodutores é importante para conferir a viabilidade desse tipo de programas. O objetivo do presente estudo foi avaliar de forma inédita a diversidade genética de populações selvagens (WPs e estoques de reprodutores (BSs de P. mesopotamicus utilizados em programas de repovoamento dos rios Tietê e Grande, através de marcadores microssatélite. Seis loci microssatélite foram amplificados usando DNA extraído de nadadeira caudal de 279 indivíduos adultos. Foi observada alta variabilidade genética intra-populacional, com medias de heterozigosidade observada entre 0.203 e 0.833. O número de alelos por locus foi de três (locus Pme28 e Pme32 a 13 (locus Pme4, Pme5 e Pme14 e houve diferenciação de alelos entre WPsxWPs e WPsxBSs. Essa diferenciação foi confirmada pela análise do dendrograma que mostrou a formação de três agrupamentos específicos. Observaram-se quatro alelos compartilhados entre WPs2012xBSs. Valores positivos de FIS mostraram a presença de endogamia em sete das 10 coletas realizadas nas WPs. A análise de AMOVA e do FST indicou moderada e muito alta diferenciação genética entre WPsxWPs e diferenciação genética muito alta em WPsxBSs. Esses resultados foram confirmados pelos valores de distância e identidade genética e pelo número de migrantes. Os resultados demonstraram uma adequada variabilidade genética intra-populacional, similaridade entre BSsxBSs e diferenciação genética entre WPs2011xWPs2012 e WPsxBSs. Observou-se parcialmente a presença de indivíduos oriundos do programa de repovoamento no ambiente natural.

  2. Os fatores genéticos da insônia - Uma revisão de literatura

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    Guilherme Sousa Ferreira

    2017-05-01

    Full Text Available A insônia é um dos distúrbios do sono caracterizado pela dificuldade em iniciar ou manter o sono. Isso se reflete em um sono de baixa qualidade que pode causar problemas ao longo do dia, como cansaço e falta de energia. Sob essa condição, estão associados alguns fatores genéticos, entre eles os genes ABCC9, 5-HTT e Clock. A presente revisão de literatura tem por objetivo a explanação acerca dos fatores genéticos relacionados com o distúrbio da insônia. Trata-se de uma revisão de literatura de forma sistemática, realizada por meio de um levantamento bibliográfico que procura reunir os conhecimentos sobre as características da insônia e sua herança gênica. Encontrou-se uma relevância de achados autorais valiosos para a síntese dessa pesquisa. Portanto, a partir do estudo abordado nessa revisão, torna-se evidente a importância do conhecimento das causas genéticas do distúrbio da insônia para a melhor abordagem clínica, haja vista a relevância desse mecanismo biológico.

  3. Genetic similarity between coriander genotypes using ISSR markers Similaridade genética entre genótipos de coentro por marcadores ISSR

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    Roberto de A Melo

    2011-12-01

    trabalhos de estimativas de similaridade genética. Portanto, este trabalho teve como objetivo avaliar a similaridade genética entre dez genótipos de coentro (nove cultivares e uma linhagem por meio de marcadores ISSR. As cultivares utilizadas foram Americano, Asteca, Palmeira, Português, Santo, Supéria, Tabocas, Tapacurá, Verdão e a linhagem experimental HTV-9299. A similaridade genética entre as cultivares foi estimada com base nos marcadores moleculares de ISSR, utilizando-se 227 regiões de bandas de ISSR. O oligonucleotídeo UBC 897 gerou o maior número de fragmentos (16, resultando em um maior polimorfismo. Os resultados indicam que os vinte e nove oligonucleotídeos escolhidos foram satisfatórios para detecção de polimorfismo. Como resultado da análise de agrupamento a partir dos dados de similaridade, verificou-se a presença de dois grupos e dois subgrupos. A similaridade calculada para os genótipos variou de 52 a 75%. A menor similaridade ficou entre Português e Verdão, com 52%. Já a maior similaridade foi obtida entre Português e Palmeira com 75%. O ISSR é eficiente na identificação de polimorfismo de DNA em coentro.

  4. Variabilidad genética de la respuesta inflamatoria: I. Polimorfismo -511 C/T en el gen IL1β en diferentes subpoblaciones peruanas

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    Óscar Acosta

    2012-07-01

    Full Text Available El polimorfismo -511 citosina/timina (-511 C/T en la región promotora del gen interleuquina 1 beta (IL1β estα implicado en la producciσn diferencial de la citoquina y por tanto puede estar asociado a la respuesta inmuno-inflamatoria en obesidad, dislipidemias, cardiopatías, cáncer, infecciones, y el tratamiento con nutrientes y fármacos. Objetivos: Establecer la distribución de frecuencias de los genotipos y alelos del polimorfismo -511 C/T del gen IL1β en diferentes subpoblaciones peruanas. Diseño: Estudio descriptivo, observacional, transversal. Instituciones: Centro de Investigación de Bioquímica y Nutrición e Instituto de Medicina Tropical D.A. Carrión, Facultad de Medicina, UNMSM y Centro de Genética y Biología Molecular, Facultad de Medicina, USMP, Lima, Perú. Participantes: Pobladores peruanos. Intervenciones: Extracción de ADN genómico a partir de muestras sanguíneas o epitelio bucal según metodología estándar, de 168 individuos de 9 grupos subpoblacionales: 23 mestizos de Lima, 33 amazónicos (20 de Pucallpa y 13 de Amazonas y 112 andinos (12 de Ancash, 10 de Cajamarca, 18 de Huarochirí-Lima, 25 de Puno-Taquile, 25 de Puno-Uros y 22 de Puno-Anapia. Análisis del polimorfismo -511 C/T mediante la técnica de PCR/RFLP, con primers específicos y digestión con la enzima de restricción AvaI, detectándose los fragmentos por electroforesis en geles de agarosa al 2% y tinción con bromuro de etidio. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen IL1β. Resultados: Se encontró las siguientes frecuencias genotípicas CC=0,024; CT=0,369 y TT=0,607, consistentes con el equilibrio de Hardy-Weinberg; y las frecuencias alélicas fueron alelo C=0,208 y aleloT= 0,792. La frecuencia del alelo T, considerado el mutante, fue muy alta en los Uros de Puno (0.940 y más baja en los mestizos de Lima (0.609. La comparación de las frecuencias genotípicas (TT versus CT+CC y alélicas (T versus C

  5. Estudios genéticos en las comunidades indígenas del nororiente colombiano

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    Humberto Ossa

    1994-01-01

    Full Text Available Se presentan las frecuencias génicas de los grupos sanguíneos ABO, Rh, Kell, Duffy, Kidd, Diego y MNSs en las siete comunidades que viven en el nororiente columbiano (wayrl, Barf, Arhuaco, Yuco, Kogi, Arsario y Chimila. Además se presenta el índice de mezcla racial, con excepción de los Arsario, y algunos aspectos iniciales de las distancias genéticas, con excepción de los Arsario y los Chimila, sobre la base de cinco loci informativos. Las frecuencias génicas fueron obtenidas a partir de los genotipos deducidos a través de los arboles familiares. Geográficamente el nororiente colombiano se encuentra conformado por los departamentos de la Guajira, Magdalena, Cesar y Norte de Santander. En la península de la Guajira viven los Wayu; en la Sierra Nevada de Santa Marta habitan los Kogi, los Arhuaco y los Arsario, todos descendientes de los primitivos Taironas. En la Serranía del Perija encontramos los Yuco al norte y los Barf al sur y en el departamento del Magdalena encontramos los Chimila. Estos grupos indígenas fueron estudiados para siete sistemas genéticos polimórficos que comprenden 23 alelos y 18 especificidades serológicas: ABO(tres alelos,Rh (seisalelos, Kell (dos alelos,Duffy (tres alelos, Kidd (tres alelos,Diego (dos alelos y MNSs (cuatro alelos. EI estudio se adelanto utilizando anticuerpos policlonales y monoclonales y las técnicas de tipificación convencionales. Se realizaron quince visitas a las siete comunidades y se recolectaron 473 muestras sanguíneas distribuidas en 63 familias de dos, tres y cuatro generaciones. Se presentan los resultados para frecuencias de fenotipos y genotipos en las poblaciones estudiadas y los resultados del análisis del equilibrio de Hardy-Weinberg.

  6. SE-VYZ

    International Nuclear Information System (INIS)

    Anon

    2004-01-01

    On this CD compact disc 6 video-films (A-1 NPP; Bituminization; Cementation; Pressing; The Interim spent fuel storage facility; Transport into the National radioactive waste repository Mochovce; Ignition; and Vitrification). In these films process of radioactive waste treatment in the Bohunice Radioactive Waste Processing Center (SE-VYZ) is presented. 2 presentations about radioactive wastes treatment in the SE-VYZ are included

  7. Avaliação genética de touros usando produção em lactações completas ou parciais projetadas: 3. Confiabilidade e ganhos genéticos

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    Melo Cláudio Manoel Rodrigues de

    2000-01-01

    Full Text Available Para estudar a viabilidade de se usarem produções em lactações parciais, projetadas, na avaliação do mérito genético de touros, foram utilizadas 4595 lactações de 2254 vacas, filhas de 145 touros de 1618 matrizes, distribuídas em 18 rebanhos, com partos entre 1980 e 1997. A partir de 91, 151, 211 ou 241 dias de lactação, projetaram-se 10, 30, 50 ou 70% das lactações, para a duração da lactação observada e para 305 dias. As estimativas dos parâmetros genéticos foram obtidas pelo sistema MTDFREML. Incluíram-se no modelo, independente da característica, efeitos fixos de rebanho-ano, época de parto e idade da vaca ao parto, com termos linear e quadrático, considerando-se efeitos aleatórios de animal, efeito permanente de ambiente e erro. A média das confiabilidades, obtida por meio das produções estimadas (PE, variou de 0,60 a 0,67, utilizando-se P305 igual a 0,60. O ganho genético anual pela seleção dos touros utilizando as PE foi, em média, 24,27% maior que o ganho genético anual da P305, quando as lactações foram projetadas para a duração da lactação observada, e 25,65% superior, quando as lactações foram projetadas para P305. As confiabilidades obtidas, bem como os ganhos genéticos anuais estimados nas avaliações genéticas, usando as PE, foram semelhantes àquelas obtidas para a produção de leite até 305 dias.

  8. Genética, performance física humana e doping genético: o senso comum versus a realidade científica

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    Rodrigo Gonçalves Dias

    2011-02-01

    Full Text Available Atletas de elite são reconhecidos como fenômenos esportivos e o potencial para atingir níveis superiores de performance no esporte está parcialmente sob o controle de genes. A excelência atlética é essencialmente multifatorial e determinada por complexas interações entre fatores ambientais e genéticos. Existem aproximadamente 10 milhões de variantes genéticas dispersas por todo o genoma humano e uma parcela destas variantes têm demonstrado influenciar a responsividade ao treinamento físico. Os fenótipos de performance física humana parecem ser altamente poligênicos e alguns estudos têm comprovado a existência de raras combinações genotípicas em atletas. No entanto, os mecanismos pelos quais genes se interagem para amplificar a performance física são desconhecidos. O conhecimento sobre os genes que influenciam a treinabilidade somado ao potencial uso indevido dos avanços da terapia gênica, como a possível introdução de genes em células de atletas, fez surgir o termo doping genético, um novo e censurado método de amplificação da performance física, além dos limites fisiológicos. Aumentos na hipertrofia muscular esquelética e nos níveis de hematócrito estão sendo conseguidos através da manipulação da expressão de genes específicos, mas a grande parte das impressionáveis alterações foi obtida em experimentação com animais de laboratório. A compreensão dos resultados científicos envolvendo genética, performance física humana e doping genético é uma difícil tarefa. Com o propósito de evitar a contínua má interpretação e propagação de conceitos errôneos, esta revisão, intencionalmente, vem discutir as evidências científicas produzidas até o momento sobre o tema, permitindo a compreensão do atual "estado da arte"

  9. Pré-melhoramento do camucamuzeiro: estudo de parâmetros genéticos e dissimilaridade

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    Walnice Maria Oliveira do Nascimento

    2014-08-01

    Full Text Available O camucamuzeiro pertence à família Myrtaceae e é espécie em processo de domesticação, encontrada na forma extrativa, a partir de plantas crescendo naturalmente nas margens dos rios e lagos, ou cultivadas em pequenas áreas de terra firme. As estimativas e a compreensão dos parâmetros genéticos desta espécie são importantes para o conhecimento da estrutura genética das populações e para a inferência da diversidade genética presente, além de proporcionar subsídios para predizer os ganhos genéticos e o possível sucesso no programa de melhoramento dessa cultura. Neste sentido, o objetivo deste trabalho foi estimar parâmetros genéticos e a dissimilaridade genética, em acessos existentes no Banco Ativo de Germoplasma de camucamuzeiro, da Embrapa Amazônia Oriental. Para o estudo, foram analisados 46 progênies, colhidos 40 frutos por planta matriz em completo estádio de maturação (frutos com epicarpo totalmente roxo, sendo avaliados sete caracteres morfoagronômicos: peso de fruto (g, PFR, comprimento de fruto (cm, CFR, diâmetro de fruto (cm, DFR, peso da casca (g, PCS, espessura da casca (cm, ECS, número de sementes (n, NSE, peso de sementes (g, PSE. Por meio do Programa Genes, estimaram-se os componentes de variância, herdabilidade e a variabilidade. A importância relativa de caracteres e dissimilaridades entre as progênies, bem como as correlações genéticas entres os caracteres avaliados também foram estudadas. Verificou-se que há dissimilaridade entre os acessos do BAG de camucamuzeiro e que, por causa das correlações significativas entre as variáveis, podem-se adotar métodos de seleção indireta como ferramenta auxiliar no processo de domesticação e melhoramento desta espécie.

  10. O papel de marcadores moleculares na genética forense

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    Daniele Decanine

    2016-07-01

    Full Text Available O objetivo desse trabalho foi apresentar uma revisão bibliográfica sobre as tecnologias utilizadas na Genética Forense, enfatizando o uso de marcadores moleculares para a identificação humana. Apresento aqui alguns exemplos do potencial da Biologia Molecular para auxiliar na investigação criminal, bem como na definição de parentesco (maternidade e paternidade. A utilização desses marcadores é atualmente a peça fundamental para os testes de DNA forense. Estes sistemas são, na sua maioria, baseados na análise de painéis de sequências microssatélites específicas (STRs. Foi possível discorrer sobre o uso forense do DNA, sobre a presença de regiões hipervariáveis no material genético, o papel de marcadores moleculares, bem como abordar técnicas de análise de DNA e suas aplicações. A busca por novas metodologias se faz importante para reduzir os custos e impulsionar uma nova cultura genética na Ciência Forense, as quais terão impacto no futuro do DNA forense com a expansão da Biologia Molecular.

  11. Dilemas genéticos y la Iglesia Católica

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    Juan María Velasco, SJ

    2017-01-01

    Full Text Available En las sociedades occidentales, en las que conviven múltiples paradigmas éticos, los dilemas que plantea la genética son entendidos y resueltos de distintas maneras, según el modo de concebir quién es el ser humano y cuáles son los derechos que avalan su dignidad. En este artículo se estudian los argumentos y los criterios que se ofrecen desde el Magisterio de la Iglesia Católica para tomar conciencia y decidir, conforme a esa visión creyente de la realidad, en los conflictos bioéticos que se generan en esta área del saber.

  12. Estructura genética de la población colornbiana

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    Carlos Sandoval

    1993-01-01

    Full Text Available Se presenta el análisis de 8 sistemas genéticos, en 30.259 individuos de una muestra obtenida entre los años 1984 a 1990 en todas las regiones del país, de una población estudiada en casos de disputas de paternidad. A partir de la muestra se deriva tanto la frecuencia fenotípica como la frecuencia génica de cada uno de los marcadores en estudio, y se opero su distribución por regiones naturales y políticas. Tomando como referencia poblaciones ancestrales, el análisis de la muestra nos da un cuadro de mezcla tri-etnica, para cada uno de los genes y para la totalidad de los mismos, para Colombia, con base en la utilización del programa de computador MENDEL.

  13. Diversidad genética de Dioscorea trifida “sachapapa” de cinco cuencas hidrográficas de la amazonía peruana

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    Jhonatan Pérez Arévalo

    2013-12-01

    Full Text Available Dioscorea trifida “sachapapa” es una de las especies promisorias amazónicas que podemos considerarla huérfana de la ciencia, por las escasas investigaciones que hay sobre esta especie. El objetivo de esta investigación fue determinar la diversidad genética intra e interpoblacional de D. trifida de cinco cuencas hidrográficas de la amazonía peruana. Las hojas fueron colectadas de una colección de germoplasma y purificó el ADN con métodos estándares. El polimorfismo genético se evaluó con la técnica RAPD y los parámetros de genética poblacional fueron estimados con el programa POPGENE. Los análisis espectrofotométrico (A260/A280=1,7±0,1 y electroforético (bandas de ADN íntegras mostraron que el ADN purificado fue de alta calidad. Asimismo, la cantidad obtenida fue apropiada para estudios de diversidad genética (rendimiento promedio = 582±248 mg ADN/mg hojas. La diversidad genética intrapoblacional más alta se encontró en la cuenca del Itaya (h = 0,24±0,11 y la más baja en la cuenca del Marañón (h = 0,10±0,04. Adicionalmente, la diversidad genética interpoblacional más alta se registró entre las poblaciones de Itaya vs Ucayali (GST = 1,00, mientras que la más baja entre las poblaciones de Nanay vs Tapiche (GST = 0,07. En conclusión, D. trifida muestra variación en su diversidad genética intra e interpoblacional en las cinco cuencas hidrográficas de la amazonía peruana, siendo la cuenca del Itaya la que presenta mayor diversidad genética intrapoblacional y las poblaciones de Itaya vs Ucayali las que presentan mayor diversidad genética interpoblacional, que en parte se atribuyen al flujo de genes diferencial entre las poblaciones analizadas.

  14. Efecto sedante del midazolam genérico versus innovador en ratas Wistar

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    Radamés Alemón-Medina

    2015-11-01

    Full Text Available Antecedentes: ocho de cada diez pacientes en Terapia Intensiva del Instituto Nacional de Pediatría no obtienen el mismo efecto ansiolítico y sedante con midazolam genérico (PiSA®, que con el innovador (Dormicum, Roche® a pesar de que su biodisponibilidad es de 100%.  Objetivo: determinar diferencias significativas en el efecto sedante del midazolam genérico y del innovador administrados parenteralmente.  Material y métodos: estudio aleatorizado cruzado en 24 ratas Wistar macho distribuidas en 4 grupos (n=6. A cada individuo se le administró una dosis de 0.5 mg/kg de peso vía intraperitoneal. Se determinaron los grados de sedación mediante la escala de Salamone. Se midió la concentración del fármaco en las ampolletas de ambas marcas por cromatografía líquida de alta resolución. Resultados: el efecto sedante del midazolam apareció al mismo tiempo y tuvo la misma duración, ndependientemente de la marca. El efecto tiende a ser más duradero con el innovador pero sin ser estadísticamente significativo (ANOVA, p ≤ 0.05. Asimismo, la mayoría de los animales llegaron al nivel 3 de sedación con ambas marcas.   Conclusión: tanto el midazolam innovador como el genérico tienen el mismo efecto sedante: aparece al mismo tiempo y tiene la misma duración.

  15. Resistência de genótipos de batata a Phthorimaea operculella (Zeller

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    Lopes Maria Teresa do Rêgo

    2001-01-01

    Full Text Available A traça Phthorimaea operculella (Zeller é considerada atualmente uma das principais pragas da batata. O uso de resistência varietal para controle desse inseto é uma alternativa promissora, mas que ainda precisa ser melhor pesquisada. A resistência de genótipos de batata à traça foi avaliada, em condições de laboratório, analisando-se o efeito de folhas e tubérculos sobre a biologia do inseto. Comparou-se também o desenvolvimento da traça em folhas de batata e tomate. Os experimentos foram conduzidos com os clones de batata NYL 235-4 e N 140-201 (ambos com tricomas glandulares tipo A nas folhas, as cultivares Aracy, Apuã e Itararé e a cultivar de tomate Santa Clara. Os insetos foram criados em folíolos e tubérculos dos genótipos, avaliando-se a duração e a viabilidade das fases larval e pupal e o peso de pupas. O desenvolvimento do inseto não foi afetado nas folhas dos genótipos de batata, mesmo nos materiais com tricomas glandulares. Entretanto, em folhas de tomate houve aumento do período larval e diminuição do peso de pupas, sendo este substrato menos favorável ao desenvolvimento da traça quando comparado às folhas de batata. Em testes com tubérculos, o clone NYL 235-4 apresentou resistência a P. operculella, provocando redução significativa na viabilidade larval e alongamento desta fase. O clone N 140-201 afetou o desenvolvimento do inseto de forma menos pronunciada, alongando a fase larval.

  16. Marcadores ancestrales culturales y genéticos: investigación de apellidos mapuche

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    Corach, Daniel

    2007-01-01

    Full Text Available Las comunidades aborígenes que habitan las regiones andinas se caracterizan por haber conservado elementos lingüísticos originarios en sus apellidos. Estos han sufrido procesos de “occidentalización”, manteniendo, no obstante, rasgos etnia-específicos. Tal situación permite disponer de un criterio simple para identificar con cierto grado de certeza la ancestralidad de un individuo. Con el objeto de evaluar el grado de correlación entre este marcador cultural y marcadores genéticos hemos llevado a cabo una investigación con individuos varones no relacionados provenientes de las provincias de Río Negro y Chubut (N=136. Los donantes se seleccionaron de acuerdo a la presencia de elementos lingüísticos Mapuche en sus apellidos e individuos con apellidos europeos. Se emplearon tres criterios de clasificación: apellidos, presencia del haplogrupo Q-M3 y presencia de Haplogrupos mitocondriales amerindios (ABCD. Los grupos clasificados de acuerdo con estos criterios fueron analizados mediante 15 STRs autosómicos y 9 Y-STRs. En ambas provincias más del 95% de los individuos portadores de apellidos Mapuche exhibían hgs matri y/o patrilineales amerindios. Por otro lado, en Río Negro y Chubut sólo 18 y 17%, respectivamente, no exhibieron ni apellidos ni marcadores genéticos asociables con ancestros amerindios; en éstos los hgmt más representados fueron H (6.5%, U5 (4.3% y K (2.8%, seguidos por T (1.4%, V (0.7%, X (0.7% y M (0.7%. También fue detectado el hg Africano en baja frecuencia (1.4%. Nuestros resultados confirman una correlación estrecha entre apellidos Mapuche y polimorfismos genéticos étnia-específicos.

  17. Towards an International Culture: Gen Y Students and SNS?

    Science.gov (United States)

    Lichy, Jessica

    2012-01-01

    This article reports the findings of a small-scale investigation into the Internet user behaviour of generation Y (Gen Y) students, with particular reference to social networking sites. The study adds to the literature on cross-cultural Internet user behaviour with specific reference to Gen Y and social networking. It compares how a cohort of…

  18. De compras por el supermercado genético

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    Singer, Peter

    2002-12-01

    Full Text Available Should we say that selective abortion is a “powerful message that we seek to eliminate future persons”? When deaf parents want to have a deaf children, Are they crazy? Are they advocates of a culture –the Deaf culture? If genetic engineering can give us health, intelligent, and athletic childrens, why say not to this advantages? The aim of this article is not to deal with all objections that could be urged against these options; the purpose is developing a clear understanding of the central values at stake.

    ¿Estamos eliminando una cultura, la de los sordos, cuando tratamos de evitar que nazcan niños sordos? El aborto terapéutico, ¿significa que, por ejemplo, creemos que las vidas de los afectados por síndrome de Down son vidas de menor valor que las vidas “normales”? Si se permitiera la manipulación genética de los embriones ¿sería poco ético encargar hijos guapos y altos? Este artículo no aporta respuestas a estas preguntas, pero sí que plantea los términos para dar cuenta de ellas y eleva acta de lo difícil que es dar una respuesta concluyente.

  19. Doping genético e possíveis metodologias de detecção

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    André Valle DE Bairros

    2011-12-01

    Full Text Available O doping genético caracteriza-se pelo uso não terapêutico de células, genes e elementos gênicos, ou a modulação da expressão gênica com objetivo de aumentar o desempenho esportivo. Isto somente pode ser realizado através de manipulação gênica. Esta prática dopante caracteriza-se como virtualmente "indetectável", o que representa novos desafios analíticos para sua detecção. Esta revisão apresenta o doping genético e possíveis métodos de detecção para evitar futuras fraudes desportivas.

  20. El polimorfismo (CAGn del gen ATXN2, nuevo marcador de susceptibilidad para diabetes mellitus tipo 2

    Directory of Open Access Journals (Sweden)

    Luis J. Flores-Alvarado

    Full Text Available RESUMEN Objetivo Estimar si hay asociación del repetido (CAGn del gen ATXN2 en población mexicana con diabetes mellitus (DM tipo 2. Métodos Estudio epidemiológico de casos y controles. Se incluyeron personas sanas y personas diabéticas. La detección de la expansión (CAGn se realizó por reacción en cadena de la polimerasa (PCR-punto final. Los productos de PCR se analizaron mediante electroforesis (PAGE al 8% y tinción con nitrato de plata. Resultados La distribución de alelos del trinucleótido (CAGn en la población analizada resultó similar a la reportada en el centro del país. El alelo más frecuente es el de 22 repetidos; sin embargo, hay asociación con los portadores de los repetidos largos dentro del rango normal con diabetes. Conclusiones Los resultados sugieren que el repetido (CAGn del gen de ATXN2 podría ser un factor causal de DM tipo 2.

  1. SE debt restructuring plan

    International Nuclear Information System (INIS)

    Janoska, J.

    2003-01-01

    Slovenske elektrarne, a.s. (SE) plans to restructure one's own debts in 2003-2005. Debt restructuring plan is following: 2003: Collection of pre-payment on electricity - 60 million Euro (2.5 billion Slovak crowns), consumer unknown. Own promissory notes in total value of 100 million US$ (3.5 billion Slovak crowns) - in process. Sale of claims worth 2.4 billion Slovak crowns (57.21 million Euro) - negotiations in process. 2003/2004: Restructuring of loans payable IV. quarter 2003 and at the beginning of 2004 in value of 200 million Euro (8.3 billion Slovak crowns). Aim of SE is a new credit payable within 7 years, with instalments payable in the last two to three without any state subsidies. 2005: Loans worth 460 million Euro (189 billion Slovak crowns) will still remain. SE want to negotiate them with banks without state support

  2. Detección de alteraciones numéricas en el gen dys y su asociación con rasgos clínicos Numeric alterations in the dys gene and their association with clinical features

    OpenAIRE

    Alejandra Mampel; María Inés Echeverría; Ana Lía Vargas; María Roque

    2011-01-01

    La distrofia muscular de Duchenne/Becker (DMD/B) es una miopatía hereditaria grave y progresiva. Se relaciona con alteraciones en el gen DYS, ubicado en el cromosoma X, que codifica para la proteína distrofina. Distintas manifestaciones pueden observarse según el impacto de la alteración genética sobre la proteína. Los registros internacionales de mutaciones refieren una elevada frecuencia (65-70%) de deleciones/duplicaciones de uno o más exones del gen DYS. En este trabajo presentamos el est...

  3. Autismos que se 'curan'

    OpenAIRE

    Artigas, Josep, 1948-; Paula Pérez, Isabel, 1970-

    2016-01-01

    Introducción. La investigación sobre el autismo, basada principalmente en el modelo categórico del Manual diagnóstico y estadístico de los trastornos mentales, se ha centrado de forma preferente en la epidemiología, las manifestaciones clínicas, los mecanismos cognitivos y los determinantes biológicos y ambientales; sin embargo, se ha prestado escaso interés a las trayectorias evolutivas, las cuales son decisivas de cara al pronóstico a medio y largo plazo. Objetivo. Revisar el curso evolutiv...

  4. Inicio de replicación y estabilidad genómica en Saccharomyces cerevisiae

    OpenAIRE

    Ayuda Durán, Pilar

    2014-01-01

    [ES]La levadura de gemación Saccharomyces cerevisiae constituye un buen sistema modelo para el estudio de los mecanismos que dirigen la replicación del material genético y controlan su estabilidad en organismos eucariotas. Utilizando este modelo se ha estudiado el efecto de la desregulación de actividad CDK durante la fase G1 del ciclo celular de esta levadura, a causa de la carencia de sus reguladores específicos (las proteínas Cdh1, Sic1 y el dominio N-terminal de la proteína Cdc6). L...

  5. Substrats biològics de la conducta agressiva: Genètica i Neuroanatomia

    OpenAIRE

    Martí Carbonell, Sunsi

    1984-01-01

    En este trabajo se exponen los resultados obtenidos por un gran número de investigadores que han intentado explicar cómo intervienen los diferentes substratos biológicos en la agresión. Nos hemos centrado aquí en los substratos genético y neuroanatómico, y en un trabajo posteirior expondremos los substratos neuroquímico y hormonal. This paper is a review of the works dailing with the biological substrate of aggression with special referece to genetic and neuroanatomical findings. In a next...

  6. Variabilidad genética en razas locales de frijol común de Honduras

    OpenAIRE

    Meza Linarez, Narcizo; Rosas Sotomayor, Juan Carlos; Ortiz Marcide, Jesus Maria; Martin Clemente, Juan Pedro

    2010-01-01

    Las regiones agroecológicas Centro-Oriental (Francisco Morazón y El Paraíso) y Nor-Oriental (Olancho) aportan el 52% de la producción de frijol común (Phaseolus vulgaris) en Honduras. En el presente estudio se ha analizado la variabilidad genética en 59 razas locales colectadas en los tres departamentos de las dos regiones agroecológicas mencionadas, mediante cuatro loci microsatélites previamente descritos en P. vulgaris. Los resultados obtenidos muestran la existencia de una gran variabilid...

  7. Identificación de un gen codificante de polifenol oxidasa (PPO en Theobroma cacao L. (cacao de Ecuador

    Directory of Open Access Journals (Sweden)

    Jaime Morante-Carriel

    2017-12-01

    Full Text Available En Ecuador, las plantaciones de cacao presentan bajos promedios de producción debido a la diversidad de patógenos, especialmente a la infección por Moniliophthora roreri (monilia. Se cree que existe una relación entre el ataque del hongo y el aumento de los niveles de expresión de genes codificantes de polifenol oxidasas (PPOs como mecanismo de defensa ante patógenos y herbívoros en diferentes plantas. Para la identificación de genes que codifican para PPOs, se seleccionaron hojas de cacao Nacional, provenientes de plantas resistentes y susceptibles a monilia, ubicadas en la Finca Experimental La Represa, propiedad de la Universidad Técnica Estatal de Quevedo. Se afinó un protocolo de extracción de ARN total de alta calidad para hojas de cacao recalcitrantes. Después de su retrotranscripción a ADNc, se realizaron ensayos de amplificación por PCR con diferentes primers, diseñados a partir de secuencias conservadas de PPOs. Los productos de amplificación permitieron la identificación de un gen de 961 pb, similar a un gen que codifica para la PPO predictiva de Theobroma cacao depositada en NCBI (XP_017978715.1 La identificación de este gen, es fundamental para evaluar a futuro los niveles de expresión y cuantificación en diferentes estados de desarrollo del fruto. Dicha cuantificación permitirá proponer herramientas de control para monilia y construir las bases para el mejoramiento genético del cacao Nacional.

  8. Caracterización clínica, bioquímica y de neuroimagen de la enfermedad de Parkinson asociada a mutaciones del gen LRRK2 y de su fase prodrómica

    OpenAIRE

    Vilas Rolán, Dolores

    2016-01-01

    La presente memoria se basa en cuatro trabajos que pertenecen a una misma línea de estudio: el estudio de la enfermedad de Parkinson asociada a mutaciones del gen LRRK2 (EP-LRRK2) . En primer lugar, se ha estudiado la EP-LRRK2 desde un punto de vista clínico, centrándonos en los síntomas no motores. En segundo lugar se ha realizado un estudio a través de la sonografía transcraneal en portadores de la mutación G2019S del gen LRRK2 , tanto pacientes con enfermedad de Parkinson como portadores a...

  9. Divergência genética em cultivares de morangueiro, baseada em caracteres morfoagronômicos

    Directory of Open Access Journals (Sweden)

    Rafael Gustavo Ferreira Morales

    2011-06-01

    Full Text Available Os caracteres morfoagronômicos são tradicionalmente usados na caracterização de cultivares e no estudo da divergência genética, contribuindo na definição de estratégias para o melhoramento genético. Este trabalho teve por objetivo avaliar a divergência genética por meio de caracteres morfoagronômicos de 11 cultivares de morangueiro (Aromas, Camarosa, Camino Real, Campinas, Diamante, Dover, Oso Grande, Sweet Charlie, Toyonoka, Tudla e Ventana, nas condições climáticas da região Centro-Sul do Paraná. Foram analisados 29 caracteres morfoagronômicos relacionados com a planta, folha, flor, fruto e aquênios do morangueiro. As similaridades genéticas foram calculadas por meio de análise multivariada e, os cultivares, agrupados com base na matriz de similaridade genética, usando-se UPGMA. Dentre os 29 caracteres morfoagronômicos avaliados, oito apresentaram diferenças não significativas (p < 0,05. A similaridade média foi de 38%, variando de 19 (aromas e camino real a 62% (Camino Real e Camarosa; Aromas e Sweet Charlie. O dendrograma alocou os cultivares em quatro grupos, contudo, essa divisão não foi coerente com a origem e genealogia dos cultivares. O cultivar Tudla apresenta elevado potencial "per se" para utilização em programas de melhoramento. O cruzamento mais promissor com base nos caracteres morfoagronômicos é entre os cultivares Camarosa e Campinas.

  10. Desempenho de genótipos de aveia branca em resposta ao estresse por alumínio

    Directory of Open Access Journals (Sweden)

    Solange Ferreira da Silveira Silveira

    2013-01-01

    Full Text Available A aveia branca (Avena sativa L. é uma cultura que tem um papel importante no sistema de produção de grãos e integração lavoura-pecuária, no entanto, em algumas regiões brasileiras, o pleno estabelecimento e desenvolvimento dessa cultura, bem como o aumento de produtividade são inviabilizados pelo excesso de alumínio (Al nos solos. A avaliação de caracteres de plântulas de aveia desenvolvidas sob cultivo hidropônico com adoção de solução nutritiva mínima pode ser eficiente para classificar genótipos sensíveis e tolerantes ao Al. Este trabalho objetivou avaliar o desempenho de 10 genótipos de aveia submetidos ao estresse por Al, baseando-se na análise da retomada do crescimento da raiz, com uso de solução mínima e identificando quais caracteres se mantêm correlacionados. Foram adotadas diferentes doses de Al (0, 3, 6, e 9 mg L-1 de Al. Com uso de solução mínima, a dose de 6 mg L-1 de Al é a mais adequada na diferenciação de genótipos sensíveis e tolerantes. Dentre os genótipos estudados, UFRGS 14, UFRGS 19 e URS Guapa são os mais tolerantes e UPFA 20, UPF 18 e IAC 7, os mais sensíveis ao Al. Com o objetivo de classificar genótipos de aveia entre sensíveis e tolerantes ao Al, nenhuma outra variável pode ser utilizada em substituição à retomada do crescimento da raiz.

  11. Factors Influencing Retention of Gen Y and Non-Gen Y Teachers Working at International Schools in Asia

    Science.gov (United States)

    Fong, Hoi Wah Benny

    2018-01-01

    Quantitative studies on international-school teacher retention are few, especially studies that differentiate between Gen Y and non-Gen Y teachers. This article reports on the findings of a study that examined the relationship of job satisfaction factors to the likelihood of contract renewal by international-school teachers. Results from the study…

  12. Área Clínica: Estudio Bioquímico y Genético de la Enfermedad Troboblástica Gestacional.

    Directory of Open Access Journals (Sweden)

    Antonio J. Bermúdez

    2006-03-01

    La presente investigación de enfoque multidisciplinario, presenta los resultados del estudio realizado en las ciudades de Bogotá y Zipaquirá donde se discuten aspectos socioculturales, clínicos, genéticos, bioquímicos y epidemiológicos de la mola hidatidiforme y las condiciones para su diagnóstico preciso...

  13. Jurados ciudadanos y organismos genéticamente modificados

    Directory of Open Access Journals (Sweden)

    Luque, Emilio

    2005-04-01

    Full Text Available Apolitical sociology of food must look into the processes whereby regulatory decisions on food are made, and also into the democratic potential of their alternatives. Five "experiments in democracy" are described, in which a promising deliberative device has been used: citizens' juries. Indian and Brazilian peasants, on the one hand, and British consumers in the other took part in them, and they focused on Genetically Modified Organisms. These processes, whose defining trait is granting jurors access to expert witnesses presented by all stakeholders in the controversy, show the impressive ability of ordinary citizens to articulate their analysis of complex issues, a reassessment of risks, and a recontextualization of the use of GMOs. At any rate, deliberative democracy is not a magic bullet for the epistemic and political crisis that underlies food crisis; instead, it points at a paradigm change towards an experimental democratic polity in which the instances of representation of the public and publics are multiplied.

    Una sociología política de la alimentación debe analizar los procesos a través de los cuales se alcanzan las decisiones de regulación y control alimentario y examinar el potencial de sus alternativas. Se describen aquí cinco experimentos democráticos en los que se ha empleado uno de los dispositivos deliberativos más prometedores en condiciones de alta complejidad cognitiva, los llamados jurados ciudadanos, con la participación de campesinos hindúes y brasileños y consumidores británicos, y centrados en los Organismos Genéticamente Modificados. Estos procesos, caracterizados por el acceso de los miembros del jurado a testigos expertos presentados por los distintos participantes en la controversia, muestran la enorme capacidad de los ciudadanos "de a pie" para articular el análisis de un problema complejo, reevaluar sus riesgos y recontextualizar el uso de los OGM. En todo caso, la democracia deliberativa no es

  14. Parâmetros de desempenho e carcaça de genótipos de frangos tipo caipira

    Directory of Open Access Journals (Sweden)

    R.C. Veloso

    2014-08-01

    Full Text Available Objetivou-se com este trabalho avaliar as características de desempenho e de carcaça de sete genótipos de frangos tipo caipira da linhagem Redbro. Foram utilizados 840 pintos de um dia, machos, distribuídos em delineamento inteiramente ao acaso, dos seguintes genótipos: Caboclo, Carijó, Colorpak, Gigante Negro, Pesadão Vermelho, Pescoço Pelado e Tricolor. Os frangos foram alojados em 28 boxes, sendo 30 frangos por boxe, em galpão de alvenaria com acesso a um piquete de 45m², em quatro repetições. As características de desempenho (conversão alimentar, ganho em peso médio diário, consumo de ração médio diário foram avaliadas nos períodos: um a 28, um a 56, um a 70 e um a 84 dias de idade. O peso corporal foi avaliado aos 28, 56, 70 e 84 dias de idade. As características de carcaça (peso e rendimento de carcaça, peito e pernas foram obtidas a partir do abate de dois frangos por boxe, aos 85 dias de idade. As análises estatísticas foram realizadas utilizando-se o "proc glm" do SAS. Verificou-se que, em todos os períodos, os frangos do genótipo Colorpak apresentaram maior peso corporal, consumo de ração médio diário, ganho em peso médio diário e melhor conversão alimentar. Entretanto, os genótipos Caboclo e Gigante Negro apresentaram menores consumo de ração médio diário, ganho de peso médio diário e pior conversão alimentar. Quanto ao rendimento de cortes, observou-se que os genótipos Caboclo e Gigante Negro apresentaram os menores valores, e o Carijó, Colorpak, Pesadão Vermelho, Pescoço Pelado e Tricolor obtiveram os melhores rendimentos de pernas. Para o rendimento de peito, o Carijó e o Pesadão Vermelho obtiveram os maiores valores. A escolha do genótipo deve ser feita de acordo com o interesse do mercado, pois há diferenças no desempenho e no rendimento de carcaça e dos cortes.

  15. Diversidad genética de Plasmodium falciparum y sus implicaciones en la epidemiología de la malaria.

    Directory of Open Access Journals (Sweden)

    Judy Natalia Jiménez

    2005-12-01

    Full Text Available La diversidad genética le confiere a Plasmodium falciparum la capacidad de evadir la respuesta inmune del hospedero y producir variantes resistentes a medicamentos y a vacunas, aspectos que juegan un papel importante en el establecimiento de medidas de control contra la malaria. Diferentes autores han documentado la existencia de diversas cepas o clones de P. falciparum, cuya diversidad genética se ha confirmado a través de distintos ensayos de PCR (reacción en cadena de la polimerasa. Numerosas investigaciones realizadas en poblaciones con diferente grado de transmisión de malaria han mostrado la relación existente entre la estructura de la población de P. falciparum y la epidemiología de la enfermedad. En este artículo se describen las fases del ciclo de vida en las que los eventos de recombinación originan la diversidad genética de P. falciparum, se revisan los estudios realizados sobre este aspecto en regiones con diferentes grados de endemicidad, así como sobre sus implicaciones en la adquisición de inmunidad y en el desarrollo de medidas de control.

  16. Análisis de la diversidad genética de una población de caballos Criollo Argentino mediante polimorfismos de nucleótido simple de los genes IL12B y TNF-α

    Directory of Open Access Journals (Sweden)

    Claudia Corbi Botto

    2016-12-01

    Full Text Available La caracterización de una población es el primer paso en el camino hacia su conservación y utilización. La raza Criollo Argentino es una de las referentes de la especie equina en Argentina y, por lo tanto, un patrimonio ganadero local que representa un recurso único en cuanto a la identidad y al sistema productivo del país. El objetivo de este trabajo fue analizar una población de caballos Criollo Argentino del norte de Argentina por medio de la caracterización de la variabilidad genética de cuatro marcadores moleculares del tipo single nucleotide polymorphism (SNP localizados en los genes que codifican para las citoquinas IL-12B y TNF-α. Se recolectaron muestras de 50 caballos Criollo Argentino y se extrajo ADN genómico que se utilizó para tipificar mediante PCR-Pirosecuenciación®, tres SNPs en el promotor del gen TNF-α y uno localizado en el exón 5 del gen IL-12B. Se estimaron frecuencias génicas y genotípicas, equilibrio de Hardy-Weinberg y diversidad genética. En IL-12B se detectaron dos alelos, mientras que en TNF-α se observaron 4 haplotipos, entre ellos uno no descripto hasta el momento en equinos. Los resultados muestran que la heterocigosis esperada fue superior en TNF-α (He=0,764 y la población se encuentra en equilibrio para el locus IL-12B (p-valor ≥0,05. Se destaca la importancia del caballo Criollo Argentino como acervo génico para el estudio de características genéticas y enfermedades de la especie equina.

  17. Heat and power from MicroGen

    Energy Technology Data Exchange (ETDEWEB)

    Anon.

    1999-10-01

    This paper reports on the design of a domestic gas-fired cogeneration system developed to replace the central heating boiler. Technical details of the MicroGen demonstration unit are given, and the use of a Linear Free Piston Stirling Engine as the prime mover, and the results of modelling studies of energy demand indicating cost savings compared to conventional boilers are discussed. The enhancement of the benefits of micro-cogeneration through use of thermal and power storage and energy demand management, and the impact of micro-cogeneration on energy use in the home are considered. The UK and European Commission's targets for increased cogeneration capacity are noted.

  18. NextGen Future Safety Assessment Game

    Science.gov (United States)

    Ancel, Ersin; Gheorghe, Adrian; Jones, Sharon Monica

    2011-01-01

    The successful implementation of the next generation infrastructure systems requires solid understanding of their technical, social, political and economic aspects along with their interactions. The lack of historical data that relate to the long-term planning of complex systems introduces unique challenges for decision makers and involved stakeholders which in turn result in unsustainable systems. Also, the need to understand the infrastructure at the societal level and capture the interaction between multiple stakeholders becomes important. This paper proposes a methodology in order to develop a holistic approach aiming to provide an alternative subject-matter expert (SME) elicitation and data collection method for future sociotechnical systems. The methodology is adapted to Next Generation Air Transportation System (NextGen) decision making environment in order to demonstrate the benefits of this holistic approach.

  19. The GenDev Curriculum Development Workshop.

    Science.gov (United States)

    D'cunha, J

    1997-01-01

    This article describes the second Curriculum Development Workshop held in May 1997 at the Asian Institute of Technology (AIT) in Bangkok, Thailand. The workshop aimed to review critically and restructure the Gender and Development Studies (GenDev) curriculum and to assess AIT's role in training gender experts for the region. Participants included 22 people from 16 countries in Asia, Europe, and the US who were teaching graduate students about gender issues and who were activists with nongovernmental organizations working on gender issues. It was determined that the following were required courses: Culture, Knowledge and Gender Relations; Gender, Technology, and Development; Principles of Gender Research and Methodology in Science and Technology; and Gender Analysis and Field Methods. Other suggested core courses included: Gender and Natural Resource Management; Enterprise Management, Technology, and Gender; Gender and Agrarian Reform; Urbanization: A Gender Perspective; Gender-Responsive Development Planning; and Gender and Economic Change: Past and Present Concerns. Participants distinguished between GenDev courses offered to anyone attending AIT and training courses designed to produce gender experts in the region. The aim of training courses for AIT graduate students was to sensitize potential managers, technologists, and others on gender issues and to create awareness of the importance of including gender perspectives within decision-making, policy formation, and implementation. Training courses to produce gender experts should be directed to those with a prior background in gender studies and include gender analysis in field methods. Participants agreed that there should be an independent and autonomous field of gender and development studies. Participants made six recommendations for such a field of study.

  20. ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

    Science.gov (United States)

    Di Martino, Julie; Ruiz, Mathias; Garin, Roman; Restier, Lioara; Belmalih, Abdelouahed; Marchal, Christelle; Cullin, Christophe; Arveiler, Benoit; Fergelot, Patricia; Gitler, Aaron D.; Lachaux, Alain; Couthouis, Julien

    2017-01-01

    Background The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. Methods We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease. Results Using yeast genetic screens, we identified HRD1, an Endoplasmic Reticulum Associated Degradation (ERAD) associated protein, as an inducer of Z-mediated toxicity. Whole exome sequencing of 1ATD patients resulted in the identification of two variants associated with liver damages in Z-1AT homozygous cases: HFE H63D and HERPUD1 R50H. Functional characterization in Z-1AT model cell lines demonstrated that impairment of the ERAD machinery combined with the HFE H63D variant expression decreased both cell proliferation and cell viability, while Unfolded Protein Response (UPR)-mediated cell death was hyperstimulated. Conclusion This powerful experimental pipeline allowed us to identify and functionally validate two genes involved in Z-1AT-mediated severe liver toxicity. This pilot study moves forward our understanding on genetic modifiers involved in 1ATD and highlights the UPR pathway as a target for the treatment of liver diseases associated with 1ATD. Finally, these findings support a larger scale screening for HERPUD1 R50H and HFE H63D variants in the sub-group of 1ATD patients developing significant chronic hepatic injuries (hepatomegaly, chronic cholestasis, elevated liver enzymes) and at risk developing liver cirrhosis. PMID:28617828

  1. The association between the C282Y and H63D polymorphisms of HFE gene and the risk of Parkinson's disease: A meta-analysis.

    Science.gov (United States)

    Xia, Jianjian; Xu, Huamin; Jiang, Hong; Xie, Junxia

    2015-05-19

    Impaired brain iron homeostasis has been considered as an important mechanism in Parkinson's diseases (PD). There are indications that C282Y and H63D polymorphisms of HFE genes involved in iron metabolism might contribute to the pathogenesis of PD in some cases. However, the investigation of the relationship between PD and the two polymorphisms had produced contradictory results. We performed a meta-analysis to assess the C282Y and H63D polymorphisms of HFE in PD susceptibility. PubMed, EMBASE and Web of Science were systematically searched to identify relevant researches. The strict selection criteria and exclusion standard were applied. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of associations. A fixed-effect or random-effect model was selected, depending on the results of the heterogeneity test. Fifteen studies were included in the meta-analysis (eight studies with 1631 cases and 4548 controls for C282Y; seven studies with 1192 cases and 4065 controls for H63D). For the C282Y polymorphism, significant associations were observed in the Recessive model (YY vs CY+CC: OR=0.22, 95% CI=0.09-0.57, P=0.002). This indicated that the C282Y polymorphism in HFE might be a potential protective factor for PD. However, no significant associations were found for any genetic model for the H63D polymorphism, suggesting that the H63D polymorphism might not be associated with PD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  2. [ALLELES C282Y AND H63D HFE GENE, INSULIN RESISTANCE AND SUSCEPTIBILITY TO DISTURBANCE OF PORPHYRIN METABOLISM IN NON-ALCOHOLIC FATTY LIVER DISEASE].

    Science.gov (United States)

    Krivosheev, A B; Maximov, V N; Voevoda, M I; Kuimov, A D; Kondratova, M A; Tuguleva, T A; Koval, O N; Bezrukova, A A; Bogorianova, P A; Rybina, O V

    2015-01-01

    The aim of the present work was to study the frequency of genotypes and alleles of C282Y and H63D HFE gene that may be associated with impaired porphyrin metabolism, as well as possible reasons for the formation of dysmetabolism porphyrins with NAFLD. The study involved 65 patients (52 men and 13 women) aged 21 to 69 years (mean age 48.5±1.5 years). Excretion uroporphyrin, coproporphyrin, 6-aminolevulinic acid of porphobilinogen in urine was determined by chromatography and spectrophotometry calculated total excretion of porphyrins. Allele frequencies C282Y and H63D were determined during the molecular genetic analysis of DNA using the polymerase chain reaction followed by analysis of length polymorphism restraktsionnyh fragments. Condition of carbohydrate metabolism was evaluated by the level of fasting blood glucose and standard glucose tolerance test. Diagnosis of insulin resistance was performed according to the criteria proposed by the European Group for the Study of insulin resistance (EGIR). Skill test for the C282Y mutation carriage and H63D in the HFE gene in 65 patients with non-alcoholic fatty liver disease. Disturbances in the metabolism of porphyrins were recorded in 43 (66.2%) patients. H63D and C282Y mutations were found in 18 (27.7%) patients, of whom 13 (72.2%) people with different options dismetabolism porphyrins and signs of insulin resistance. In 47 (72.3%) patients without mutations studied porphyrin metabolism disorders were detected in 30 (63.8 %), of which insulin resistance is registered only in 16 (34.0 %). Detection of mutations C282Y and H63D in the HFE gene in combination with disorders of porphyrin metabolism on the background of insulin resistance is likely to allow such patients considered as candidates for inclusion in the higher risk of formation of diabetes.

  3. Four variants in transferrin and HFE genes as potential markers of iron deficiency anaemia risk: an association study in menstruating women

    Directory of Open Access Journals (Sweden)

    Arroyo-Pardo Eduardo

    2011-10-01

    Full Text Available Abstract Background Iron deficiency anaemia is a worldwide health problem in which environmental, physiologic and genetic factors play important roles. The associations between iron status biomarkers and single nucleotide polymorphisms (SNPs known to be related to iron metabolism were studied in menstruating women. Methods A group of 270 Caucasian menstruating women, a population group at risk of iron deficiency anaemia, participated in the study. Haematological and biochemical parameters were analysed and 10 selected SNPs were genotyped by minisequencing assay. The associations between genetic and biochemical data were analysed by Bayesian Model Averaging (BMA test and decision trees. Dietary intake of a representative subgroup of these volunteers (n = 141 was assessed, and the relationship between nutrients and iron biomarkers was also determined by linear regression. Results Four variants, two in the transferrin gene (rs3811647, rs1799852 and two in the HFE gene (C282Y, H63D, explain 35% of the genetic variation or heritability of serum transferrin in menstruating women. The minor allele of rs3811647 was associated with higher serum transferrin levels and lower transferrin saturation, while the minor alleles of rs1799852 and the C282Y and H63D mutations of HFE were associated with lower serum transferrin levels. No association between nutrient intake and iron biomarkers was found. Conclusions In contrast to dietary intake, these four SNPs are strongly associated with serum transferrin. Carriers of the minor allele of rs3811647 present a reduction in iron transport to tissues, which might indicate higher iron deficiency anaemia risk, although the simultaneous presence of the minor allele of rs1799852 and HFE mutations appear to have compensatory effects. Therefore, it is suggested that these genetic variants might potentially be used as markers of iron deficiency anaemia risk.

  4. Diversidade genética de porta-enxertos cítricos baseada em marcadores moleculares RAPD

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    Schäfer Gilmar

    2004-01-01

    Full Text Available Este trabalho teve como objetivo caracterizar a diversidade genética, através do marcador molecular RAPD, dos porta-enxertos da Coleção de Citros da Estação Experimental Agronômica da Universidade Federal do Rio Grande do Sul (EEA/UFRGS e acessos de porta-enxertos cítricos coletados em viveiristas da Região do Vale do Rio Caí do estado do Rio Grande do Sul. Para tanto, coletaram-se folhas de nove porta-enxertos cítricos da EEA/UFRGS e de dez acessos de trifoliata (Poncirus trifoliata de viveiristas. Com o uso de nove seqüências inicializadoras, foi possível separar os porta-enxertos cítricos em dois grupos principais, um formado pelo limoeiro ?Cravo? e outro pelo trifoliata e seus híbridos, apresentando alta dissimilaridade genética entre os grupos. Marcadores moleculares RAPD foram eficientes para caracterizar variedades de porta-enxertos de citros e para separar o porta-enxerto P. trifoliata de seus híbridos podendo serem utilizados para caracterização de plantas matrizes, análise de variabilidade genética entre genitores em programas de melhoramento genético de porta-enxertos e para identificar a origem sexual ou nucelar de mudas de trifoliata em viveiros comerciais.

  5. Extrato aquoso de ramos de Trichilia pallida e o desenvolvimento de Spodoptera frugiperda em genótipos de milho

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    Torrecillas Sônia Martins

    2001-01-01

    Full Text Available Avaliaram-se o desenvolvimento e a sobrevivência da lagarta-do-cartucho, Spodoptera frugiperda (J. E. Smith criada em folhas de dois genótipos de milho (o padrão comercial C 901 e o resistente CMS 23 tratados com extratos aquosos (0,1 e 1% de ramos da planta inseticida Trichilia pallida Swartz (Meliaceae. As variáveis biológicas avaliadas foram peso, duração e viabilidade das fases larval e pupal. Em plantas tratadas com o extrato a 1%, ocorreu mortalidade total das lagartas nos dois genótipos, enquanto que a 0,1% o extrato reduziu a sobrevivência e o peso larval e prolongou o período de desenvolvimento. Lagartas alimentadas com o genótipo CMS 23 apresentaram menor sobrevivência, menor peso e maior período de desenvolvimento do que no genótipo C 901.

  6. Variabilidade genética da produção anual da seringueira: estimativas de parâmetros genéticos e estudo de interação genótipo x ambiente Genetic variability of rubber tree annual yielding: estimates of genetic parameters and study of genotype x environment interaction

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    Paulo de Souza Gonçalves

    1990-01-01

    Full Text Available Selecionaram-se dezenove genótipos de seringueira (Hevea brasiliensis Muell. Arg. considerados como os melhores em vigor e produção em uma população de pés francos estabelecidos no campo de ensaios da Estação Experimental de Pindorama, com o objetivo de estudar a variabilidade genética e ambiental e a interação genótipo x ambiente sobre a produção durante cinco anos. Com base na análise da variância anual e conjunta, estimaram-se parâmetros genéticos para produção, na tentativa de quantificar o ganho genético com a seleção, e as correlações genéticas e fenotfpicas das produções ano a ano. Os resultados das análises da variância dentro de anos mostraram efeitos significativos para genótipos, sendo os efeitos da interação genótipo x ambiente altamente significativos. As estimativas de herdabilídade, no sentido amplo, ao nível de médias de parcelas, foram altas, com amplitude de 0,57 a 0,77, respectivamente, para o segundo e quinto ano de produção. As maiores percentagens de ganho genético foram obtidas no primeiro e quinto ano de produção, 39,03 e 27,57 respectivamente. Correlações genéticas e fenotípicas entre anos de sangria foram altas e significativas. Os altos valores de herdabilidade e ganho genético para o primeiro ano de sangria indicam que a seleção massal conduzida nesta fase proporciona, efetivamente, maior ganho na seleção.Nineteen rubber trees (Hevea brasiliensis Muell. Arg. considered as the best in growth and yield performance, were selected from a mature seedling population in the experimental field at the Pindorama Experiment Station of the "Instituto Agronômico de Campinas", São Paulo State, Brazil. Studies were carried out aiming to assess the annual environmental influence on genetic variation in five years of yielding. Components of variance were estimated from these analyses in an attempt to quantify genotype x environment interactions. The results of the analysis of

  7. Metode Transfer Asam Nukleat sebagai Dasar Terapi Gen

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    Novi Silvia Hardiany

    2017-01-01

    Full Text Available Kemajuan ilmu biologi molekuler memberikan manfaat dalam bidang kedokteran untuk mengembangkanterapi gen. Tujuan terapi gen adalah untuk memperbaiki kerusakan gen atau mengganti gen yang rusakdengan gen yang normal. Pemindahan gen dilakukan dengan teknik transfeksi. Transfeksi merupakanproses pemindahan asam nukleat baik menggunakan vektor virus (transduksi atau menggunakan metodenonviral yaitu zat kimia, lipid dan metode fisik. Vektor virus yang digunakan pada transduksi adalahretrovirus, adenovirus, adeno-associated virus (AAV dan herpes simplex virus (HSV. Keberhasilantransfeksi ditentukan oleh berbagai faktor yang dapat dapat dinilai dengan menggunakan reporter sepertigreen fluorescence protein (GFP. Kata Kunci: terapi gen, transfeksi non viral, transduksi, vektor virus   Methods of Nucleic Acid Transfer as Basic Gene Therapy Abstract The advancement of molecular biology provides benefit in the field of medicine to develop genetherapy. The aim of gene therapy is to repair the genetic damage or to replace damaged gene with thenormal gene. Delivery of gene is carried out by transfection technique, a technique to transfer nucleic acidinto eukaryote cells either using viral vectors (known as transduction, and also using non viral methodsuch as chemical substance, lipid and physical method. Some of the viral vectors used in the transductionare retrovirus, adenovirus, Adeno-associated virus (AAV and Herpes Simplex Virus (HSV. The success oftransfection is determined by various factors which can be assessed using several reporters such as GreenFluorescence Protein (GFP. Key words: gene therapy, non viral transfection, transduction, viral vector. Normal 0 false false false IN X-NONE X-NONE

  8. Se comunican los investigadores

    OpenAIRE

    Rafael Roncagliolo

    2015-01-01

    En Brasil se reunieron los investigadores de la comunicación de América Latina y del mundo (1992) El encuentro Latinoamericano fue en Embú-Guacú, poblado de la periferia de Sao Paulo, y el encuentro Mundial en Guarujá, balneario cercano al Puerto de Santos. La amplitud de la participación y la diversidad de temas y enfoques son indicios del desarrollo y dinamismo de la profesión.

  9. Se comunican los investigadores

    Directory of Open Access Journals (Sweden)

    Rafael Roncagliolo

    2015-01-01

    Full Text Available En Brasil se reunieron los investigadores de la comunicación de América Latina y del mundo (1992 El encuentro Latinoamericano fue en Embú-Guacú, poblado de la periferia de Sao Paulo, y el encuentro Mundial en Guarujá, balneario cercano al Puerto de Santos. La amplitud de la participación y la diversidad de temas y enfoques son indicios del desarrollo y dinamismo de la profesión.

  10. Asociación entre el polimorfismo genético de la apolipoproteína E (ApoE y la enfermedad de Parkinson

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    Victoria Marca

    2013-07-01

    Full Text Available Introducción: En nuestro país, con el incremento en la esperanza de vida, existe una tendencia creciente de enfermedades neurodegenerativas, por lo que se hace necesario realizar estudios sobre factores de riesgo genético en personas afectadas con la enfermedad de Parkinson (EP, entre ellos el gen de la apolipoproteína E (ApoE, ya que esta asociación es desconocida en nuestra población. Objetivo: Determinar la asociación del polimorfismo en el gen ApoE con la EP. Diseño: Estudio asociativo, observacional tipo casos y controles. Lugar: Instituto Nacional de Ciencias Neurológicas, Lima, Perú. Participantes: Personas de ambos sexos, 163 pacientes con la EP y 176 controles. Intervenciones: Extracción de ADN genómico según metodología estándar. Análisis del gen APOE mediante técnica PCR-RFLP. Principales medidas de resultados: Frecuencias genotípicas y alélicas del gen ApoE en los casos y controles, medidas de asociación y de riesgo. Resultados: No se encontró diferencias significativas entre el grupo control y los pacientes según genotipo de ApoE. La frecuencia del alelo ε4 fue similar en pacientes y en controles. El odds ratio para el alelo ε4 de la ApoE fue 1,0852 (IC 95%: 0,5812 a 2,0266. La edad de inicio de la EP no tuvo relaciσn con los genotipos ApoE. Conclusiones: El alelo ε4 de la ApoE no podrνa ser considerado un factor de riesgo para la EP, y los genotipos de la ApoE no se asociaron con la edad de inicio en esta muestra evaluada.

  11. Resistência de genótipos de caupi ao caruncho

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    BARRETO PAULO DIÓGENES

    2000-01-01

    Full Text Available A utilização de resistência genética ao ataque de Callosobruchus maculatus (Fabr. tem sido alvo de investigação científica, especialmente no que diz respeito à identificação de fontes de resistência. O presente trabalho objetivou incorporar, ao grupo de caracteres desejáveis para o cultivo de caupi (Vigna unguiculata (L. Walp., resistência genética ao caruncho (C. maculatus. Foram realizadas hibridações dos genótipos IT81D-1045 e IT81D-1064 (portadores de resistência ao inseto com CNCx 252-1E/FB, CNCx 187-22D-1 e BR 1-Poty (capazes de transferir resistência a viroses, tolerância à seca, formação de grãos com padrão comercial, elevado potencial de produção e adaptabilidade a diferentes condições ambientais. Populações segregantes obtidas destes cruzamentos foram conduzidas pelo método SPD (descendência de uma única vagem, e na geração F5 foram realizadas seleções individuais. As linhagens obtidas foram avaliadas em conjunto com materiais de origens diferentes, utilizando-se parâmetros associados à infestação da praga. Foi constatado que os genótipos avaliados apresentaram variabilidade quanto à preferência à postura, número de insetos emergidos e número de sementes danificadas; as linhas EVx 37-15E e EVx 37-2E foram as que sofreram menor dano causado pelo caruncho; as variáveis número de ovos, número de insetos emergidos e número de sementes danificadas mostraram-se positiva e significativamente correlacionadas entre si; o grupo das linhagens que descendem de genitores resistentes apresenta valores significativamente inferiores aos obtidos pelas demais, o que indica que a resistência ao inseto se transmite geneticamente.

  12. Diversidad genética, entre y dentro de los mayores grupos humanos

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    Barbujani, G.

    2003-01-01

    Full Text Available Varios estudios están de acuerdo cuando reportan que cerca del 85% de la diversidad del ADN autosomal y de los loci de las proteínas se debe a diferencias entre individuos dentro de la misma población, mientras que las diferencias entre los grupos de diferentes continentes son responsables de solamente 10% de la variación genética total. Estos resultados están en conflicto con nociones populares de razas humanas claramente distintas y relativamente homogéneas, y nos hacen cuestionar la utilidad de clasificaciones étnicas en diagnósticos médicos, en el campo forense y en genética farmacológica. Nuevos datos obtenidos de inserciones polimórficas de Alu y del cromosoma Y confirman los resultados previos, aunque indican una diversidad mayor en algunos (pero no todos los loci del cromosoma Y. Estos datos nos permiten investigar dos preguntas: (1 si las diferencias continentales, aunque pequeñas, son suficientemente grandes como para asignar a individuos a sus continentes basados en sus genotipos; (2 si los genotipos observados se agrupan en grupos de población o continentales cuando el origen de la muestra se ignora. Usando varios métodos estadísticos, veremos que los errores de clasificación son por lo menos de un 30% para los polimorfismos autosomales bi-alélicos, y de un 27% para el cromosoma Y. Cuatro series de datos genéticos de todo el mundo sugieren la existencia de grupos de genotipos diferentes, pero que éstos cuatro grupos no coinciden el uno con el otro. Adicionalmente, estudios de bloques de ADN del genoma humano indican que la mayor parte de dichos bloques es compartida entre los continentes, con solamente un pequeño porcentaje siendo específico a ciertos continentes. Estos resultados no indican que haya una base clara para subdividir a los humanos en grupos biológicamente definidos. Este puede no ser un problema en áreas aplicadas de genéticas, dado que los métodos rápidos para obtener genotipos individuales

  13. Modelo poblacional con algoritmos genéticos

    OpenAIRE

    Veliz Quintero, Eduardo; Rodriguez Ojeda, Luis

    2009-01-01

    Para el desarrollo de este trabajo, “MODELO POBLACIONAL CON ALGORITMOS GENÉTICOS”, he investigado la rama de la inteligencia artificial, como son los algoritmos genéticos. Primero presento en forma general los aspectos que envuelven los algoritmos genéticos, parto de la necesidad de optimizar, así como su historia y posibles aplicaciones y luego he cubierto detalladamente todo lo que pude investigar sobre la teoría de los algoritmos genéticos, sus fundamentos matemáticos, tipos de algoritmos ...

  14. Sobre el significado del descubrimiento del gen FOXP2

    OpenAIRE

    Longa Martínez, Víctor Manuel

    2006-01-01

    El reciente descubrimiento del gen FOXP2 ha ofrecido la primera evidencia clara de la base genética del lenguaje, mostrando una correlación inequívoca desde la perspectiva genética entre una versión mutada de F0XP2 y los trastornos lingüísticos de diferente tipo sufridos por una familia inglesa, conocida como KE. El objetivo central del presente trabajo es discutir diferentes aspectos relacionados con tal descubrimiento; especialmente, la discusión del significado de FOXP2 con ...

  15. Resistencia a los antibióticos beta-lactámicos Carbapenems mediada por el gen blaKPC en Klebsiella pneumoniae

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    Aura Dayana del Carmen Falco Restrepo

    2015-12-01

    Full Text Available  Los carbapenems son antibióticos â-lactamicos de amplio espectro que se utilizan como terapia de primera línea para tratar pacientes con infecciones graves. Actualmente, la resistencia a carbapenems se asocia con la presencia de â-lactamasas capaces de hidrolizar estos antibióticos. La carbapenemasa de clase A más común es KPC, la cual es codificada por el gen blaKPC que generalmente, se encuentra ubicado en plásmidos. La selección y la rápida propagación de aislados de Klebsiella pneumoniae portadores de estas carbapenemasas se ha convertido en un problema de salud pública a nivel mundial. Esta mini-revision describe uno de los mecanismos más frecuentes de resistencia a carbapenems como lo son las enzimas carbapenemasas tipo KPC. Además se describen las variantes del gen blaKPC asi como el elemento genético móvil, el transposon Tn4401, el principal responsable de su diseminación entre géneros y especies bacterianas diferentes. Finalmente se hace una pequeña revisión cronológica de los reportes de la enzima KPC a nivel mundial.

  16. Ausencia de equivalencia terapéutica de 7 productos genéricos de lincomicina comparados con el compuesto original

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    Omar Vesga

    2004-02-01

    Full Text Available

    La equivalencia farmacéutica (EF como prueba de equivalencia terapéutica (ET para productos genéricos parenterales (PG es un dogma ampliamente difundido y aceptado, pero nunca se ha retado experimentalmente [1]. Comparamos la magnitud de los parámetros farmacodinámicos (PD de los genéricos de lincomicina (LIN con los del compuesto original (CO, mediante determinación de su eficacia bactericida in vitro e in vivo.

     

     

  17. Diversidad genética de Dioscorea trifida “sachapapa” de cinco cuencas hidrográficas de la amazonía peruana

    OpenAIRE

    Jhonatan Pérez Arévalo; Roberson Ramírez Saavedra; Pedro Adrianzen Julca; Marianela Cobos Ruiz; Juan Castro Gómez

    2013-01-01

    Dioscorea trifida “sachapapa” es una de las especies promisorias amazónicas que podemos considerarla huérfana de la ciencia, por las escasas investigaciones que hay sobre esta especie. El objetivo de esta investigación fue determinar la diversidad genética intra e interpoblacional de D. trifida de cinco cuencas hidrográficas de la amazonía peruana. Las hojas fueron colectadas de una colección de germoplasma y purificó el ADN con métodos estándares. El polimorfismo genético se evaluó con la té...

  18. Detección de interacciones genéticas asociadas a enfermedades complejas. Aplicación al cáncer de vejiga

    OpenAIRE

    Urrea Gales, Víctor

    2009-01-01

    El proyecto en el que he participado se engloba dentro del Estudio Español de Cáncer de Vejiga/EPICURO, que comenzó en 1997 con el propósito de avanzar en el conocimiento de este cáncer respecto a las causas genéticas y ambientales, prevención, prognosis y tratamiento, y que aglutina esfuerzos de distintos grupos de nvestigación. El proyecto está coordinado por Núria Malats, jefa del Grupo de Epidemiología Genética y Molecular del CNIO (Centro Nacional de Investigaciones Oncológicas)...

  19. Nociones de bioquímica y genética útiles para los profesionales de la información del sector de la salud

    OpenAIRE

    Cañedo Andalia, Rubén; Guerrero Pupo, Julio C

    2005-01-01

    Con el objetivo de contribuir a la creación de una cultura básica sobre ciertos temas esenciales para la labor de los profesionales de la información en los nuevos entornos de la medicina moderna, se tratan algunos conceptos y definiciones esenciales útiles para comprender los avances de la bioquímica y la genética modernas. La introducción de estas nociones en el vocabulario de uso frecuente de estos profesionales facilitará su acercamiento al entorno genómico de la nueva medicina clínica. ...

  20. Algoritmo genético permutacional para el despliegue y la planificación de sistemas de tiempo real distribuidos

    OpenAIRE

    Azketa, Ekain; Gutiérrez, J. Javier; Di Natale, Marco; Almeida, Luís; Marcos, Marga

    2013-01-01

    Resumen: El despliegue y la planificación de tareas y mensajes en sistemas de tiempo real distribuidos son problemas NP-difíciles (NP- hard), por lo que no existen métodos óptimos para solucionarlos en tiempo polinómico. En consecuencia, estos problemas son adecuados para abordarse mediante algoritmos genéricos de búsqueda y optimización. En este artículo se propone un algoritmo genético multiobjetivo basado en una codificación permutacional de las soluciones para abordar el despli...

  1. Diversidad genómica de aislamientos del virus del papiloma humano de los tipos 16, 18, 31 y 35, en una población mexicana

    OpenAIRE

    CALLEJA M., ITZEL E.; KALANTARI, MINA; HUH, JOHN; ORTIZ L., ROCÍO; ROJAS M., AUGUSTO; GONZÁLEZ G., JUAN F.; W., ANNA-LISE; HAGMAR, BJÓRN; WILEY, DOROTHY J.; VILLARREAL, LUIS; BERNARD, HANS-ULRICH; BARRERA S., HUGO A.

    2004-01-01

    Analizamos secuencias genÛmicas de variantes mexi- canas del HPV-16, 18, 31 y 35. Entre 112 muestras HPV-16 se detectaron catorce variantes E y 98 AA. Entre 15 muestras HPV-18, trece E y dos africanas. Se construyeron árboles filogenÈticos con las varian- tes del HPV-31 y 35. En 46 asilados HPV-31 se detectaron 35 cambios nucleotÌdicos. En 27 muestras HPV-35 se detectaron once mutaciones. La alta prevalencia de las variantes carcinogÈnicas AA del HPV- 16 y la extensiva diversidad de las varia...

  2. Refuerzo de puentes por cambio de esquema estructural: optimización mediante algoritmo genético

    OpenAIRE

    Valenzuela, Matías A.; Casas Rius, Joan Ramon

    2011-01-01

    La presente comunicación entrega un estudio detallado del proceso constructivo y de tesado para el refuerzo de puentes con tipología longitudinal de vigas continuas convirtiéndolos en puentes en arco atirantado (tipo network). Se presentan las etapas básicas propuestas en aspectos de construcción, se establecen las hipótesis del estudio de tesado e implementa el método de tesado a partir de la optimización automatizada mediante algoritmos genéticos, definiendo criterios como: variables de ...

  3. Modelo origen destino para estimar el flujo de tráfico usando algoritmos genéticos

    OpenAIRE

    Aldás S., Milton R.; Flores C., Marco J.; Universidad de Cuenca; Dirección de Investigación de la Universidad de Cuenca; DIUC

    2014-01-01

    En este trabajo se ha desarrollado un nuevo método basado en Inteligencia Artificial para resolver un problema del matriz origen-destino (O-D) aplicado al caso de una red de tráfico vehicular en la ciudad de Ambato. El método implementado, basado en algoritmos genéticos (AG), resuelve el problema de minimización asociado al problema de matriz O-D. Para validar la técnica, se ha utilizado una red vial correspondiente a la zona del Mercado Modelo en la ciudad de Ambato, que es una zona de alta ...

  4. Picarola margalefii, gen. et sp. nov., a new planktonic coccolithophore from NW Mediterranean waters

    OpenAIRE

    Lluïsa Cros; Marta Estrada

    2004-01-01

    [ES] Un cocolitóforo atribuido a un género nuevo, Picarola gen. nov., y descrito como una especie nueva, Picarola margalefii, sp. nov., ha sido hallado en el Mediterráneo noroccidental. La descripción de la nueva especie se basa en observaciones realizadas con Microscopía Electrónica de Barrido. Los cocolitos de Picarola margalefii sp. nov. son murolitos que tienen un margen alto y estrecho y un área central que presenta una cruz con un largo proceso central de cuatro caras. Se confirmó su na...

  5. Alteraciones genéticas cutáneas diagnosticadas en la infancia, Las Tunas 2010-2012

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    Yordania Velázquez Ávila

    2014-08-01

    Full Text Available Las enfermedades genéticas y los defectos genéticos con afectación cutánea son causa frecuente de estigmatización de las personas que las padecen, afectando su adecuada inserción en la sociedad y con ello su calidad de vida. Se estableció una consulta especializada y multidisplinaria en el hospital pediátrico provincial “Mártires de Las Tunas”, fundamentalmente con especialistas de dermatología, genética y pediatría. Se realizó un estudio descriptivo, transversal y prospectivo, en el período del año 2010 al 2012, para caracterizar a estos pacientes. Las variables estudiadas relacionadas fueron el sexo, la edad biológica al diagnóstico, el municipio de procedencia y la mortalidad. Los resultados se expusieron en tablas de contingencia de N x N. Existió predominio de las genodermatosis, seguido de los defectos congénitos y pocas enfermedades genéticas con afectación cutánea, siendo estas últimas responsables de la mayoría de las muertes. Las genodermatosis más representadas fueron la ictiosis, las mastocitosis y las neurofibromatosis, la edad más frecuente al diagnóstico fue el grupo de los menores de dos años; prevaleció el sexo femenino. La mortalidad fue baja y los municipios más afectados por genodermatosis fueron Las Tunas, Majibacoa y Colombia

  6. Intención de compra de medicamentos genéricos por parte de los usuarios de Asturias

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    González Hernando Santiago

    2003-01-01

    Full Text Available Fundamento: Conocer las percepciones de los consumidores acerca del riesgo asociado al uso de medicamentos genéricos y los factores que más influyen en la intención de solicitar un genérico al médico (prescriptor y/o al farmacéutico, a fin de determinar posibles barreras o frenos a la aceptación de los mismos y obtener información que apoye la toma de decisiones de los gestores sanitarios. Métodos: Estudio sobre utilización de medicamentos centrado en la disposición de los pacientes a solicitar una EFG. En esta investigación transversal cuantitativa se entrevistó personalmente a 542 individuos, a la salida de un centro de salud o de un establecimiento de farmacia en Asturias. En el cuestionario se incluía una escala de medición del riesgo percibido en la compra de un medicamento con 15 atributos agrupados en cinco dimensiones. Asimismo se recogió información sobre la intención de consumir medicamentos genéricos y sobre las características demográficas y socioeconómicas de los entrevistados. Para el análisis de los resultados se aplicaron un análisis factorial confirmatorio, regresión múltiple y análisis univariable. El tratamiento de los datos se efectuó con los programas estadísticos EQS y SPSS. Resultados: Percepción media del riesgo (escalas de 1 a 7: funcional: 2,75; físico: 2,68; financiero: 2,19; psicológico: 1,99; social: 1,42. Factores influyentes sobre la intención de solicitar genéricos al médico: riesgo psicológico (p=0,000. Sobre la solicitud al farmacéutico: riesgo psicológico (p=0,000 y riesgo social (p=0,020. Conclusiones: Los agentes interesados en el desarrollo en el mercado de las EFG deben mantener sus esfuerzos de comunicación hacia la equiparación de los aspectos funcionales y financieros entre especialidades del fabricante y especialidades genéricas, pero no deben dejar de lado aspectos psicológicos y sociales del comportamiento de compra del consumidor.

  7. Genetic diversity in maize genotypes with and without a topdressing of nitrogen fertilizer = Divergência genética de genótipos de milho com e sem adubação nitrogenada em cobertura

    Directory of Open Access Journals (Sweden)

    Karen Cristina Leite Silva

    2015-06-01

    Full Text Available The use of genetic diversity as a basis for identifying combinations which are superior to the parents, with a greater heterozygosity, is important in view of the difficulty when selecting promising genotypes for a breeding program. Given the above, the aim of this work was to evaluate genetic diversity in maize genotypes with and without a topdressing of nitrogen fertiliser, using characteristics of the growth stage of the crop. Two field experiments were carried out in Gurupi, in the south of the state of Tocantins, Brazil (TO, one with and another without a topdressing of N fertilizer (1 - no N topdressing, 2 - 150 kg N ha-1. The treatments consisted of 12 genotypes (six open-pollinated populations, and six S5 strains. In applying the technique of clustering to the genotypes, the Generalised Mahalanobis Distance (D2 was adopted as dissimilarity measure. To establish similar groups, the agglomerative hierarchical method of optimisation proposed by Tocher was applied. In addition, Singh’s criterion was used to quantify the relative contribution to genetic divergence of the characteristics under evaluation. The characteristics, Chlorophyll-a and total chlorophyll, displayed the greatest contribution to genetic divergence, when there was no topdressing of nitrogen fertiliser and with the use of 150 kg N ha-1 respectively. A topdressing of nitrogen influenced both the vegetative development of the genotypes, and the expression of their genetic variability. = A utilização da divergência genética como base para a identificação de combinações superiores aos progenitores, apresentando maior heterozigose, faz-se importante diante da dificuldade de escolha de genótipos promissores em um programa de melhoramento. Com base no exposto, objetivou-se com este trabalho avaliar a divergência genética de genótipos de milho com e sem adubação nitrogenada em cobertura, utilizando características do estágio vegetativo da cultura, no sul do Estado

  8. Historia del nombre genérico Escallonia mutis ex L. Fil. Historia del nombre genérico Escallonia mutis ex L. Fil.

    Directory of Open Access Journals (Sweden)

    Fernández Alonso J. L.

    1991-06-01

    Full Text Available According with the historical context of the Real Expedición Botánica del Nuevo Reino de Granada (1783-1816, the nomenclatural history of the generic name Escallonia Mutis ex L. fiI. (Grossulariaceae is discussed. The extant misinterpretation concerning the name in the manuscript documentation of the Expedition, is brigthened; four species of diferent  families appear associated to this name in the manuscripts. Type specimens of two species, Escallonia myrtilloides L. fiI. and Dichondra evolvulacea (L. fiI. Britton are located or selected. Dentro del contexto histórico de la Real Expedición Botánica del Nuevo Reino de Granada (1783-1816, se realiza el seguimiento del nombre genérico Escallonia Mutis ex L. fiI. (Grossulariaceae. Se aclara la confusión existente acerca de este nombre en la documentación manuscrita de la Expedición (Archivos de Mutis y Linneo, donde se encuentra asociado a descripciones originales de cuatro especies de diferentes familias. Se localiza y selecciona material tipo de dos de ellas: Escallonia myrtilloides L. fil. Y Dichondra evolvulacea (L. IiI. Britton.

  9. Genética molecular: avanços e problemas

    Directory of Open Access Journals (Sweden)

    Garcia Eloi S.

    1996-01-01

    Full Text Available Este artigo traz a discussão sobre genética molecular em saúde ao campo da saúde pública. Com a revolução produzida pela chegada da engenharia genética, é importante discutir alguns dos avanços e problemas desta tecnologia para a sociedade. Está na hora de se fazer uma avaliação clara e bem informada acerca do que já se conseguiu e do que ainda podemos conseguir através desta tecnologia. A sociedade precisa compreender as implicações éticas e práticas de uma tecnologia capaz de produzir drogas milagrosas, dagnósticos modernos e a cura de todas as doenças. Alguns pontos particularmente delicados pertinentes às questões sociais ligadas à biologia molecular e ao projeto genoma humano são discutidos.

  10. Estudio de bioequivalencia del ibuprofeno genérico 400mg tabletas

    Directory of Open Access Journals (Sweden)

    Ofelia Villalva-Rojas

    2007-10-01

    Full Text Available Objetivo. Determinar la biodisponibilidad de dos formulaciones de ibuprofeno 400mg tabletas, para establecer si el medicamento multifuente (genérico es bioequivalente al de referencia (Motrin® 400mg. Materiales y métodos. Se diseñó un estudio abierto, randomizado, cruzado, dos periodos, con siete días de lavado, con 12 voluntarios sanos de ambos sexos, entre 21 y 48 años, quienes ingirieron una tableta del medicamento genérico o de referencia, según randomización, con 200mL de agua. Luego de ingerir el medicamento se colectó 4mL de sangre por voluntario para la cuantificación plasmática de ibuprofeno. Las muestras de plasma se analizaron por cromatografía líquida acoplada al espectrofotómetro de masas (LC-MS/MS con ionización electrospray ión negativo, aplicando monitoreo de reacción selectiva. La bioequivalencia se determinó con los parámetros farmacocinéticos de área bajo la curva AUC(0-t, AUC(0-∞ y concentración máxima (Cmax. Resultados. Según análisis estadístico, se encontraron: AUCmultifuente(0-t = 86,85 (μg*h/ mL, AUCRef.(0-t= 81,20 (μg*h/mL, AUCmultifuente(0-∞= 88,67 (μg*h/mL, AUCRef.(0-∞= 82,83(μg*h/mL, Cmαxmultifuente = 17,70 ug/mL, CmαxRef. =18,09 μg/mL, con rango de 0,93-1,24 para AUC(0-t, 0,93-1,24 para AUC(0-∞ y 0,81-1,19 para Cmax. Conclusión. Los valores encontrados de ibuprofeno están dentro de los requisitos de la OMS y la FDA, para establecer bioequivalencia (0,80-1,25, demostrándose que el ibuprofeno genérico es bioequivalente al de referencia en velocidad y cantidad de ibuprofeno absorbido en el organismo.

  11. Organismos modificados genéticamente: una nueva amenaza para la seguridad alimentaria

    Directory of Open Access Journals (Sweden)

    Liliane Spendeler

    2005-01-01

    Full Text Available Este artículo analiza todos los aspectos referentes a la seguridad alimentaria relacionados con la introducción de los organismos modificados genéticamente en la agricultura y la alimentación. Se discuten las incertidumbres asociadas a la inserción de genes extra- ños en organismos, facilitando ejemplos de efectos imprevistos e indeseados y de inestabilidades de los organismos así fabricados artificialmente. Luego se aportan datos tanto de agencias oficiales como de la literatura existente, que cuestionan la seriedad y fiabilidad de los análisis de riesgo sobre la inocuidad para la salud de estos organismos y se discute la falta casi absoluta de estudios científicos que analicen la seguridad/peligrosidad de los alimentos transgénicos para la salud. Dadas todas estas incógnitas, se tienen que tomar en cuenta otros factores, en particular la contaminación genética de los cultivos no modificados genéticamente, que empieza a ser generalizada en algunas partes del mundo. No poder dar marcha atrás en caso de problemas resulta irresponsable. Otros elementos importantes son los impactos sobre el medio ambiente (como la aparición de resistencias en insectos, la pérdida de biodiversidad, el aumento de los productos químicos empleados con repercusiones indirectas sobre la salud y/o la futura producción de alimentos. Por último se introducen elementos de discusión sobre la seguridad alimentaria en términos de disponibilidad de alimentos y soberanía alimentaria, dado que el mercado de las semillas transgénicas y los agroquímicos asociados está copado por cinco grandes empresas transnacionales. La conclusi ón hace un análisis de la contribución de la agricultura biotecnoló- gica a la sostenibilidad.

  12. Caracterización de pacientes con enfermedades genéticas del esqueleto en un centro colombiano de remisión

    Directory of Open Access Journals (Sweden)

    Harvy Mauricio Velasco

    2017-06-01

    Resultados. El motivo de consulta más frecuente fue por sospecha de enfermedad genética del esqueleto. Entre los tipos de tratamiento, se consideraron los de soporte, los quirúrgicos, el farmacológico y la ‘ortesis’, y se pudo establecer que los pacientes con enfermedades genéticas del esqueleto obtenían puntajes mayores en la variable de intervención y menores en las de talla alta y baja. Conclusiones. El diagnóstico de la mayoría de los pacientes remitidos respondía a enfermedades genéticas del esqueleto, talla baja y otras enfermedades genéticas monogénicas. Se encontraron diferencias significativas entre la edad de inicio de los síntomas y la de diagnóstico, así como diversos enfoques terapéuticos. Hubo menos intervenciones en los pacientes con talla alta y baja, lo cual podría alertar sobre la necesidad de reevaluar las necesidades terapéuticas de este grupo.

  13. Aspectos genéticos de las epilepsias: una visión actualizada

    Directory of Open Access Journals (Sweden)

    Iscia Lopes-Cendes, M.D., PHD

    2013-11-01

    Full Text Available Es reconocido que los factores genéticos están involucrados en la etiología de diversas epilepsias, sin embargo los genes causales se han logrado identificar principalmente en las epilepsias monogénicas, que representan sólo el 1 a 2% de los síndromes epilépticos. El presente artículo describe algunos de los principales genes identificados hasta el momento en los síndromes mendelianos y no mendelianos. También se hace mención de los principales genes involucrados en la etiología de las malformaciones del desarrollo cortical y de las epilepsias mioclónicas progresivas.

  14. Genómica del Trypanosoma cruzi. Nuevas oportunidades para tratar el mal de Chagas

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    Jorge A. Huete-Pérez

    2006-12-01

    Full Text Available LA SECUENCIACIÓN DEL GENOMA HUMANO PUBLICADA EN FEBRERO de 2001 ha sido considerada como el hito científico más importante del siglo XX. La secuenciación, cuatro años más tarde, de tres parásitos tripanosmatidas, entre ellos el Trypanosoma cruzi, podría ser también catalogada como uno de los acontecimientos científicos más importantes para la salud publica del continente americano. Aquí se presenta un panorama general sobre los resultados más significativos del estudio geonómico del T. cruzi, se abordan los trabajos realizados por nuestro laboratorio en la Universidad Centroamericana, finalizando con una discusión sobre las perspectivas del uso de la genómica en Nicaragua.

  15. Polimorfismos en el gen promotor de IL-10 en una muestra de pacientes colombianos con lepra

    Directory of Open Access Journals (Sweden)

    Nora Cardona-Castro

    2012-03-01

    Conclusiones. El haplotipo que encontramos asociado con lepra, -1082A-819C-592C/-1082A-819C-592C, se ha relacionado con baja producción de IL-10. Funcionalmente, esta baja producción de IL-10 puede tener consecuencias en la respuesta inmunitaria, además de implicaciones clínicas. Se han reportado diferentes haplotipos de IL-10 como marcadores de vulnerabilidad y resistencia de lepra en otras poblaciones, lo cual sugiere que las diferencias en la distribución de diversos polimorfismos del gen de IL-10 entre grupos étnicos, es un factor importante al determinar la asociación entre enfermedad y genes.   DOI: http://dx.doi.org/10.7705/biomedica.v32i1.386

  16. Variabilidad genética en cepas de Sporothrix schenckii aisladas en Abancay, Perú

    Directory of Open Access Journals (Sweden)

    Susan Holechek

    2004-04-01

    Full Text Available Objetivo: Identificar los genotipos de S. schenckii que circulan en 2 distritos de la provincia de Abancay, Perú. Material y Métodos: Se evaluaron 17 cepas procedentes de pacientes con lesiones linfocutáneas y lesión cutánea fija mediante la técnica del ADN Polimorfo Amplificado Aleatorio - Reacción en Cadena de la Polimerasa (RAPD - PCR con el cebador GTG 5 (GTG GTG GTG GTG GTG. Resultados: Identificamos 6 genotipos, siendo el genotipo I el predominante en las áreas de estudio. No se logró asociar los genotipos obtenidos con caracteres clínicos y geográficos. Conclusiones: Nuestros resultados evidencian que existe biodiversidad genética entre las cepas de S. schenckii que circulan en ambas zonas.

  17. Evaluación genética preliminar de bovinos Angus en México mediante valores de cría genómicos / Preliminary genetic evaluation of Angus cattle in Mexico using genomic breeding values

    Directory of Open Access Journals (Sweden)

    Daniela Elizabeth Briones Martín del Campo

    2014-04-01

    Full Text Available Con el objeto de evaluar genéticamente bovinos Angus importados a México como embriones, en comparación con una población de referencia internacional y bovinos concebidos localmente, se genotipificaron 143 animales Angus y Angus Rojo con la plataforma BeadChiplllumina BovineSNP50® y se predijeron sus valores de cría genómicos (MVP. En promedio fueron superiores a la media de la población de referencia para características de facilidad de parto directa y materna, habilidad lechera, crecimiento desde el destete hasta el año de edad, peso de la canal, desarrollo muscular, marmoleo y el índice económico de engorda en confinamiento. Los animales originados con germoplasma importado fueron superiores a los concebidos localmente para las características de crecimiento desde el destete hasta el año de edad, desarrollo muscular, marmoleo, terneza de la carne y el índice económico. La población de bovinos Angus evaluada mostró tener potencial genético para seleccionar y utilizar reproductores mejorados.

  18. TrayGen: Arranging objects for exhibition and packaging

    KAUST Repository

    Yang, Yongliang; Huang, Qixing

    2013-01-01

    We present a framework, called TrayGen, to generate tray designs for the exhibition and packaging of a collection of objects. Based on principles from shape perception and visual merchandising, we abstract a number of design guidelines on how

  19. EPCGen2 Pseudorandom Number Generators: Analysis of J3Gen

    Directory of Open Access Journals (Sweden)

    Alberto Peinado

    2014-04-01

    Full Text Available This paper analyzes the cryptographic security of J3Gen, a promising pseudo random number generator for low-cost passive Radio Frequency Identification (RFID tags. Although J3Gen has been shown to fulfill the randomness criteria set by the EPCglobal Gen2 standard and is intended for security applications, we describe here two cryptanalytic attacks that question its security claims: (i a probabilistic attack based on solving linear equation systems; and (ii a deterministic attack based on the decimation of the output sequence. Numerical results, supported by simulations, show that for the specific recommended values of the configurable parameters, a low number of intercepted output bits are enough to break J3Gen. We then make some recommendations that address these issues.

  20. Diversidad genética y contenido de carotenos totales en accesiones de yuca (Manihot esculenta Crantz

    Directory of Open Access Journals (Sweden)

    Ana Cruz Morillo C.

    2011-04-01

    Full Text Available La yuca (Manihot esculenta Crantz es un arbusto perenne cultivado en África, América Latina y el Sureste asiático, cuya raíz constituye una fuente importante de energía en la dieta humana en países tropicales. Los carotenoides son pigmentos naturales que se encuentran ampliamente distribuidos en la naturaleza. Se reconoce que aproximadamente cincuenta de ellos tienen actividad provitamina A, siendo b-caroteno el de mayor eficiencia para su conversión en vitamina A. El estudio de la variabilidad genética es un procedimiento útil para fortificar, enriquecer o incrementar el contenido de nutrientes de los alimentos o cultivos, entre ellos los carotenos en raíz de yuca mediante procesos de selección y recombinación en programas de mejoramiento que permitan identificar genotipos superiores. En el presente estudio, a partir de la evaluación de la diversidad genética, se generó un dendrograma de accesiones de yuca en el cual se formaron seis grupos con 68% de similitud. La heterocigosidad promedio observada fue de Ht = 0.559. Los análisis de regresión y correlación entre el contenido de carotenos totales y los datos moleculares mostraron que los marcadores que se encuentran correlacionados con altos contenidos de carotenos pertenecen al grupo de ligamiento D del mapa molecular de yuca.

  1. ZnSe/ZnSeTe Superlattice Nanotips

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    Young SJ

    2010-01-01

    Full Text Available Abstract The authors report the growth of ZnSe/ZnSeTe superlattice nanotips on oxidized Si(100 substrate. It was found the nanotips exhibit mixture of cubic zinc-blende and hexagonal wurtzite structures. It was also found that photoluminescence intensities observed from the ZnSe/ZnSeTe superlattice nanotips were much larger than that observed from the homogeneous ZnSeTe nanotips. Furthermore, it was found that activation energies for the ZnSe/ZnSeTe superlattice nanotips with well widths of 16, 20, and 24 nm were 76, 46, and 19 meV, respectively.

  2. Introducing AstroGen: The Astronomy Genealogy Project

    OpenAIRE

    Tenn, Joseph S.

    2016-01-01

    The Astronomy Genealogy Project ("AstroGen"), a project of the Historical Astronomy Division of the American Astronomical Society (AAS), will soon appear on the AAS website. Ultimately, it will list the world's astronomers with their highest degrees, theses for those who wrote them, academic advisors (supervisors), universities, and links to the astronomers or their obituaries, their theses when on-line, and more. At present the AstroGen team is working on those who earned doctorates with ast...

  3. Desarrollo de algoritmos bioinformáticos para estudios de genómica funcional: aplicaciones en cáncer

    OpenAIRE

    Fontanillo Fontanillo, Celia

    2014-01-01

    [ES]La presente Tesis Doctoral se enmarca en las áreas de conocimiento de la Bioinformática y Biología Computacional y también de la Genómica Funcional y Genómica del Cáncer. El objetivo fundamental de la Genómica Funcional es entender cómo funciona el genoma en su conjunto mediante el análisis de la actividad de todos sus genes y de los múltiples factores que regulan o influyen la expresión de los mismos, así como otras entidades biomoleculares relacionadas. La recolección sistemática de inf...

  4. Variabilidade genética em populações naturais de Ziziphus joazeiro Mart., por meio de marcadores moleculares RAPD

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    Itamara Bomfim Gois

    2014-08-01

    Full Text Available Os estudos de diversidade genética em populações naturais são imprescindíveis para a elaboração de estratégias de conservação. Assim, este trabalho foi realizado com o objetivo de caracterizar geneticamente, por meio de marcadores Random Amplified Polymorphic DNA (RAPD, populações naturais de Ziziphus joazeiro Mart., localizadas na região do Baixo São Francisco sergipano. Foram empregados 20 oligonucleotídeos e, a partir do polimorfismo observado, foram estimadas a porcentagem de polimorfismo, a variabilidade genética e a similaridade genética (Sgij, por meio do coeficiente de Jaccard. O teste de Mantel foi realizado para avaliar a correlação entre a similaridade genética e a distância geográfica; sendo o fluxo gênico também estimado. O polimorfismo observado nas populações de Z. joazeiro variou de 58,1 a 66,5% e a similaridade genética, de 44 a 54%. A similaridade genética não está correlacionada com a distância geográfica, e os valores observados para o índice de diversidade genética de Nei, para o índice de Shannon e para os parâmetros HS, HT e GST foram considerados altos e semelhantes aos encontrados em outras espécies arbóreas. A porcentagem de locos polimórficos foi considerada baixa. Maior identidade genética foi encontrada entre as populações de Canindé do São Francisco e Santana do São Francisco; e a maior distância genética entre as populações de Canhoba e Canindé do São Francisco. O fluxo gênico foi maior que 1. Com base nos resultados, pode-se afirmar que há alta variabilidade genética entre as populações e que estas podem estar geneticamente estruturadas.

  5. Resgate in vitro de embriões em genótipos diplóides de bananeira

    Directory of Open Access Journals (Sweden)

    Neves Tárcia dos Santos

    2001-01-01

    Full Text Available Este trabalho teve por objetivo avaliar a técnica de resgate de embriões de sementes de bananeira em genótipos diplóides e a influência de defeitos do embrião e do endosperma na germinação in vitro. Foram utilizados os genótipos Calcutta, Malaccensis, Butuhan, França, 0304-02, 1304-06, 4252-04 e 9379-09. De cada genótipo, 100 sementes recém-coletadas foram embebidas em água destilada, por 24 horas, e desinfestadas em solução à base de nitrato de prata e cloreto de sódio. Os embriões extraídos foram introduzidos em meio MS com 30 g L-1 desacarose e 7 g L-1 de ágar, e cultivados em câmara de crescimento, no escuro e em temperatura de 26 ± 2ºC. A germinação concentrou-se do quinto ao vigésimo dia de cultivo e apresentou uma média de 53,25% após 45 dias, independentemente do genótipo. As espécies selvagens apresentaram porcentagem média de germinação maior do que a dos genótipos híbridos. A presença de embrião e endosperma normais não foi essencial para a germinação in vitro.

  6. Parapedobacter koreensis gen. nov., sp. nov.

    Science.gov (United States)

    Kim, Myung Kyum; Na, Ju-Ryun; Cho, Dong Ha; Soung, Nak-Kyun; Yang, Deok-Chun

    2007-06-01

    Strain Jip14(T), a Gram-negative, non-spore-forming, rod-shaped, non-motile bacterium, was isolated from dried rice straw and characterized in order to determine its taxonomic position. 16S rRNA gene sequence analysis revealed that strain Jip14(T) belongs to the family Sphingobacteriaceae, and the highest degree of sequence similarity was determined to be to Pedobacter saltans DSM 12145(T) (88.5 %), Pedobacter africanus DSM 12126(T) (87.6 %), Pedobacter heparinus DSM 2366(T) (87.1 %) and Pedobacter caeni LMG 22862(T) (86.9 %). Chemotaxonomic data revealed that strain Jip14(T) possesses menaquinone MK-7 and the predominant fatty acids C(15 : 0) iso, C(16 : 0), C(16 : 0) 10-methyl, C(17 : 0) iso 3-OH and summed feature 3 (C(15 : 0) iso 2-OH/C(16 : 1)omega7c). The results of physiological and biochemical tests clearly demonstrated that strain Jip14(T) represents a distinct species. Based on these data, Jip14(T) should be classified within a novel genus and species, for which the name Parapedobacter koreensis gen. nov., sp. nov. is proposed. The type strain of Parapedobacter koreensis is Jip14(T) (=KCTC 12643(T)=LMG 23493(T)).

  7. Banque Cantonale de Genève

    CERN Multimedia

    Banque Cantonale de Genève

    2011-01-01

    7e Salon Immobilier BCGE le samedi 3 septembre 2011, de 8 h 30 à 13 h 00, au Centre de formation de Conches À cette occasion, les meilleurs spécialistes professionnels genevois de l’immobilier seront réunis en un seul et même lieu. Si vous le souhaitez, un conseiller spécialisé dans les financements hypothécaires évaluera vos possibilités d’investissement immobilier adaptées à votre situation personnelle. En parallèle, les plus importantes régies immobilières de Genève seront à votre disposition pour vous présenter leurs offres actuelles, ainsi que les projets immobiliers futurs et discuter avec vous de la meilleure stratégie à adopter pour trouver l’objet de vos rêves. De plus, vous aurez la possibilité...

  8. Corrección a una equivocación de Karl Pearson (1904: la suma de fracciones de Mendel no produce acoplamientos genéticos incompletos

    Directory of Open Access Journals (Sweden)

    Conrado Ruiz Hernández

    2014-01-01

    Full Text Available A comienzos del siglo xx, matemáticos prominentes encontraron una conexión entre el binomio de Newton y las leyes de Mendel con el objetivo de proyectarla a poblaciones enteras considerando a descendientes de varias generaciones. Dentro de esta búsqueda, en 1904 Karl Pearson formuló objeciones sobre los preceptos de Mendel, en particular respecto a los descendientes puros (dominantes y recesivos, que provienen de progenitores híbridos que a su parecer se constituyen en acoplamientos genéticos incompletos, resultado de la suma de fracciones. Se realiza el análisis matemático de este algoritmo (considerando el contexto biológico de su aplicación y se concluye que los descendientes puros previstos en las leyes de Mendel son acoplamientos genéticos completos.

  9. Testes genéticos na eqüideocultura

    Directory of Open Access Journals (Sweden)

    Eduardo Geraldo Alves Coelho

    2008-07-01

    Full Text Available Nos últimos anos a equideocultura deu um salto qualitativo, havendo hoje, no mercado, animais de alto valor e geneticamente superiores. Isso é possível, em grande parte, devido aos avanços na área da genética animal, os quais permitem identificar, não apenas anomalias, mas também diversos genes de interesse econômico. Com o auxílio da citogenética pode-se identificar indivíduos com alterações no número ou na estrutura dos cromossomos, o que em muitos casos afeta principalmente a reprodução. Também a confirmação de genealogia, anteriormente feita por tipagem sangüínea e atualmente por testes de DNA, tem papel extremamente importante, não apenas por garantir a ascendência dos animais, mas também porque um pedigree confiável pode permitir ao criador identificar a origem de problemas genéticos em seu rebanho e reduzi-los ou mesmo, eliminá-los. Ainda com as ferramentas da biologia molecular, podemos hoje, identificar indivíduos que apresentam genes desejáveis ou indesejáveis, o que nos permite selecioná-los precocemente, reduzindo assim, os custos do produtor e aumentando o valor agregado dos animais. Entre tais genes podemos destacar os que identificam portadores ou afetados por mutações genéticas indesejáveis como: SCID (Síndrome da Imunodeficiência Combinada, HYPP (Parilisa Hipercalêmica, HERDA (Astenia Dérmica Regional Hereditária Eqüina, etc. Também a identificação dos genes que determinam a cor ou padrão da pelagem já pode ser feita direta ou indiretamente (por meio de marcadores genéticos, como é o caso dos genes para as pelagens Overo, Tobiano, etc. Com os avanços no estudo do genoma eqüino muito mais estará disponível em breve, o que certamente só trará maiores contribuições à equideocultura mundial.In the last few years the horse breeding industry is achieving significant progresses producing animals of high commercial value and genetically superior. It was possible, mainly due to

  10. Salud pública, genética y ética Public health, genetics and ethics

    Directory of Open Access Journals (Sweden)

    Miguel H Kottow

    2002-10-01

    Full Text Available La investigación genética ha tenido una enorme expansión en recientes décadas, con repercusiones terapéuticas aún inciertas. El análisis bioético tradicional de las complejas prácticas genéticas ha sido insuficiente por sostenerse en la ética de la investigación y en la bioética de corte principialista. Los problemas éticos más importantes de la genética son de orden colectivo y deben ser abordados por una reflexión ético-social cuyo enfoque es más amplio que la agenda interpersonal del principialismo. Temas como exploraciones genéticas, cuestiones patrimoniales, manipulación génica y asignación de recursos, deben todos ser sometidos a un pensamiento inspirado en los requerimientos de la ciudadanía, en el bien común y en la definición del rol del Estado en fiscalizar actividades genéticas y en proteger a la población. El objetivo del estudio es mostrar cómo el amplio campo de la ética y de la genética tiene una mayor relevancia en el campo social que en el clínico. El objetivo del trabajo es señalar que la bioética principialista ha enfatizado los problemas éticos individuales que nacen con la intervención genética, a costa de marginar sus importantes repercusiones sociales.Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the

  11. Determinação da dissimilaridade genética entre acessos de Capsicum chinense com base em características de flores

    Directory of Open Access Journals (Sweden)

    Carla Sigales de Vasconcelos

    2012-08-01

    Full Text Available As pimentas do gênero Capsicum apresentam grande importância para o mercado de condimentos e para o uso ornamental no Brasil. A estimativa da diversidade genética é importante na escolha de progenitores de programa de melhoramento genético. Este trabalho teve por objetivo verificar a eficiência de descritores multicategóricos de flores para estimar a dissimilaridade genética entre acessos de Capsicum chinense, do Banco Ativo de Germoplasma Capsicum, da Embrapa Clima Temperado. O experimento foi realizado no período de agosto de 2009 a março de 2010, no campo experimental da Embrapa Clima Temperado, em blocos ao acaso, utilizando-se 22 acessos, com dez plantas por parcela. Para a caracterização morfológica das flores, foram avaliadas cinco flores de cada planta, de dez plantas por acesso. Foram utilizados 15 descritores, sendo cinco quantitativos e dez qualitativos multicategóricos. Foram realizadas análises de comparação de médias, utilizando-se agrupamento pelos métodos UPGMA e de Tocher, para os dados quantitativos, e agrupamento pelo método de Tocher, para os dados qualitativos. Os acessos estudados apresentam ampla diversidade genética em relação a descritores de flores, existindo grande variabilidade entre os acessos avaliados, o que recomenda seu uso em programas de melhoramento genético. O uso de descritores multicategóricos de flores é eficiente para estimar a dissimilaridade genética entre acessos de Capsicum chinense.

  12. Interaction of Se and GaSe with Si(111)

    International Nuclear Information System (INIS)

    Meng, Shuang; Schroeder, B. R.; Olmstead, Marjorie A.

    2000-01-01

    Deposition of Se and GaSe on Si(111)7x7 surfaces was studied with low-energy electron diffraction, x-ray photoelectron spectroscopy, and x-ray photoelectron diffraction to probe initial nucleation and interface structure for GaSe/Si(111) heteroepitaxy. Room-temperature deposition of Se on Si(111)7x7 results in an amorphous film. Subsequent annealing leads to Se evaporation without ordering or interdiffusion. Se deposition at 450 degree sign C saturates at submonolayer coverage with no diffusion of Se into the substrate. There is no clear evidence of ordered sites for the Se. Growth of GaSe on Si(111)7x7 above 500 degree sign C results in a pseudomorphic bilayer, with Si-Ga-Se bonding. Additional GaSe does not stick to the bilayer above 525 degree sign C. The resulting Se lone pair at the surface leads to an ideally passivated surface similar to As/Si(111). This stable surface is similar to the layer termination in bulk GaSe. The single domain bilayer is oriented with the Ga-Se bond parallel to the substrate Si-Si bond. (c) 2000 The American Physical Society

  13. Variabilidad genética de Plasmodium falciparum en pacientes con malaria grave y malaria no complicada en Iquitos - Perú

    Directory of Open Access Journals (Sweden)

    Gisely Hijar G

    2002-07-01

    Full Text Available Objetivo: Determinar la diversidad genética del gen que codifica la proteína rica en glutamato (GLURP de Plasmodium falciparum en pacientes con malaria complicada y no complicada circulante en un área del departamento de Loreto, distrito de Maynas. Materiales y métodos: La diversidad genética fue analizada usando reacción en cadena de la polimerasa (PCR en 30 muestras sanguíneas de pacientes con malaria no complicada (MNC y 46 con malaria grave complicada (MGC. Resultados: Ocho genotipos fueron detectados en pacientes con MNC (Genotipo I,II,III, IV,V, VI,VII y VIII y cuatro genotipos en los pacientes con MGC (Genotipo V,VI,VII,VIII. Asimismo, en 50% de las muestras con MNC fueron detectadas infecciones múltiples, a diferencia de las muestras de MGC en donde no se detectó infecciones múltiples. Conclusión: Existe una diversidad genética en esta región del gen GLURP de P. falciparum, para esa época (marzo 1998 - abril 1999 y esa área del país. En tal sentido, nuestros resultados podrían servir de base para llevar a cabo estudios epidemiológicos posteriores, ya que permitiría conocer la distribución de las cepas circulantes en nuestro país.

  14. Acceso a recursos genéticos y distribución de beneficios en Colombia: desafíos del régimen normativo

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    Luciana Carla Silvestri

    2016-06-01

    Full Text Available La investigación analiza los retos que presenta el régimen colombiano sobre acceso a recursos genéticos y distribución de beneficios mediante la utilización del método jurídico, con un enfoque descriptivo, comparativo y propositivo. El mecanismo de acceso y distribución de beneficios pretende desacelerar la pérdida de diversidad genética, entre otros fines. El marco legal se encuentra incompleto y no sistematizado. Asimismo, el procedimiento de acceso a recursos genéticos surge burocrático e ineficiente y obstaculiza así la investigación de la biodiversidad del país. Afortunadamente, la reciente simplificación del procedimiento para investigar recursos genéticos con fines no comerciales podría ayudar a resolver el mencionado problema para este tipo de proyectos. Además, la consulta previa articulada para el acceso a recursos genéticos ubicados en territorios de las comunidades indígenas y negras no garantiza la efectiva participación de aquellas. Por último, las medidas de cumplimiento establecidas, que circunscriben el control al acatamiento de la legislación colombiana y la de los países andinos, no satisfacen las disposiciones del Protocolo de Nagoya al respecto.

  15. Composición Musical a Través del Uso de Algoritmos Genéticos

    Directory of Open Access Journals (Sweden)

    Ezequiel Moldaver

    2014-06-01

    Full Text Available Este trabajo se enfocará en el uso de los algoritmos genéticos (AAGG con el fin de mezclar armonías y melodías de forma que se genere una composición musical de buen sonido para el oído, lo que significa que el contexto de cada nota respaldará la sonoridad de la misma provocando que no se genere un efecto disonante de forma permanente, que se genere una disonancia momentánea es permisible ya que es parte de la misma música generar tensión a través de pequeños intervalos poco agradables al oído.

  16. Variabilidad genética de Aedes aegypti en algunas áreas del Perú usando Single Stranded Conformational Polymorphism (SSCP

    Directory of Open Access Journals (Sweden)

    Nélida Leiva G

    2004-07-01

    Full Text Available Aedes aegypti es el vector responsable de la transmisión del virus del dengue, su distribución geográfica se ha ampliado rápidamente debido principalmente a la intervención de los seres humanos. Objetivo: Analizar la variabilidad genética de este mosquito mediante la comparación del Segundo Espaciador Transcrito Interno (ITS 2 perteneciente al ADN ribosomal (rADN. Materiales y Métodos: Se analizaron muestras de ocho localidades (Jaén, Tingo María, Iquitos, Lambayeque, el distrito de El Rimac, Sullana y Zarumilla y uno de la provincia de Huaquillas (Ecuador. El análisis de la variabilidad se determinó usando la técnica conocida como SSCP (Single Stranded Conformation Polymorphism. Resultados: El estudio muestra que existe variabilidad genética entre las poblaciones analizadas, principalmente entre las muestras localizadas en la costa del Perú (Zarumilla, El Rímac, Sullana y Huaquillas y las muestras del nororiente (Tingo María, Iquitos, Jaén y Lambayeque Conclusión: Se determinaron dos variantes genéticas entre las poblaciones de Aedes aegypti: Costeña y Nororiental, que probablemente provienen de dos ancestros diferentes y cuyo ancestro común sufrió de aislamiento por distancia. Se observó que no existe relación entre las distancias genéticas y las distancias geográficas indicando que la migración de estas poblaciones es el resultado de la intervención de los seres humanos que diseminan al vector y no por la migración activa del mosquito. Se plantea el papel de la Cordillera de los Andes en la migración y separación de las poblaciones de Aedes.

  17. Las competencias genéricas del estudiante y la influencia en su nivel de emprendimiento en la Facultad de Ciencias Empresariales de la Universidad Alas Peruanas – Filial Tacna

    OpenAIRE

    Eyzaguirre Mazuelos, Néstor Guido

    2014-01-01

    La presente tesis tuvo como objetivo principal determinar la influencia de las competencias genéricas del estudiante sobre su nivel de emprendimiento en la Facultad de Ciencias Empresariales de la Universidad Alas Peruanas – Filial Tacna, en el año 2013; para lo cual, se trabajó con una muestra de 150 estudiantes de las 03 Escuelas Profesionales; se encontró que existe una relación directa y significativa entre los indicadores de las competencias genéricas del estudiante y los indicadores de ...

  18. Diagnóstico genético del polimorfismo en citocromo P450 mediante ensayo de PCR múltiplex (Práctica en laboratorio virtual Cibertorio)

    OpenAIRE

    Herráez, Angel

    2017-01-01

    Guión de trabajo para el laboratorio virtual «Cibertorio» en Biomodel.UAH.es Se habla de diversidad genética de los individuos como el resultado de que, en diversas regiones del genoma, unas personas tenemos secuencias de nucleótidos que nos diferencian de otras; esto se denomina polimorfismo genético. Cuando estas regiones polimórficas corresponden a zonas codificantes de un producto, existen consecuencias funcionales. La superfamilia enzimática citocromo P450 juega un papel crucial ...

  19. Estudio de asociación entre polimorfismos genéticos y variables antropométricas y de condición física durante el envejecimiento

    OpenAIRE

    García Molina, Rafael

    2016-01-01

    En las últimas décadas se ha estudiado el envejecimiento de las personas, y su influencia sobre la calidad de vida en el colectivo de las personas mayores. Muchos estudios se han centrado en el papel de la genética y su influencia en las personas mayores de 65 años; tratando de relacionarlo con las variaciones en variables de composición corporal y/o de condición física durante el envejecimiento. En esta tesis hemos querido hacer un estudio conjunto de estas 3 importantes variables (genética-...

  20. Desafios futuros: de uma análise da genética e biotecnologia na imprensa portuguesa durante o biénio 1994/5 para novas tecnologias nas sociedades actuais

    OpenAIRE

    Lima,Maria Alexandra V. Abreu

    2006-01-01

    Este estudo analisa na imprensa Portuguesa a frequência e o conteúdo de notícias sobre genoma, genética e biotecnologia sobretudo nos domínios agrícola e da medicina/saúde humana. Discutem-se os resultados com base em estudos sobre genética e biotecnologia na imprensa Internacional, Brasileira e Portuguesa (Gutteling et al., 2002; Tognolli, 2003; Garcia, 2004) e aspectos da opinião pública e amplificação social do risco (Frewer et al. 2002), tirando-se conclusões sobre desafios com interesse ...

  1. Efeito da temperatura e reação de genótipos de quiabeiro ao mofo branco

    Directory of Open Access Journals (Sweden)

    Ivan Herman Fischer

    2014-03-01

    Full Text Available O quiabeiro é suscetível a várias doenças que podem causar prejuízos ao agricultor, caso não sejam manejadas. Objetivaram-se avaliar o efeito da temperatura e a reação de genótipos de quiabeiro ao mofo branco. Plantas de 30 dias inoculadas na região do colo, com e sem ferimento, com dois isolados de Sclerotinia sclerotiorum, foram mantidas por duas semanas nas temperaturas de 15; 20; 25; 30 ou 35ºC. Quatorze genótipos de quiabeiro com um e dois meses de emergência, assim como frutos no ponto de colheita comercial tiveram seus comportamentos avaliados quanto à doença. Avaliaram-se a incidência de plantas com tombamento ou mortas e o comprimento da lesão nos frutos inoculados. A doença foi favorecida por temperaturas entre 15 e 20ºC e, de maneira geral, não foram observadas diferenças entre os isolados e influência do ferimento na ocorrência da doença. Não foram encontrados genótipos de quiabeiro resistentes ao mofo branco, pois todos apresentaram incidência superior a 30% de plantas mortas, sendo as plantas mais novas mais suscetíveis, e comprimento de lesão nos frutos >6,0 cm. Entretanto, diferenças de suscetibilidade entre os genótipos foram observadas em plantas de 30 e de 60 dias e podem ser informações úteis aos produtores para escolha de cultivares em clima ameno, assim como ser exploradas em programas de melhoramento.

  2. Microsatélites amplificados al azar (RAM en estudios de diversidad genética vegetal

    Directory of Open Access Journals (Sweden)

    Muñoz Flórez Jaime Eduardo

    2008-12-01

    Full Text Available Se revisó el uso e importancia, ventajas, desventajas y características de la técnica Microsatélites Amplificados al Azar (RAM en uchuva Physalis peruviana, mora Rubus spp, guayaba Psidium guajava y heliconias Heliconia spp. En mora se diferenciaron las especies R. glaucus, R. robustus y R. urticifolius, se detectaron duplicados y se encontró alta variabilidad genética en R. glaucus, la especie más importante. En uchuva se encontró alta diversidad y dos accesiones de fruto rojo que se diferenciaron genéticamente de las amarillas y una región geográfica con alta variabilidad. En guayaba los cebadores fueron altamente polimórficos y se encontró alta variabilidad en el Valle del Cauca. En heliconias y especies relacionadas se diferenciaron las familias del orden Zingiberales, algunos subgéneros y variaciones en la especie. La técnica es de bajo costo, utiliza un cebador, no requiere información previa, es altamente polimórfica y diferencia especies en los taxones evaluados.

  3. Identificación y mapeo de AFLPs ligados al gen de resistencia al PVX en Solanum commersonii

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    Mónica Blanco

    2005-01-01

    Full Text Available Solanum commersonii es una especie silvestre de papa considerada como una fuente de genes de resistencia al PVX. Para identificar marcadores moleculares relacionados con los genes de resistencia a este virus, se realizó un análisis en el que se combinó la técnica de BSA con el uso de AFLPs. Del cruce de 2 padres heterocigotos y resistentes al PVX, provenientes de una F1, se obtuvo una F2. La población fue inoculada con el PVXMS y 30 días después mediante un ELISA, la progenie fue dividida en individuos infectados y no infectados con el PVXMS; a estos 2 grupos se les realizó un BSA. El ADN de los individuos resistentes fue mezclado aparte del ADN de los individuos susceptibles y con la ayuda de AFLPs se logró identificar 22 combinaciones de imprimadores que produjeron bandas específicas relacionadas con el carácter de resistencia al PVX. Las combinaciones de imprimadores seleccionadas fueron utilizadas para evaluar cada uno de los individuos de la F2 en forma independiente. Producto de este análisis se obtuvo 63 bandas polimórficas relacionadas al carácter de resistencia, cuya información fue introducida en el programa MAPRF6. Como resultado se obtuvo 4 grupos de ligamiento. Se encontró un RGA, obtenido en otro estudio que co-segrega (0 cM con el locus del gen de resistencia extrema (Rx y los AFLPs 42 y 39 que están rodeando el mismo locus a 22,6 cM o más. La información obtenida será básica para implementar programas de selección asistida por marcadores moleculares en el mejoramiento genético.

  4. Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.

    Science.gov (United States)

    Nielsen, Peter B; Petersen, Maja S; Ystaas, Viviana; Andersen, Rolf V; Hansen, Karin M; Blaabjerg, Vibeke; Refstrup, Mette

    2012-10-01

    Classical hereditary hemochromatosis involves the HFE-gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G>A; rs1800562) and HFE p.H63D (c.187C>G; rs1799945). The affected protein alters the iron homeostasis resulting in iron overload in various tissues. The aim of this study was to validate the TaqMan-based Sample-to-SNP protocol for the analysis of the HFE-p.C282Y and p.H63D variants with regard to accuracy, usefulness and reproducibility compared to an existing SNP protocol. The Sample-to-SNP protocol uses an approach where the DNA template is made accessible from a cell lysate followed by TaqMan analysis. Besides the HFE-SNPs other eight SNPs were used as well. These SNPs were: Coagulation factor II-gene F2 c.20210G>A, Coagulation factor V-gene F5 p.R506Q (c.1517G>A; rs121917732), Mitochondria SNP: mt7028 G>A, Mitochondria SNP: mt12308 A>G, Proprotein convertase subtilisin/kexin type 9-gene PCSK9 p.R46L (c.137G>T), Plutathione S-transferase pi 1-gene GSTP1 p.I105V (c313A>G; rs1695), LXR g.-171 A>G, ZNF202 g.-118 G>T. In conclusion the Sample-to-SNP kit proved to be an accurate, reliable, robust, easy to use and rapid TaqMan-based SNP detection protocol, which could be quickly implemented in a routine diagnostic or research facility. Copyright © 2012. Published by Elsevier B.V.

  5. The influence of iron status and genetic polymorphisms in the HFE gene on the risk for postoperative complications after bariatric surgery: a prospective cohort study in 1,064 patients

    Directory of Open Access Journals (Sweden)

    Freedman-Weiss Mollie

    2011-01-01

    Full Text Available Abstract Background Gastric bypass surgery is a highly effective therapy for long-term weight loss in severely obese patients, but carries significant perioperative risks including infection, wound dehiscence, and leaks from staple breakdown. Iron status can affect immune function and wound healing, thus may influence peri-operative complications. Common mutations in the HFE gene, the gene responsible for the iron overload disorder hereditary hemochromatosis, may impact iron status. Methods We analyzed 1064 extremely obese Caucasian individuals who underwent open and laparoscopic Roux-n-Y gastric bypass surgery at the Geisinger Clinic. Serum iron, ferritin, transferrin, and iron binding capacity were measured pre-operatively. All patients had intra-operative liver biopsies and were genotyped for the C282Y and H63D mutations in the HFE gene. Associations between surgical complications and serum iron measures, HFE gene status, and liver iron histology were determined. Results We found that increased serum iron and transferrin saturation were present in patients with any post-operative complication, and that increased serum ferritin was also increased in patients with major complications. Increased serum transferrin saturation was also associated with wound complications in open RYGB, and transferrin saturation and ferritin with prolonged lengths of stay. The presence of 2 or more HFE mutations was associated with overall complications as well as wound complications in open RYGB. No differences were found in complication rates between those with stainable liver iron and those without. Conclusion Serum iron status and HFE genotype may be associated with complications following RYGB surgery in the extremely obese.

  6. Resistência genética em genótipos de feijoeiro a Curtobacterium flaccumfaciens pv. flaccumfaciens Genetic resistance to Curtobacterium flaccumfaciens pv. flaccumfaciens in bean genotypes

    Directory of Open Access Journals (Sweden)

    Valmir Luiz de Souza

    2006-09-01

    Full Text Available Curtobacterium flaccumfaciens pv. flaccumfaciens (Cff agente causal da murcha-de-curtobacterium em feijoeiro (Phaseolus vulgaris, é um patógeno vascular de difícil controle. A doença foi detectada pela primeira vez no Brasil na safra das águas de 1995, no Estado de São Paulo. Por se tratar de uma doença de difícil controle, a resistência genética tem sido a melhor opção. O objetivo deste trabalho foi avaliar a reação de genótipos de feijoeiro à murcha-de-curtobacterium, frente a 333 acessos pertencentes ao banco de germoplasma de feijoeiro do Instituto Agronômico de Campinas (IAC. Oportunamente, foram selecionados genótipos de feijoeiro altamente resistentes e suscetíveis, com a finalidade de comparar a colonização de Cff no vaso do xilema a partir da visualização sob microscopia eletrônica de varredura. Os resultados da triagem da resistência genética em genótipos de feijoeiro indicaram a existência de variabilidade genética nas amostras dos 333 genótipos avaliados, ao isolado de Cff Feij 2634. Os materiais foram classificados em 4 grupos de resistência: 29 genótipos (8,7% comportaram-se como altamente resistentes, 13 genótipos (3,9% como resistentes, 18 genótipos (5% como moderadamente resistentes e 273 genótipos (81% suscetíveis. A partir dos resultados obtidos, cerca de 18% dos genótipos de feijoeiros, desde altamente resistentes à moderadamente resistentes, poderão ser úteis para o programa de melhoramento genético como fonte de genes para resistência a Cff. Através da microscopia eletrônica de varredura, foram observadas em genótipos altamente resistentes, várias aglutinações da bactéria envolvidas por filamentos e estruturas rendilhadas sob pontuações da parede do vaso do xilema, não verificados em genótipos suscetíveis, o que sugere a ativação de mecanismos de defesa estruturais e bioquímicos nas plantas resistentes.Curtobacterium flaccumfaciens pv. flaccumfaciens (Cff, the causal

  7. Hereditariedade e suscetibilidade à reabsorção radicular em Ortodontia não se fundamentam: erros metodológicos e interpretativos repetidamente publicados podem gerar falsas verdades. Análise crítica do trabalho de Al-Qawasmi et al.² sobre a predisposição genética à reabsorção radicular de natureza ortodôntica Heredity and susceptibility to radicular resorption in Odontology do not base: methodological and interpretative repeatedly published mistakes can generate false truths. Critical analysis of Al-Qawasmi work about genetics predisposition to radicular reabsorption of orthodontic kind

    Directory of Open Access Journals (Sweden)

    Alberto Consolaro

    2004-05-01

    Full Text Available O trabalho de Al-Qawasmi et al.², publicado em agosto de 2003 no periódico Journal of Dental Research, procurou estabelecer um gene candidato para a hereditariedade e predisposição genética nas reabsorções dentárias em Ortodontia, mas apresentou e repetiu algumas limitações metodológicas e equívocos na interpretação de seu trabalho anterior de março de 2003¹. Nas conclusões afirmam explicitamente que os achados são preliminares e sugestivos, necessitando de confirmação por meio de estudos adicionais. Os resultados são correlacionados fundamentando-se em dados de outros autores sobre síndromes ósseas associadas a reabsorções por substituição, cervicais externas e não com as reabsorções radiculares externas apicais induzidas ortodonticamente. O gene da reabsorção radicular externa apical relacionada a tratamentos ortodônticos não foi determinado e muito menos a sua natureza hereditária. Nem tampouco, a suscetibilidade à reabsorção radicular em Ortodontia foi detectada ou provada. O trabalho analisado e os demais relacionados com o mesmo tema não conseguiram comprovar suas hipóteses porque ignoram que o primeiro passo para a reabsorção radicular externa é a destruição da camada cementoblástica e isto apenas ocorre a partir da ação de fatores locais. Analisando criticamente estes trabalhos podemos afirmar que procurar o gene da reabsorção radicular e da suscetibilidade a partir de pesquisas em mediadores e células clásticas demonstra a falta de um conhecimento completo e amplo da etiopatogenia deste importante fenômeno biológico, imprescindível para o estabelecimento da premissa dos trabalhos.The study of Al-Qawasmi et al.² published in August 2003 on Journal of Dental Research, aimed to establish a candidate gene for heritability and genetic predisposition to external root resorption in orthodontic patients. This paper, however, presents and repeated some methodological faults and equivocated

  8. Las bases genéticas de la longevidad y la hipótesis de las abuelas

    Directory of Open Access Journals (Sweden)

    Madrigal, Lorena

    2005-01-01

    Full Text Available La idea de que la longevidad inusual se transmita por vía materna se apoya en observaciones empíricas de que los centenarios tienen una frecuencia alta de ciertos alelos del mtADN en comparación a la población general. Estos estudios han comparado el material genético de centenarios con sujetos de la población general cuando los controles con los que se deberían de comparar los centenarios son los individuos que nacieron en la misma generación pero que no vivieron tantos años. La hipótesis que queremos investigar es si algunos haplotipos del mtADN le han dado una ventaja evolutiva a ciertas líneas mitocondriales por medio de una longevidad avanzada, particularmente a las mujeres. La hipótesis de las abuelas propone que la menopausia evolucionó para incrementar la contribución genética de las mujeres, no por medio de su propia fertilidad, sino por medio de la fertilidad de sus hijas. Es decir, la contribución genética de abuelas longevas va a ser mayor que la de aquéllas que mueren temprano. En ésta ponencia, expongo los resultados de un proyecto que incluye miembros de la University of South Florida, Universidad de Costa Rica y de la Universidad de Bologna. En éste estudio evitamos los problemas metodológicos ya citados, y comparamos el mtADN de individuos longevos y no longevos, por generación, habiendo obtenido el mtADN de 150 descendientes vivientes. Adicionalmente, sometemos a prueba la hipótesis de que la longevidad de la abuela se puede correlacionar estadísticamente con una mayor fertilidad de la hija, por generaciones.

  9. Estabilidade da resistência de genótipos de caupi a Callosobruchus maculatus (Fabr. em gerações sucessivas

    Directory of Open Access Journals (Sweden)

    Lima Marcileyne Pessôa Leite de

    2002-01-01

    Full Text Available Callosobruchus maculatus (Fabr. (Coleoptera: Bruchidae é a principal praga do caupi (Vigna unguiculata L. armazenado em condições tropicais e subtropicais. Avaliaram-se a estabilidade da resistência e a capacidade de adaptação de C. maculatus a genótipos de caupi, durante seis gerações. Utilizou-se o teste sem chance de escolha, em delineamento experimental inteiramente casualizado, em esquema fatorial, com dez tratamentos, seis gerações do inseto e cinco repetições. Cada repetição constou de 30 grãos infestados com dois casais da praga. O número de ovos/fêmea diferiu entre os genótipos de caupi apenas na sexta geração, e entre as gerações em BR14-Mulato, Bico de Pato, TE90-180-3E e TE87-98-8G. A viabilidade de ovos diferiu entre as gerações em BR17-Gurguéia, BR14-Mulato, IT89KD-260 e IT89KD-245, e entre os genótipos nas terceira, quinta e sexta gerações. Os genótipos diferiram entre e dentro das gerações, em relação à duração e a viabilidade da fase imatura. Observou-se redução na emergência, especialmente em IT89KD-245, IT89KD-260, CNC 0434, Bico de Pato, TE90-180-10F e BR14-Mulato, provavelmente devido a substâncias químicas presentes nos grãos que afetaram a sobrevivência dos insetos, ao longo das gerações. Os genótipos IT89KD-245 e IT89KD-260 comportaram-se como moderadamente resistentes. Não se observou adaptação de C. maculatus aos genótipos, mantendo-se a resistência estável através das gerações.

  10. O discurso do risco e o aconselhamento genético pré-natal

    Directory of Open Access Journals (Sweden)

    Marilena C. D. V. Corrêa

    Full Text Available A medicalização é um fenômeno social difuso nas sociedades ocidentais que se expressa segundo um diferencial de gênero. A gravidez é um momento fortemente medicalizado, no qual as mulheres se vêem cercadas de uma rede de vigilância de seu corpo, sendo responsabilizadas não só pela própria saúde, mas também pela produção de um feto saudável. O controle dos riscos no pré-natal é proposto, entretanto, em um contexto no qual as possibilidades diagnósticas são amplamente majoritárias comparativamente às possibilidades terapêuticas. Essa defasagem é agravada pelo fato de, no Brasil, o abortamento ser ilegal. Este artigo é fruto de pesquisa empírica realizada em um ambulatório público de genética pré-natal, que constou de: observação das práticas de atendimento, revisão de prontuários e realização de entrevistas com profissionais de saúde. Discutem-se o contexto fortemente medicalizado do aconselhamento genético no Brasil e a percepção dos médicos sobre suas práticas neste contexto. É discutido também o possível impacto sobre a tomada de decisão das mulheres atendidas em relação a riscos, técnicas, exames e seus desdobramentos.

  11. Identificación de Yarrowia lipolytica (Ascomycota: Hemiascomycetes como contaminante en la obtención de amplificados del gen 28S rRNA de moluscos

    Directory of Open Access Journals (Sweden)

    Jenny Chirinos

    2011-05-01

    Full Text Available En el presente trabajo se identifica una secuencia de DNA no esperada proveniente de los amplificados del gen 28S rRNA de moluscos terrestres. Las extracciones de DNA se realizaron del tejido del pie de caracoles terrestres por el método del CTAB modificado. Las PCRs fueron llevadas a cabo con primers universales para el gen COI e iniciadores diseñados para moluscos, para el marcador 16S rRNA, 28S rRNA y la región ITS-2. Los tamaños aproximados de las bandas de los amplificados de moluscos fueron de 706 pb para el COI, 330 pb para el 16S rRNA, 900 pb para el ITS-2 y 583 pb para el 28S rRNA; un amplificado del último marcador fue de una longitud inesperada, ~340 pb. Las secuencias de DNA fueron comparadas con la base de datos del GenBank mediante el programa BLASTn y la muestra con la banda de tamaño inesperado resultó en un 100% de identidad y cobertura del 99% con el gen 26S rRNA de la levadura Yarrowia lipolytica. El análisis filogenético con Neighbour-Joining y los valores de divergencia confirmaron la identificación, proporcionando resultados que apoyan la ubicación taxonómica de la especie dentro del clado de los Hemiascomycetes.

  12. Estrategias de Corto Plazo de Producción de Semilla Mejorada Genéticamente para la Reforestación en Costa Rica

    OpenAIRE

    Murillo Gamboa, Olman

    2016-01-01

    Se desarrollan los conceptos de estartegia de producción de semilla forestal y el de programa sostenible de mejoramiento genético forestal como base necesaria para afrontar la demanda nacional de semilla para la reforestación. Se presentan las posibles estrategias por utilizar a corto plazo en las condiciones de Costa Rica. Las estrategias desarrolladas son el árbol semillero o árbol plus y elárea semillera. Se describe en cada una de ellas sus caracteríticas, modelo de predicción de la ganan...

  13. Combinación entre Algoritmos Genéticos y Aleatorios para la Programación de Horarios de Clases basado en Ritmos Cognitivos

    OpenAIRE

    Castrillón, Omar D

    2014-01-01

    Se ha diseñado un método basado en algoritmos evolutivos (genéticos y aleatorios) para programar los horarios de clases en una universidad. Esta metodología considera los ritmos cognitivos de los estudiantes que indican que es mejor enseñar algunas asignaturas en intervalos específicos de tiempo. Primero se describen las diferentes técnicas empleadas para desarrollar este problema. Luego se propone una nueva metodología basada en ritmos cognitivos y algoritmos evolutivos, para resolver todas ...

  14. Un método de transformación genética de maíz para conferirle resistencia ulterior a enfermedades virales

    OpenAIRE

    Valdez, Marta; Madriz, Kenneth; Ramírez, Pilar

    2004-01-01

    Se desarrolló un sistema de transformación genética para dos variedades costarricenses de maíz: CR-7 y Diamantes 8843, que permita la transferencia ulterior de genes de origen viral a su genoma, y conferirles resistencia a la enfermedad ocasionada por el virus del rayado fino del maíz (MRFV). El método se basa en el bombardeo de microproyectiles en callos organogénicos derivados de ápices de jóvenes vitrogerminaciones. Por otro lado, se elaboró la construcción molecular pRFcp-bar que contiene...

  15. Haplotype analysis of the HFE gene among populations of Northern Eurasia, in patients with metabolic disorders or stomach cancer, and in long-lived people.

    Science.gov (United States)

    Mikhailova, S V; Babenko, V N; Ivanoshchuk, D E; Gubina, M A; Maksimov, V N; Solovjova, I G; Voevoda, M I

    2016-06-17

    Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients-living now in Western Siberia and having diseases associated with dietary habits and metabolic rate-will allow us to understand the processes of possible selection during settling of the northern part of Asia. Haplotype analysis of Northern Eurasian native and recently settled ethnic groups was performed on polymorphisms rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, rs1572982, rs2794719, rs807209, and rs2032451 of this gene. The CCA haplotype of the rs2071303, rs1800708, and rs1572982 was found to be associated with HLA-A2 (39 %) in Asian populations. Haplotype analysis for the rs1799945, rs1800730, rs1800562, rs2071303, rs1800708, and rs1572982 was performed on Russian patients with some metabolic disorders or stomach cancer and among long-lived people. Decreased frequencies of the TTA haplotype (T in rs2071303, T in rs1800708, and A in rs1572982) were observed in the groups of patients with diseases associated with overweight (fatty liver disease, type 2 diabetes mellitus, or metabolic syndrome + arterial hypertension) as compared with the control sample. We detected significant differences in this haplotype's frequency between the patients with type 2 diabetes mellitus and Russian adolescents, elderly citizens, and long-lived people (χ(2) P value = 0.003, 0.010, and 0.015, respectively). No significant differences in frequencies of the alleles with mutations in coding regions of the HFE gene (C282Y, H63D, and S65C) were detected between the analyzed patients (with stomach cancer, metabolic syndrome, fatty liver disease, or type 2 diabetes mellitus) and the control Caucasoid sample. Monophyletic origin of H63D (rs1799945) was confirmed in Caucasoids and Northern

  16. A influência do genótipo da ECA sobre a aptidão cardiovascular de jovens do sexo masculino moderadamente ativos

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    Jeeser Alves Almeida

    2012-04-01

    Full Text Available FUNDAMENTO: O gene da enzima conversora de angiotensina (gene ECA tem sido amplamente estudado em relação a fenótipos de aptidão cardiorrespiratória, contudo a associação do genótipo da ECA com corridas de meia-distância tem sido pouco investigada. OBJETIVO: O presente estudo investigou a possível influência da enzima conversora de angiotensina (ECA (I/D sobre a aptidão cardiovascular e o desempenho em corridas de meia-distância por parte de brasileiros jovens do sexo masculino. A validade da previsão de VO2max em relação ao genótipo da ECA também foi analisada. MÉTODOS: Um grupo homogêneo de homens jovens moderadamente ativos foi avaliado em um teste de corrida (V1600 m; m.min-1 e em um teste adicional em esteira ergométrica para a determinação de VO2max. Posteriormente, o [(0,177*V1600m + 8.101] VO2max real e previsto foi comparado com os genótipos da ECA. RESULTADOS: O VO2max e V1600m registrados para os genótipos DD, ID e II foram 45,6 (1,8; 51,9 (0,8 e 54,4 (1,0 mL.kg-1.min-1 e 211,2 (8,3; 249,1 (4,3 e 258,6 (5,4 m.min-1, respectivamente e foram significativamente mais baixos para os genótipos DD (p < 0,05. O VO2max real e previsto não diferiram entre si, apesar do genótipo da ECA, mas o nível de concordância entre os métodos de VO2max real e estimado foi menor para o genótipo DD. CONCLUSÃO: Concluiu-se que existe uma possível associação entre o genótipo da ECA, a aptidão cardiovascular e o desempenho em corridas de média distância de jovens do sexo masculino moderadamente ativos e que a precisão da previsão do VO2max também pode ser dependente do genótipo da ECA dos participantes.

  17. Variabilidade genética de genótipos de bananeira (Musa spp submetidos ao estresse salino Genetic variability of banana (Musa spp genotypes subjected to saline stress

    Directory of Open Access Journals (Sweden)

    Eline W. F. Gomes

    2005-06-01

    Full Text Available O Brasil é o segundo maior produtor mundial de bananas, sendo Pernambuco o estado que apresenta maior expansão da cultura na região do perímetro irrigado do Vale do São Francisco em cujas áreas, porém, são freqüentes os problemas de salinização do solo o que se pode tornar um fator limitante para a cultura. A utilização de cultivares tolerantes à salinidade apresenta-se como uma alternativa bastante viável; assim, identificar genótipos que se adaptem a solos salinos da Região Nordeste, é de fundamental importância para os programas de melhoramento. Este trabalho teve por finalidade utilizar marcadores moleculares, obtidos por amplificação de DNA via Reação em Cadeia polimerase (PCR com iniciadores (primers de RAPD, para determinar a variabilidade genética entre dez genótipos de banana (Musa spp: Pacovan, Nanicão, Caipira, FHIA18, Calcuttá, SN/2, Borneo, M-53, Microcarpa e Lidi, correlacionando-os com a tolerância ao estresse salino. Foram testados 25 primers. O iniciador D0142A07 gerou o maior número de loci polimórficos, enquanto o D0142B05 originou o menor. Em geral, o polimorfismo gerado com os marcadores de DNA mostrou que, apesar da base genética estreita, no caso das que são formadas pelo mesmo grupo genômico, os genótipos de bananeira apresentam variabilidade genética relativamente alta. As variedades que apresentaram maior tolerância ao estresse salino, como a Pacovan e SN/2, mostraram-se distantes geneticamente, quando comparadas com as mais sensíveis ao sal, como Calcuttá e Lidi.Brazil is the second lagest banana producer. The State of Pernambuco has presented the greatest expansion of banana cultivation in the irrigated perimeters of the São Francisco Valley. In these areas, however, there are frequent problems with high salt content in the soil, which could turn out to be a major limiting factor to its cultivation. The utilization of cultivars tolerant to saline conditions is a rather viable

  18. Análisis de la Variabilidad Genética entre treinta accesiones de tarwi (Lupinus mutabilis Sweet usando marcadores moleculares ISSR

    Directory of Open Access Journals (Sweden)

    Michelle C. Chirinos-Arias

    2015-01-01

    Full Text Available Con el fin de realizar el análisis de variabilidad genética inter-accesión de treinta accesiones de tarwi (L. mutabilis Sweet pertenecientes al Banco de Germoplasma del Instituto Nacional de Innovación Agraria (INIA. Se extrajo el ADN de 300 plantas, se construyeron bulks, se estandarizó el protocolo de amplificación de los marcadores moleculares Inter Simple Sequence Repeat (ISSR, de los cuales se eligió a los más polimórficos y nítidos para corrida en gel de acrilamida. Encontrándose 255 bandas con 8 iniciadores ISSR. El análisis de la variabilidad genética con estos iniciadores comprobó una alta variabilidad genética de las muestras en estudio. Observándose también un polimorfismo relativamente alto para una especie autógama como L. mutabilis. Finalmente los fenogramas mostraron una relación con la ubicación geográfica, posiblemente debido al flujo génico in situ debido al intercambio o venta de semillas en ferias o mercados aledaños a la zona de colecta.

  19. Divergência genética entre genótipos de alface por meio de marcadores AFLP Genetics divergence among lettuce genotypes by AFLP markers

    Directory of Open Access Journals (Sweden)

    Cristina Soares de Sousa

    2007-01-01

    Full Text Available Considerando a restrita diversidade de espécies disponíveis para nutrir a carência de vitaminas no Brasil, Kerr e colaboradores, desde 1981, vêm desenvolvendo pesquisas para melhoramento genético de hortaliças ricas em vitamina A. Dentre elas, obtiveram uma cultivar de alface, denominada Uberlândia 10.000 com 10.200 UI de vitamina A em 100 gramas de folha fresca. Este trabalho objetivou comparar o grau de divergência genética entre a cultivar Uberlândia 10.000 e seus parentais para avaliar a eficiência da seleção utilizada, por meio da técnica AFLP. Foram utilizados os seguintes genótipos de alface: Maioba, Salad Bowl-Mimosa, Moreninha-de-Uberlândia, Vitória de Santo Antão, Uberlândia 10.000 lisa 8.ª e 9.ª geração e Uberlândia 10.000 crespa 8.ª e 9.ª geração. A técnica AFLP foi eficiente para identificar genótipos muito próximos e para estudos de progênies em alface. O primer PR15 permitiu a separação da forma lisa e crespa com 1,8% de divergência genética e a oitava da nona geração com apenas 0,71%. Com o estudo da filogenia da cultivar pode-se observar que o programa de melhoramento foi desenvolvido com sucesso, pois a cultivar obtida Uberlândia 10.000 possui alto teor de vitamina A e 92% de similaridade com o parental Vitória de Santo Antão. O primer PR11 conseguiu identificar polimorfismo entre cultivares de alta e baixa resistência à septoriose, sugerindo a possibilidade destas bandas estarem relacionadas à resistência.Considering the restricted diversity of species available to counteract vitamin deficiencies in Brazil, Kerr and coworkers have been engaged since 1981, in developing genetic improved garden vegetables rich in vitamin A. One of these vegetables is the lettuce cultivar Uberlândia 10,000, which contains 10,200 UI of vitamin A per 100 grams of fresh leaves. This study compares the genetic diversity between Uberlândia 10,000 and its parental, evaluating selection efficiency through

  20. Estructura genética de un grupo de capibaras, Hydrochoerus hydrochaeris (Rodentia: Hydrocheridae en los Llanos orientales colombianos

    Directory of Open Access Journals (Sweden)

    Adriana Maldonado-Chaparro

    2011-12-01

    Full Text Available Los capibaras son los roedores más grandes del mundo, sin embargo, no se han realizado estudios genético poblacionales exhaustivos con ellos. En el presente trabajo se analizó la estructura genética de una manada de 31 capibaras (Hydrochoerus hydrochaeris muestreada en Hato Corozal, Departamento de Casanare en los Llanos Orientales de Colombia, mediante cinco marcadores microsatelitales. La diversidad genética se determinó en 0.61 y un número promedio de alelos de 5.2, lo cual se puede considerar medio-bajo para este tipo de marcadores. De los cinco marcadores empleados, tres mostraron proporciones genotípicas en concordancia con lo esperado en equilibrio Hardy-Weinberg, mientras que un marcador mostró un exceso significativo de homocigotos y otro un exceso significativo de heterocigotos. No se encontraron diferencias significativas para esos cinco marcadores entre machos y hembras de la manada muestreada. La aplicación de diferentes procedimientos para detectar posibles cambios demográficos históricos (expansiones poblacionales o cuellos de botella mostró claramente que la población analizada ha pasado por un cuello de botella extremadamente fuerte en épocas recientes. La limitada variabilidad genética encontrada y la fuerte evidencia de que la manada estudiada ha pasado por un cuello de botella reciente es probablemente el resultado de la cacería ilegal.Genetic structure of a group of capybaras, Hydrochoerus hydrochaeris (Rodentia: Hydrocheridae in the Colombian Eastern Llanos. The capybaras are the biggest rodents in the world but, however, there are not extensive population genetics studies on them. In the current work, we studied the genetic structure of a troop of 31 capybaras (Hydrochoerus hydrochaeris sampled in Hato Corozal, Casanare Department at the Colombian Eastern Llanos, by means of five microsatellite markers. The gene diversity was 0.61 and the average allele number was 5.2, which is a medium-low level for

  1. Aspectos genético-quantitativos da qualidade da carne em frangos

    Directory of Open Access Journals (Sweden)

    Gaya Leila de Genova

    2006-01-01

    Full Text Available O estudo dos parâmetros genéticos das características de qualidade de carne de aves permite à industria avícola se adequar às exigências da indústria processadora, aumentando sua eficiência, e melhorando a aceitação da carne de frango pelo mercado consumidor. Além disso, por meio do estudo destes parâmetros, valiosas informações sobre a caracterização do fenômeno denominado PSE, que representa a carne pálida, flácida e exsudativa, podem ser obtidas, uma vez que são escassos os estudos a esse respeito em frangos. O conhecimento do comportamento genético e da relação entre os atributos da carne e outras características de interesse em frangos de corte pode favorecer o estabelecimento mais preciso e adequado das estratégias utilizadas nos programas de seleção.

  2. Associação entre polimorfismos genéticos e transtorno bipolar

    Directory of Open Access Journals (Sweden)

    Verônica de Medeiros Alves

    2012-01-01

    Full Text Available Transtorno bipolar (TB é uma doença comum que afeta aproximadamente 1% da população. Apresenta características crônicas e agudas graves, com índices de remissão de baixa e alta prevalência de comorbidades clínicas e psiquiátricas. O objetivo do presente artigo é sintetizar dados de vários artigos que investigaram polimorfismos genéticos associados com TB. Dentre os 129 artigos selecionados, identificaram-se 79 (85,87% genes associados com TB. Essa análise identificou cinco genes que são os mais citados na literatura: CANAC1C, DAOA, TPH2, ANK3 e DISC1. Dos 92 genes identificados nesses artigos, 33 (35,87% não mostraram associação com TB. Essa análise mostrou que, apesar dos avanços recentes com relação ao papel do polimorfismo genético na predisposição para TB, mais pesquisas ainda são necessárias para elucidar sua influência sobre esse transtorno.

  3. ANALISIS GEN HAEMAGGLUTININ PADA VIRUS CAMPAK LIAR

    Directory of Open Access Journals (Sweden)

    Subangkit Subangkit

    2015-05-01

    Full Text Available AbstrakPenyakit Campak disebabkan oleh virus campak yang termasuk genus Morbilivirus dan Family Paramyxoviridae. Penyakit campak masih menjadi masalah kesehatan karena masih ditemukan Kejadian Luar Biasa (KLB di Indonesia. Salah satu penyebab terjadinya KLB tersebut diduga sebagaiakibat perbedaan antigenesitas antara strain vaksin yang digunakan dengan strain virus campak liar yang beredar di Indonesia. Penelitian ini bertujuan mendapatkan gambaran tentang karakteristik genetik gen Haemagglutinin virus campak liar yang ada di Indonesia. Spesimen yang digunakan sebanyak 27 isolat virus penyebab KLB dari 17 propinsi selama periode tahun 2003-2010. Isolat virus dilakukan pemeriksaan secara RT-PCR dan sekuensing dengan metode Sanger. Hasil sekuensing dianalisis dengan menggunakan perangkat lunak Bioedit 7.0 dan MEGA 4.0. Hasil penelitian didapatkan perbedaan 10 asam amino antara virus campak strain vaksin CAM-70 dan virus campak liar pada posisi D416N; K424T; V451M; N455T; V466I; I473T; F476L; Y481S atau Y481N; H495N; G505D. Kesimpulan penelitian ini adalah terdapat perbedaan karakteristik genetik antara virus campak liar di Indonesia berbeda dengan strain virus vaksin CAM-70.Kata kunci : Campak, Analisis Molekuler, Hemagglutinin, CD46AbstractMeasles is caused by virus belonging to the genus Morbilivirus and Family Paramyxoviridae. Measles is still a public health problem because outbreak of measles still found in Indonesia. Outbreak is suspected as a result of differences in antigenicity between vaccine strains used with wild-type measles virus strains circulating in Indonesia. This study aims to get genetic characteristics of wild-type measles virus haemagglutinin gene in Indonesia. The specimens were used 27 viral isolates from 17 provinces period 2003-2010. Viral isolates examined by RT-PCR and sequencing with Sanger method. Sequencing analysis were conducted using Bioedit 7.0 and MEGA 4.0 software. The results showed 10 amino acid differences

  4. Genética e hanseníase

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    Bernardo Beiguelman

    Full Text Available As diferentes linhas de pesquisa utilizadas para investigar a importância dos fatores hereditários humanos na determinação da resistência/suscetibilidade à infecção pelo Mycobacterium leprae foram discutidas no presente trabalho. Uma síntese dessas abordagens permitiu analisar os resultados das investigações sobre associação da hanseníase com polimorfismos genéticos, distribuição familial da hanseníase, prevalência da hanseníase e distância genética, concordância da hanseníase em gêmeos e estudos genéticos sobre a reação de Mitsuda.

  5. Polimorfismos genéticos de aislamientos del género Malassezia obtenidos en Colombia de pacientes con lesión dermatológica y sin ella.

    Directory of Open Access Journals (Sweden)

    Adriana M. Celis

    2005-12-01

    Full Text Available Introducción. Las especies del género Malassezia se consideran levaduras oportunistas emergentes de gran importancia. Han sido asociadas a diferentes patologías dermatológicas y sistémicas de las cuales se aislan una o más especies de este género. El papel de estas levaduras en las enfermedades dermatológicas no se ha aclarado completamente, ya que la Malassezia spp. pertenece a la flora normal de la piel. Objetivo. Buscar marcadores genéticos en los aislamientos de Malassezia spp. que permitan correlacionar las lesiones dermatológicas con las especies aisladas. Materiales y métodos. Se obtuvieron 103 aislamientos de Malassezia spp. a partir de muestras de pacientes con pitiriasis versicolor, dermatitis seborreica, dermatitis seborreica en pacientes positivos para VIH, dermatitis atópica, y de individuos sanos. Para los controles se usaron ocho cepas del Centraalbureau voor Schimmelcultures (CBS, Holanda. El perfil genético se realizó utilizando la técnica de ADN polimórfico amplificado aleatorio (RAPD con tres iniciadores (OPA2, OPA4, OPA13. Los datos obtenidos se analizaron con los programas Diversity Database y SYN-TAX-PC. Resultados. Se observó heterogeneidad genética intraespecífica en Malassezia furfur, Malassezia globosa, Malassezia restricta, Malassezia slooffiae y Malassezia obtusa, mientras que Malassezia sympodialis mostró mayor homogeneidad. Conclusión. No se determinó ningún patrón genético específico mediante la técnica de RAPD para las especies de Malassezia que se pudiera relacionar con la entidad dermatológica implicada.

  6. The Effects of Degraded Digital Instrumentation and Control Systems on Human-system Interfaces and Operator Performance: HFE Review Guidance and Technical Basis

    International Nuclear Information System (INIS)

    O'Hara, J.M.; Gunther, W.; Martinez-Guridi, G.

    2010-01-01

    New and advanced reactors will use integrated digital instrumentation and control (I and C) systems to support operators in their monitoring and control functions. Even though digital systems are typically highly reliable, their potential for degradation or failure could significantly affect operator performance and, consequently, impact plant safety. The U.S. Nuclear Regulatory Commission (NRC) supported this research project to investigate the effects of degraded I and C systems on human performance and plant operations. The objective was to develop human factors engineering (HFE) review guidance addressing the detection and management of degraded digital I and C conditions by plant operators. We reviewed pertinent standards and guidelines, empirical studies, and plant operating experience. In addition, we conducted an evaluation of the potential effects of selected failure modes of the digital feedwater system on human-system interfaces (HSIs) and operator performance. The results indicated that I and C degradations are prevalent in plants employing digital systems and the overall effects on plant behavior can be significant, such as causing a reactor trip or causing equipment to operate unexpectedly. I and C degradations can impact the HSIs used by operators to monitor and control the plant. For example, sensor degradations can make displays difficult to interpret and can sometimes mislead operators by making it appear that a process disturbance has occurred. We used the information obtained as the technical basis upon which to develop HFE review guidance. The guidance addresses the treatment of degraded I and C conditions as part of the design process and the HSI features and functions that support operators to monitor I and C performance and manage I and C degradations when they occur. In addition, we identified topics for future research.

  7. The Effects of Degraded Digital Instrumentation and Control Systems on Human-system Interfaces and Operator Performance: HFE Review Guidance and Technical Basis

    Energy Technology Data Exchange (ETDEWEB)

    O' Hara, J.M.; W. Gunther, G. Martinez-Guridi

    2010-02-26

    New and advanced reactors will use integrated digital instrumentation and control (I&C) systems to support operators in their monitoring and control functions. Even though digital systems are typically highly reliable, their potential for degradation or failure could significantly affect operator performance and, consequently, impact plant safety. The U.S. Nuclear Regulatory Commission (NRC) supported this research project to investigate the effects of degraded I&C systems on human performance and plant operations. The objective was to develop human factors engineering (HFE) review guidance addressing the detection and management of degraded digital I&C conditions by plant operators. We reviewed pertinent standards and guidelines, empirical studies, and plant operating experience. In addition, we conducted an evaluation of the potential effects of selected failure modes of the digital feedwater system on human-system interfaces (HSIs) and operator performance. The results indicated that I&C degradations are prevalent in plants employing digital systems and the overall effects on plant behavior can be significant, such as causing a reactor trip or caus