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Copyright of Boletín Científico Centro de Museos de Historia Natural is the property of Universidad de Caldas and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

El complejo mayor de Histocompatibilidad (MHC del inglés: Major histocompatibility complex) en pollos (Gallus gallus) se encuentra localizado en un micro cromosoma, el 16 del genoma aviar. Así como ocurre en otras especies tiene una fuerte asociación con la resistencia genética a enfermedades. Esta característica multigénica es particularmente deseada para la selección de esta especie, en particular por su relación con el bienestar animal. En este trabajo se pretende revisar los conocimientos sobre el análisis de la variabilidad del MHC-B en pollos y sus metodologías de análisis y una síntesis de los trabajos realizados en pollos Campero INTA

Objective. To determine the genetic structure of drug-resistant strains of Mycobacterium tuberculosis that circulated throughout Peru during the years 2011-2015, by using haplotypes obtained from a line probe assay. Materials and methods. A total of 6589 samples that were admitted to the Instituto Nacional de Salud for routine diagnosis using the GenoType® MTBDRplus v2 assay were analyzed during the study period. Resistant haplotypes were created by concatenating 21 polymorphic sites of the evaluated genes using the line probe assay; and the association analysis was carried out with phenotypes obtained by the 7H10 agar ratio method. Results. The most frequent mutations were: rpoB S531L (55.4%) and rpoB D516V (18.5%) for rifampicin resistance, and katG S315T (59.5%) and inhA c-15t (25.7%) for isoniazid resistance. We obtained 13 representative haplotypes (87.8% of analyzed samples), 6 corresponded to the multidrug-resistant genotype, 4 to the isoniazid mono-resistant genotype and 3 to the rifampicin mono-resistant genotype. Eighteen regions and the province of Callao showed high haplotype diversity; four showed moderate diversity and two showed low diversity. Conclusions. Most regions showed high haplotype diversity; in addition, most drug-resistant strains of Mycobacterium tuberculosis were concentrated in the cities of Lima and Callao. Likewise, drugresistant Mycobacterium tuberculosis strains circulating in Peru mainly contain the genetic markers with the highest prevalence worldwide, which are associated with resistance to rifampicin and isoniazid.

Copyright of Revista Mexicana de Ciencias Agrícolas is the property of Instituto Nacional de Investigaciones Forestales, Agricolas y Pecuarias and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Misiones province has a great diversity of rodents, some of them, such as Calomys tener, have few records and their presence in the province has been widely discussed. The aims of this work were to: a) provide information on a new locality of presence, b) describe morphologically, and c) analyze the molecular variability of cytochrome b of Calomys tener. Based on sampling seasons carried out in 2017 and 2018, four individuals were captured and identified morphologically and molecularly as C. tener. This new records extend the species distribution to the north of the province of Misiones. The sequences of C. tener obtained in this study, together with those available in GenBank from Paraguay, Brazil, Bolivia and Argentina, show that the haplotypes found in Misiones are divergent, suggesting multiple colonization from different geographic areas. [ABSTRACT FROM AUTHOR]

Objective. To determine the genetic structure of drug-resistant strains of Mycobacterium tuberculosis that circulated throughout Peru during the years 2011-2015, by using haplotypes obtained from a line probe assay. Materials and methods. A total of 6589 samples that were admitted to the Instituto Nacional de Salud for routine diagnosis using the GenoType® MTBDRplus v2 assay were analyzed during the study period. Resistant haplotypes were created by concatenating 21 polymorphic sites of the evaluated genes using the line probe assay; and the association analysis was carried out with phenotypes obtained by the 7H10 agar ratio method. Results. The most frequent mutations were: rpoB S531L (55.4%) and rpoB D516V (18.5%) for rifampicin resistance, and katG S315T (59.5%) and inhA c-15t (25.7%) for isoniazid resistance. We obtained 13 representative haplotypes (87.8% of analyzed samples), 6 corresponded to the multidrug-resistant genotype, 4 to the isoniazid mono-resistant genotype and 3 to the rifampicin mono-resistant genotype. Eighteen regions and the province of Callao showed high haplotype diversity; four showed moderate diversity and two showed low diversity. Conclusions. Most regions showed high haplotype diversity; in addition, most drug-resistant strains of Mycobacterium tuberculosis were concentrated in the cities of Lima and Callao. Likewise, drugresistant Mycobacterium tuberculosis strains circulating in Peru mainly contain the genetic markers with the highest prevalence worldwide, which are associated with resistance to rifampicin and isoniazid. [ABSTRACT FROM AUTHOR]

Introduction: Anopheles triannulatus is not incriminated as a vector of malaria transmission in Colombia despite recent reports of infection with Plasmodium spp. in populations related to the northwestern and southeastern lineages. Genetic diversity can delimit information about gene flow and population differentiation in localities with malaria. Objective: To estimate the genetic diversity of An. triannulatus in five municipalities with high and low incidence of malaria in the department of Córdoba. Materials and methods: The entomological collections were done between August and November, 2016, in Tierralta, Puerto Libertador, Montelíbano, Sahagún, and Planeta Rica. We used the COI barcoding fragment as molecular marker. The genetic analysis included the estimation of genetic parameters such as the diversity haplotype, the genetic structure, the gene flow, the Tajima’s D test, the haplotype network, and the phylogenetic relationship. Results: We obtained 148 sequences with a length of 655 nucleotides of the COI gene, from which we derived 44 haplotypes. The H2 and H21 haplotypes were the most frequent in the populations. The values of the Tajima’s D test were negative and not significant (p>0.10). The genetic structure index (FST=0.01427) and the gene flow (Nm=17.27) evidenced no differentiation between sampled populations due to the high exchange of migrants. Using phylogenetic inferences and the haplotype network, we identified one single species without geographic differentiation or lineages in the geographic range studied. Conclusions: The genetic diversity calculated for An. triannulatus in this context indicated stable populations in constant exchange.

Introduction: Obesity and colorectal cancer (CRC) could be linked by adipocytokines, proteins associated with cell proliferation. High level of adipocytokine leptin, through its receptor, promote the development of CRC. Objective: To determine the association between c.326A>G and c.668A>G LEPR gene polymorphisms and CRC. Materials and methods: DNA was extracted from peripheral blood of 147 patients with sporadic CRC and 134 healthy people. The genotypes were obtained by PCR-RFLP and the association was determinated by Odds Ratio (OR) test in the SPSS v10.0 program. Haplotypes frequencies and linkage disequilibrium (LD) were estimated by the Arlequin software v3.5. Results: Both polymorphisms were in Hardy-Weinberg equilibrium. Only the c.326A>G heterozygous genotype revealed an increased risk for CRC development (OR=1.81, 95% CI=1.04-3.16, p=0.04). The AG haplotype showed a significant association with CRC: OR=0.58 and CI=0.35-0.96 (p<0.03), LD between the variants was only evident for patients group (r²=0.36). Conclusion: Our results suggest that heterozygous AG individuals for the c.326A>G LEPR variant have a higher risk for CRC development whereas the AG haplotype (c.326A/c.668G) has a protective effect in the Mexican population. [ABSTRACT FROM AUTHOR]

En los municipios La Victoria, Águila, Obando, Cartago, Zarzal, San Pedro, Cerrito y Palmira del depar-tamento Valle del Cauca; Mercaderes en el Cauca; y Puerto Nariño en el departamento del Amazonas Amazonas, se realizó el análisis de filogenia del murciélago hematófago Desmodus rotundus. Las mues-tras de tejido epitelial fueron tomadas en el patagio del quiróptero, fueron amplificadas por PCR utilizan-do cebadores 16SL y 16SH, se amplificó ADN mitocondrial, y se secuenciaron 50 individuos de murciéla-gos hematófagos. Después de la secuenciación se encontraron ocho haplotipos y se encontró que el más frecuente se presenta en 43 individuos. Se utilizaron dos métodos, máxima verisimilitud y parsimonia. Utilizando el Genbank se revisaron secuencias de marcadores mitocondriales s16 rRNA de Brasil, Vene-zuela y Costa Rica. Se encontró un acercamiento de estos individuos de Costa Rica y Venezuela con murciélagos hematófagos de los departamentos del Valle del Cauca y Cauca, ubicados en el sur occidente de Colombia. Se revisan aspectos genéticos como relaciones filogeográficas entre las poblaciones y se encontró en el estudio que existe una conexión entre los diferentes haplotipos de los clados existentes reflejado en los árboles filogénicos y red de haplotipos, que se formó en varias generaciones producto po-siblemente de migraciones de los murciélagos hematófagos a lo largo de las cordilleras y ríos que atraviesan Colombia.

El objetivo de este estudio fue identificar la frecuencia de haplotipos dentro del cluster de Beta globina presente en pacientes con anemia falciforme en Colombia, establecer la presencia de haplotipos no africanos en esta población, así como verificar variaciones en el patrón de desequilibrio de ligamiento dentro del cluster de Beta globina. Se analizaron 83 individuos con anemia falciforme, los haplotipos se formaron utilizando cinco sitios de restricción dentro del cluster de Beta globina, se estableció la frecuencia de haplotipos, se calculó el grado de desequilibrio de ligamiento entre los sitios de restricción, así como la similitud genética de esta población con otra de afectados en América. Los haplotipos más frecuentes en la población fueron Benín ( 35,1 %) y Bantú (26, 5 %), ambos africanos. Sin embargo, haplotipos presentes en poblaciones indígenas americanas y europeas alcanzaron frecuencias entre el 2 – 10 %, así como haplotipos que no han sido reportados en otras poblaciones. Los sitios de restricción presentaron bajo o nulo desequilibrio de ligamiento entre ellos. Al compararse con otras poblaciones, la población colombiana presentó mayor similitud con la población de Venezuela en donde Benin y Bantú son también predominantes. Nuestros resultados muestran que el mestizaje ha facilitado el paso de la mutación para la anemia falciforme a un contexto genético no africano (amerindio y europeo). Además, el mestizaje también ha alterado el patrón de desequilibrio de ligamiento dentro del cluster de Beta globina generando modificaciones que pueden tener influencia en estudios de asociación dentro de esta población de afectados.

Jatrophacurcas L.es una especie nativa de América tropical; en nuestro país se ha venido utilizando principalmente como medicinal y alimenticia desde la época prehispánica. Actualmente el aceite extraído de sus semillas ha adquirido importancia internacional ya que puede ser transformado a biodiesel. El conocimiento que existe sobre la variabilidad genética de la especie es escaso. Un gen utilizado con éxito para el estudio de patrones de variación y origen de la yuca (ManihotesculentaL.) y del caco (Theobromacacao L.) es el gen nuclearG3pdh(Gliceraldehído3 fosfato deshidrogenasa) involucrado en la fotosíntesis. Con base en ello, en este trabajo se exploró la variabilidad del gen G3pdh en individuos deJ. curcasprovenientes de 15 poblaciones de los estados de Veracruz, Campeche, Yucatán y Quintana Roo. Para obtener el gen G3pdh completo de alrededor de 1000 pares de bases, se amplificó utilizando losprimersdiseñados porStrandet al. (1997) y los dosprimersinternos reverse diseñados porOlsenySchaal(1999) para obtener segmentos más cortos, de 600 y 800 pares de bases aproximadamente. Por primera vez se amplificaron aproximadamente 500pby los resultados demuestran que el gen G3pdh es útil para analizar la variabilidad deJ. curcas, y con un importante potencial para evaluar la distribución y evolución de sus poblaciones en México, conocer las relaciones ancestro descendiente a nivel poblacional y explicar las causas de la distribución de los distintoshaplotipos.

The objective of this study was identify the frequency of Beta globin cluster's haplotypes present in sickle cell anemia patients in Colombia, to establish the presence of non-African haplotypes in this population, to verify variations in the pattern of linkage disequilibrium in the Beta globin cluster. It was analyzed 83 individuals affected with sickle cell anemia, the haplotypes were formed using five restriction sites into Beta globin cluster. The haplotype frequency was calculated, as well as the linkage disequilibrium among restriction sites, the genetic similarity among Colombian population and other affected American population was determined. The haplotypes most frequent were Benin (35.1 %) and Bantu (26.5 %), both African. However, haplotypes present in American indigenous and European populations got frequency between two to ten percent, as well as haplotypes not reported in others population were observed in our population. The restriction sites showed low or null linkage disequilibrium. When compare with other populations, the Colombian population showed higher similarity with Venezuelan population where Benin and Bantu are predominant too. Our results showed that admixture has facilitated the move of sickle cell mutation to a non-African genetic context (Amerindian and European). Further, the admixture has also modified the pattern of linkage disequilibrium into the Beta globin cluster generating modifications that could have influence in association studies in this affected population.The objective of this study was identify the frequency of Beta globin cluster's haplotypes present in sickle cell anemia patients in Colombia, to establish the presence of non-African haplotypes in this population, to verify variations in the pattern of linkage disequilibrium in the Beta globin cluster. It was analyzed 83 individuals affected with sickle cell anemia, the haplotypes were formed using five restriction sites into Beta globin cluster. The haplotype frequency was calculated, as well as the linkage disequilibrium among restriction sites, the genetic similarity among Colombian population and other affected American population was determined. The haplotypes most frequent were Benin (35.1 %) and Bantu (26.5 %), both African. However, haplotypes present in American indigenous and European populations got frequency between two to ten percent, as well as haplotypes not reported in others population were observed in our population. The restriction sites showed low or null linkage disequilibrium. When compare with other populations, the Colombian population showed higher similarity with Venezuelan population where Benin and Bantu are predominant too. Our results showed that admixture has facilitated the move of sickle cell mutation to a non-African genetic context (Amerindian and European). Further, the admixture has also modified the pattern of linkage disequilibrium into the Beta globin cluster generating modifications that could have influence in association studies in this affected population. [ABSTRACT FROM AUTHOR]

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

La diversidad de los genes del complejo principal de histocompatibilidad (MHC) es clave en su función en la presentación de antígenos en el sistema inmune. La tipificación indirecta basada en microsatélites (STR) del MHC aporta información de la variabilidad genética y de la estructura poblacional y es una estrategia para conocer procesos selectivos y evolutivos. Con el fin de caracterizar una población de caballos de raza Árabe, se identificaron los haplotipos del MHC sobre la base de tres microsatélites (UM011, DRB2-STR2 y COR112) abarcando una región de ~1Mpb. El ADN genómico se extrajo de sangre y pelo de 30 caballos de cinco haras de la provincia de Buenos Aires y los STRs se amplificaron con cebadores fluorescentes para tipificar en secuenciador automático. Se estimaron parámetros poblacionales y de diversidad y la detección de haplotipos se realizó mediante análisis de segregación y con el programa de reconstrucción de haplotipos PHASE. Se reconocieron 24 haplotipos; entre ellos, 12 se verificaron por segregación en los registros de pedigree del Stud Book. Los resultados obtenidos demostraron la existencia de ligamiento con alelos conocidos de genes de clase II del equine leukocyte antigen (ELA) y la cantidad de haplotipos identificada permitió expandir la valoración de la diversidad del MHC equino. Esta metodología constituye una herramienta de utilidad y un método alternativo para la tipificación del MHC en linajes de caballos y en estudios poblacionales relacionados con la inmunidad.

O objetivo deste trabalho foi avaliar, por meio de marcadores SSR, a diversidade genética de Xylella fastidiosa no Estado da Bahia. Foram estudadas duas das principais regiões produtoras de citros no Estado, o Litoral Norte e o Recôncavo Sul. Para fins comparativos, utilizaram-se dez amostras provenientes do Estado de São Paulo. Foram empregados os seguintes iniciadores: ASSR20, OSSR9, OSSR17, CSSR4, CSSR12 e CSSR20, dos quais os quatro últimos permitiram identificar 22 loci polimórficos. As populações de X. fastidiosa presentes em citros no Estado da Bahia apresentam elevada diversidade genética, com base nos marcadores SSR, com pools gênicos distintos e agrupamento geográfico. No Litoral Norte, as populações do isolado apresentam maior diversidade genética do que as da região do Recôncavo Sul da Bahia.

Introduction: Variants in genes encoding for HIV-1 co-receptors and their natural ligands have been individually associated to natural resistance to HIV-1 infection. However, the simultaneous presence of these variants has been poorly studied. Objective: To evaluate the association of single and multilocus haplotypes in genes coding for the viral co-receptors CCR5 and CCR2, and their ligands CCL3 and CCL5, with resistance or susceptibility to HIV-1 infection. Materials and methods: Nine variants in CCR5-CCR2, two SNPs in CCL3 and two in CCL5 were genotyped by PCR-RFLP in 35 seropositive (cases) and 49 HIV-1-exposed seronegative Colombian individuals (controls). Haplotypes were inferred using the Arlequin software, and their frequency in individual or combined loci was compared between cases and controls by the chi-square test. A p' value <0.05 after Bonferroni correction was considered significant. Results: Homozygosis of the human haplogroup (HH) E was absent in controls and frequent in cases, showing a tendency to susceptibility. The haplotypes C-C and T-T in CCL3 were associated with susceptibility (p'=0.016) and resistance (p'<0.0001) to HIV-1 infection, respectively. Finally, in multilocus analysis, the haplotype combinations formed by HHC in CCR5-CCR2, T-T in CCL3 and G-C in CCL5 were associated with resistance (p'=0.006). Conclusion: Our results suggest that specific combinations of variants in genes from the same signaling pathway can define an HIV-1 resistant phenotype. Despite our small sample size, our statistically significant associations suggest strong effects; however, these results should be further validated in larger cohorts. [ABSTRACT FROM AUTHOR]

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Deforestation causes fragmentation of habitats, which in turn affects the composition, abundance and demography of species, and therefore the population isolation of many species. The impacts of fragmentation will depend on the responsiveness of the species to disturbances in their habitat, and the configuration and structure of landscape. In some populations, habitat fragmentation can cause long-term population isolation by the reduction in population size and the weakening of relations between individuals, even in highly mobile species like bats. In Mexico, A. jamaicensis is the most studied bat; however, few studies focused on the knowledge of the impacts of habitat modification in its diversity and genetic structure. Therefore, the objective of this study was to evaluate the diversity, structure and genetic differentiation, and analyze demographic history of A. jamaicensis in two different habitats, using a 396 bp fragment of the mitochondrial Dloop region. Haplotype network revealed 34 unique haplotypes of 34 individuals analyzed. Haplotype diversity was high (h = 1) for both populations, and nucleotide diversity was relatively low (< 0.03). The analysis of the distribution of pairwise differences between sequences and negative values of statistical tests based on neutrality suggest a process of recent and sudden demographic expansion of A. jamaicensis. A moderate genetic differentiation points to the existence of genetic structure of A. jamaicensis. [ABSTRACT FROM AUTHOR]

Los polimorfismos del ADN mitocondrial son herramientas en el estudio comparativo de poblaciones modernas y antiguas. Entre los más usados están los haplotipos mitocondriales basados en RFLP (polimorfismo de longitud de fragmentos de restricción) y un sistema de inserción /deleción. El presente estudio establece la frecuencia de estos haplotipos y compara un total de 144 individuos representativos de las islas Taquile y Amantaní (lengua quechua) y de las islas de Los Uros y Anapia (lengua aymara) del lago Titicaca, Perú. Nuestros resultados revelan la predominancia del haplotipo B1: 100% en Taquile (n=57); 88,6% en Amantaní (n=35); 75% en Los Uros (n=28) y 87,5% en Anapia (n=24), siendo las frecuencias más altas registradas en el mundo. Otros haplotipos se observan en menor proporción: 17,9% de A2 y 7,1% de D1 en Los Uros; 11,4% de la variante C1 en Amantaní; 4,2% de cada haplotipo C1, C2 y D1 en Anapia. La alta frecuencia de B1 indica que las poblaciones de Taquile, Amantaní y Anapia provienen de un grupo fundador reducido. Aunque hay afinidad entre las poblaciones aymaras de Anapia y Los Uros; la proporción de algunos alelos en los últimos, sugiere la persistencia de un acervo genético uru en contraposición a la idea de su extinción.

Con el objetivo de establecer la variabilidad genética de Aedes aegypti determinada por el análisis del gen mitocondrial ND4, se analizaron 51 especímenes de Ae. aegypti en once regiones endémicas para dengue en el Perú. La variabilidad genética se determinó mediante la amplificación y secuenciación de un fragmento de 336 pares de bases del gen mitocondrial ND4. El análisis de filogenia intraespecífica se realizó con el programa Network Ver. 4.6.10; y el análisis filogenético, con el método de distancia Neighbor Joining. Se identificó la presencia de cinco haplotipos de Ae. aegypti agrupados en dos linajes: el primero agrupa a los haplotipos 1, 3 y 5 y el segundo agrupa los haplotipos 2 y 4, se muestra además la distribución geográfica de cada uno de los haplotipos encontrados. Se concluye que esta variabilidad se debe tanto a la migración activa de este vector como a la migración pasiva mediada por la actividad humana.

Introduction: the MYO9B gene contributes to the maintenance of the intestinal barrier and it has been postulated as a risk factor of celiac disease (CD). The objective of this study was to compare the frequency and association rs2305764, rs2305767and rs1457092 MYO09B polymorphisms in pediatric CD patients from Chile and Argentina. Patients and methods: the study was made in 104 CD pediatric patients (Chilean and Argentineans) and 104 controls subjects. MYO9B gene polymorphisms were analyzed by Taqman allelic probes. We evaluated the Hardy-Weinberg equilibrium by means of Chi-square and compared the haplotypes distribution using Fisher test. Results: SNPs rs2305767 and rs1457092 were associated with celiac disease (CD); TT genotype in rs2305767 would be a protective factor (p < 0.000, OR = 0.19 CI 0.1-0.4) and the CT genotype would be a risk factor (p < 0.0001, OR = 4.9 CI 2.2 to 11.3). CC genotype in rs1457092 also showed a protective effect for celiac (p < 0.000, OR = 0.07 CI 0.0 to 0.3). Conclusion: our findings suggest that genetic variation MYO9B gene is associated with CD, as a protective or a risk factor depending on the polymorphism studied.Introducción: el gen miosina IX B (MYO9B) participa en el mantenimiento de la barrera intestinal y se postula que puede aportar riesgo para desarrollar enfermedad celiaca (EC). El objetivo de este estudio fue comparar la frecuencia y la asociación de los polimorfismos rs 2305764, rs 2305767 y rs 1457092 del gen MYO9B en pacientes pediátricos con EC procedentes de Chile y Argentina. Pacientes y métodos: el estudio se realizó en 104 pacientes pediátricos con EC (chilenos y argentinos) y en 104 sujetos controles. El análisis de los polimorfismos del gen MYO9B se realizó mediante ensayos Taqman de discriminación alélica. Se evalúo equilibrio de Hardy-Weinberg mediante Chi-cuadrado y comparación de haplotipos según prueba de Fisher. Resultados: los polimorfismos de un solo nucleótido (SNPs) rs2305767 y rs1457092 mostraron asociación con la EC. El genotipo TT del rs2305767 sería un factor protector (p < 0,0001, OR = 0,19 IC 0,1-0,4) mientras que el genotipo CT sería un factor de riesgo (p < 0,0001, OR = 4,9 IC 2,2-11,3). En el rs1457092, el genotipo CC resultó también un factor protector frente a esta enfermedad (p < 0,0001, OR = 0,07 IC 0,0-0,3). Conclusión: nuestros hallazgos sugieren que la variación genética del gen MYO9B estaría asociada a la EC en este grupo de pacientes, constituyendo un factor tanto de protección como a susceptibilidad dependiendo del polimorfismo en cuestión.

El jaguaroundi, a pesar de su amplia distribución neotropical, es uno de los felinos menos estudiados del continente y se carece de estudios genéticos sobre la especie. Para el estado de Michoacán ha existido la sospecha de su presencia y no obstante que sólo se tenía un registro del año 1970, los mapas de distribución de la especie en México incluyen al estado. Combinando métodos de campo (trampas cámara, recolección de campo, transectos) y genotipificación molecular, obtuvimos evidencia fotográfica, biológica y genética que confirma la presencia actual de jaguaroundi (Puma yagouaroundi) en 3 regiones del estado de Michoacán, México. Se obtuvieron 11 registros fotográficos en 7 localidades con bosque tropical y 7 de estos registros, revelaron que la especie está activa principalmente por la tarde, que existen 2 fases de pelaje, predominando la fase clara y que se reproduce en el estado. Con base en las distancias e independencia entre registros de los municipios de Arteaga y Lázaro Cárdenas, se plantea la hipótesis de que la distribución continúa a lo largo de la sierra Madre del Sur y la costa del Pacífico de Michoacán, aunque se desconoce si hay conectividad hacia la depresión del Balsas. Se obtuvieron 2 secuencias de 1089 y 1096 pb del gen de citocromo b que actualmente son las más largas que se han obtenido para la especie en México y el norte del continente. Las secuencias indican que hay 2 haplotipos distintos. La presencia de la especie en 3 regiones y los 2 haplotipos permiten suponer que en Michoacán puede contar con importante diversidad genética, aunque hace falta ampliar el tamaño de muestra para confirmarlo. Las secuencias obtenidas permitirán la comparación con individuos de otras regiones del país para conocer mejor la variabilidad genética en la especie y auxiliarán en la identificación de poblaciones para conservación.The jaguaroundi is one of the least studied felids on the American continent, despite its wide neotropical distribution. Genetic studies concerning the species are also inexistent. For the state of Michoacán, it has always been assumed as present, since the distribution maps for the species in Mexico include the state, but only one record existed from 1970. Combining survey methods (camera traps, skulls and tissue found in the field, and transects) and molecular genotyping, we obtained photographic, biological and genetic evidence that confirms the actual presence of the jaguaroundi (Puma yagouaroundi) in 3 regions of Michoacán, Mexico. Eleven records were obtained from 7 localities that present tropical forests. Seven photographic records revealed that the species main activity period is during the afternoon, that both pelage phases occur in the state with a greater proportion in the clear pelage phase, and that breeding activity occurs in the state. Based on the distance and independence among Arteaga and Lázaro Cárdenas records, we hypothesize a continuous distribution of a population along the Sierra Madre del Sur and Pacific coast of Michoacán. We are unaware if a continuous distribution occurs as well along the Balsas basin. 1 089 and 1 096 pb cytochrome b gene sequences were obtained and constitute the longest sequences reported for the species in Mexico and to the north of the continent. The sequences also revealed the presence of 2 distinct haplotypes. The presence of species in 3 regions and the presence of 2 haplotypes allow us to hipothezise that in Michoacán the species may possess important genetic diversity, although a greater sample size is required for confirmation. The sequences obtained will allow the comparison with individuals from other regions of the country in order to increase the knowledge on the species genetic variability, and will provide support for the identification of populations of conservation interest.

El Hartón del Valle (HV),es una raza adaptada a las condiciones del Valle del Cauca(Colombia) que está catalogada como “vulnerable” y cuya población ha descendido drásticamente en los últimos dos años. Objetivo: debido al futuro incierto y a la importancia como recurso potencial en la seguridad alimentaria regional se abordó el estudio de la diversidad, la estructura genética y la ancestría del HV, mediante ADN mitocondrial (ADNmt). Métodos: se amplificó y secuenció un fragmento de 350 pb en 72 animales HV, provenientes de nueve poblaciones y de controles de las razas Brahman y Holstein. Para analizar la ancestría las secuencias fueron comparadas con 560 secuencias de 50 razas Bos taurus y Bos indicus, depositadas en el GenBank. Resultados: de acuerdo con su origen español, se encontró una marcada influencia del ADNmt europeo (91.7%) y baja participación de taurinos de origen africano (5.5%) y del cercano Oriente (2.7%). La diversidad haplotípica promedio fue 0.65 ± 0.05. El hato más antiguo fue el único que mostró los tres linajes mitocondriales, sin embargo, este ha sido liquidado recientemente. Se observó proximidad entre el HV con las razas colombianas Romosinuano y Costeño con Cuernos. La comparación con las secuencias depositadas en el GenBank con diferentes razas reveló la presencia de 37 haplotipos, de los cuales siete fueron únicos en el HV. Conclusiones: las razas ibéricas más cercanas al HV fueron: Tudanca, Rubia Gallega, Negra Serrana, Murciana, Pajuna, Avileña, Garvonesa y Mertolenga. El árbol filogenético confirmó la ancestralidad ibérica y la influencia africana en las razas criollas de América Latina.O Hartón del Valle (HV) é uma raça adaptada às condições da região pertencente ao departamento do Valle del Cauca (Colombia). A raça está catalogada como vulnerável já que sua população tem sido reduzida drasticamente nos últimos dois anos. Objetivo: devido a incerteza no futuro da raça e a sua importancia como recurso potencial na segurança alimentaria regional, abordou-se o estudo da diversidade, a estrutura genética e a ancestralidade do gado HV, utilizando DNA mitocondrial (mtDNA). Métodos: para isto, se amplificou e sequenciou um fragmento de 350 pares de bases em 72 animais provenientes de nove populações e também de controles das raças Brahman e Holandesa. Para analizar a ancestralidade das sequências, estas foram comparadas com outras 560 de 50 raças Bos taurus y Bos indicus depositadas no genebank. Resultados: de acordo com sua origem espanhola, foi encontrada uma marcada influência do DNA mitocondrial europeu (91.7%), e baixa participação de taurinos de origem africana (5.5%) e do Oriente Próximo (2.7%). A média da diversidade haplotípica foi de 0.65 ± 0.05. A população de gado HV mais antiga foi a única que apresentou as três linhagens mitocondriais encontradas; embora, esta população foi terminada recentemente. Observou-se também proximidade do gado HV com as raças colombianas da região Caribe, Romosinuano e Costeño con Cuernos. A comparação com as sequências depositadas no genebank com diferentes raças revelou a presença de 37 haplotipos, dos quais sete foram únicos no HV. Conclusões: as raças ibéricas mais aproximadas do HV foram: Tudanca, Rubia Gallega, Negra Serrana, Murciana, Pajuna, Avileña Garvonesa e Mertolenga. A árvore filogenética confirmou sua ancestralidade ibérica e a influência africana nas raças crioulas da América Latina.The Hartón del Valle(HV)cattleisa Criollo breed of Spanish descent that has adapted to the conditionsof the Cauca valley (Colombia). This breed is currently listed as “vulnerable” because its population has dramatically declined in the last two years. Prompted by the uncertain future of this breed and its importance as a potential resource of valuable genes. Objective: this study addressed the diversity, genetic structure and ancestry of HV cattle using mitochondrial DNA (mtDNA). Methods: a 350-bp fragment was amplified and sequenced from 72 HV animals in 9 separate farms and from animals of Brahman and Holstein breeds. To analyze the breed's ancestry, the sequences were compared with 560 sequences available in the GenBank, representing 50 Bos taurus and Bos indicus breeds. Results: in accordance with the Spanish origin of the HV breed, there was a high representation of European mtDNA (91.7%) and a low representation of African (5.5%) and Middle Eastern mtDNA (2.7%). The average haplotype diversity was 0.65 ± 0.05. The farm with the oldest ancestry was the only population in which three mitochondrial lineages were observed; unfortunately, it was recently depopulated. Proximity was observed between HV and two Columbian breeds, the Romosinuano and Costeño con Cuernos. A comparative analysis with the sequences deposited in the GenBank from numerous breeds revealed the presence of 37 haplotypes, seven of which were unique to HV. Conclusions: the following Iberian breeds were found to be most closely related to HV: Tudanca, Rubia Gallega, Negra Serrana, Murciana, Pajuna, Avileña, Garvonesa and Mertolenga. Phylogenetic analysis confirmed the Iberian ancestry and some African influence on this Latin American Criollo breed.

OBJECTIVE: To describe clinical events of sickle cell disease and the correlation with β-globin haplotypes and α-thalassemia in under 6-year-old children. METHODS: A retrospective study was conducted of under 6-year-old children from the neonatal screening program in Rio de Janeiro. Forty-eight male and 48 female children were enrolled in this study, 79 with sickle cell anemia and 17 with hemoglobin SC. The mean age was 29.9 (standard deviation = 20.9) months, 62 (16.2 ± 8.6) were aged between 0-3 years old and 34 (54.9 ± 11.3) were from 3-6 years old. Painful events, acute splenic sequestration, hemolytic crises, hand-foot and acute chest syndromes and infections were evaluated. RESULTS: The events were more frequent in under 3-year-old children, 94% of children had at least one episode. Infection was the most common event affecting 88.5% of children. Acute splenic sequestration took place earlier, while painful crises and acute chest syndromes in under 6-year-old children. Thal-α 3.7 was observed in 20.9% of cases. Bantu was the most frequent haplotype found, followed by Benin. No correlation was observed between clinical events and β-globin haplotypes. Children with sickle cell anemia and α-thalassemia have less infectious events. No correlation was found among these polymorphisms and clinical events, however, the majority of children with Bantu/Bantu and without α-thalassemia had more clinical events.OBJETIVO: Avaliar a expressão clínica da anemia falciforme (AF) e sua relação com os haplótipos da globina beta e talassemia alfa (Tal) em crianças na primeira e segunda infâncias. MÉTODOS: Foi realizado um estudo descritivo e retrospectivo de série de casos em crianças na primeira e segunda infâncias provenientes da triagem neonatal do Rio de Janeiro. Um total de 96 crianças, 79 com AF e 17 com HbSC, 48 homens e 48 mulheres, média de idade de 29,9 (DP+/-20,9) meses, sendo 62 (16,2+/-8,6) na primeira e 34 (54,9+/-11,3) na segunda infância. Foram avaliados: crises dolorosas (CD), de sequestro esplênico (SE) e hemolítica (CH), síndromes mão-pé (SMP) e torácica aguda (STA) e infecções. RESULTADOS: Os eventos foram mais frequentes na primeira infância; 94% das crianças apresentaram ao menos um episódio. Infecção foi o evento mais frequente, acometendo 88,5% das crianças, SE ocorreu mais na primeira infância, enquanto CD e STA mais na segunda. A Tal alfa 3.7 foi observada em 20,9% dos casos. O haplótipo mais frequente foi o Bantu (73,7%), seguido de Benin (23,0%). Não foi observada associação entre eventos clínicos e haplótipos da globina. Crianças com AF e Tal apresentaram menos eventos infecciosos. Não foi possível associar os polimorfismos com a expressão clínica, porém, a maioria das crianças Bantu/Bantu e sem Tal apresentou mais eventos clínicos.

OBJECTIVE: A substantial body of evidence suggests that obsessive-compulsive disorder has a genetic component, and substantial candidate genes for the disorder have been investigated through association analyses. A particular emphasis has been placed on genes related to the serotonergic system, which is likely to play an important role in the pathogenesis of obsessive-compulsive disorder. The gene for tryptophan hydroxylase 2, which is a rate limiting enzyme in serotonin synthesis, is considered an important candidate gene associated with psychiatric disorders. METHOD: Our sample consisted of 321 subjects (107 diagnosed with obsessive-compulsive disorder and 214 healthy controls), which were genotyped for eight tagSNPs (rs4448731, rs4565946, rs11179000, rs7955501, rs10506645, rs4760820, rs1487275 and rs10879357) covering the entire human tryptophan hydroxylase 2 gene. Statistical analyses were performed using UNPHASED, version 3.0.12, and Haploview®. RESULTS: Single markers, genotype analysis did not show a significant genetic association with obsessive-compulsive disorder. A significant association between the T-C-T (rs4448731, rs4565946, rs10506645) and C-A-T (rs4565946, rs7955501, rs10506645) haplotypes and obsessive-compulsive disorder was observed, as well as a strong linkage disequilibrium between SNPs rs4448731 and rs4565946, and SNPs rs10506645 and 4760820. DISCUSSION: Our research has not demonstrated the existence of associations between the eight SNPs of TPH2 and obsessive-compulsive disorder. However, two LD and two haplotypes areas were demonstrated, thus suggesting that more studies in TPH2 are needed to investigate the role of tryptophan hydroxylase 2 variants in obsessive-compulsive disorder.OBJETIVO: Diversos estudos demonstram que o transtorno obsessivo-compulsivo apresenta considerável contribuição genética, com diversos genes candidatos tendo sido estudados por meio de estudos de associação. Como alterações do sistema serotonérgico estão associadas ao transtorno obsessivo-compulsivo, o gene da triptofano hidroxilase 2, enzima limitante da síntese da serotonina, é plausível candidato para estudos. MÉTODO: Nossa amostra é composta de 321 sujeitos (107 pacientes com transtorno obsessivo-compulsivo e 214 controles) e investigamos oito tagSNPs (rs4448731, rs4565946, rs11179000, rs7955501, rs10506645, rs4760820, rs1487275 e rs10879357) do gene da triptofano hidroxilase 2. Análise estatística foi realizada com os programas UNPHASED e Haploview. RESULTADOS: Análise de frequência alélica e genotípica entre casos e controles não evidenciaram diferenças estatisticamente significativas. No entanto, observamos maior prevalência dos haplótipos T-C-T (rs4448731, rs4565946, rs10506645) e C-A-T (rs4565946, rs7955501, rs10506645) entre os pacientes, assim como duas regiões com importantes desequilíbrios de ligação (SNPs rs4448731 e rs4565946; SNPs rs10506645 e 4760820). DISCUSSÃO: Nossos achados não demonstraram uma associação entre os SNPs do gene da TPH2 e o transtorno obsessivo-compulsivo, porém mais estudos são necessários, já que fortes desequilíbrios de ligação foram demonstrados, assim como dois haplótipos.

From the Phytophthora infestans collection of the Universidad Nacional de Colombia, the isolates collected in different locations in Antioquia, Colombia between 1994 and 2000 were evaluated. These isolates were obtained from late blight lessons in different hosts. In 2000, these isolates were characterized by mating type, mitochondrial haplotype and virulence races. All isolates were of the A1 mating type and two mitochondrial haplotypes were identified: IIa, present in isolates from all the hosts tested, and Ib present only in isolates from tomato and water cucumber (Solanum muricatum). The Antioquia population of P. infestans showed a large complexity of virulence factors (10 out 11), especially those isolates collected from potato, while the tomato population was less complex. The A1 mating type and the mitochondrial haplotype IIa has been associated with the EC1 population that possibly is replacing the US1 population.De la colección de Phytophthora infestans de la Universidad Nacional de Colombia, se evaluaron aquellos aislamientos provenientes de diferentes localidades de Antioquia, Colombia entre 1994 y 2000. Dichos aislamientos fueron obtenidos de lesiones de tizón tardío en diferentes hospederos. En el año 2000 se caracterizaron por el tipo de apareamiento, haplotipo mitocondrial y razas de virulencia. Todos los aislamientos correspondieron al tipo de apareamiento A1 y se presentaron dos haplotipos mitocondriales: IIa, en aislamientos de todos los hospederos evaluados, y Ib solamente en aislamientos colectados de tomate y pepino de agua (Solanum muricatum). La población antioqueña de P. infestans presenta una amplia complejidad de factores de virulencia (10 de 11), especialmente para los aislamientos colectados de papa, mientras que la población de tomate fue menos compleja. El tipo de apareamiento A1 y el haplotipo mitocondrial IIa han sido asociados a la población EC1 que posiblemente está desplazando la población US1.

Os haplótipos ligados ao gene da βS-globina foram analisados em uma amostra de 68 cromossomos de pacientes de Fortaleza, capital do Ceará, com anemia falciforme (AF), com a finalidade de fornecer informações sobre a distribuição das frequências dos haplótipos, contribuindo para o estudo das origens da formação étnica da população cearense. A distribuição dos haplótipos do gene da βS-globina foi 66,2% do tipo Bantu, 22% do Benin e 11,8% do atípico. Houve diferença estatisticamente significativa entre o presente estudo e os resultados de outros pesquisadores no Ceará. A distribuição das frequências dos haplótipos do gene da βS-globina no presente estudo está condizente com a história da formação da população brasileira. Conforme dados históricos sobre as origens da população negra trazida ao Ceará, o haplótipo Bantu seria o mais prevalente, seguido pelo Benin e Senegal. Estes resultados são relevantes para o estudo das rotas de tráfico dos escravos no Brasil e para entendermos as origens étnicas da população brasileira.In a sample of 68 chromosomes from sickle cell anemia patients from the population of Fortaleza, capital of Ceará State - Brazil, the haplotypes connected with βS-globin gene were analyzed with the aim to provide further information on haplotype frequency distribution, which ultimately contributed to the investigation into the ethnic origins of the state's population. The haplotype distribution of βS-globin gene was 66.2% Bantu type, 22% Benin type and 11.8% atypical. There was a significant statistical difference between the results of the present study and those achieved by other researchers in Ceará. The distribution of haplotype frequencies of βS-globin gene in the present study is consistent with the history of the Brazilian population origins. According to historical data on the origins of the slave population brought to Ceará State, Bantu haplotype would be the most prevalent, followed by Benin and Senegal. These results are relevant to the study of the slave traffic routes in Brazil and to understand the ethnic origins of Brazilian population.

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Objective: To investigate the epidemiology of sickle cell disease (SCD) and determinants of knowledge, attitudes and practices (KAP) towards SCD in western Kordofan State, Sudan.Methods: A community-based, descriptive, cross-sectional study was conducted in three towns. Three hundred and seventy-two households were polled, and blood samples for haemoglobin phenotyping were collected from 1116 individuals. Sociodemographic, socio-economic and KAP data were collected using investigator-administered questionnaires. Descriptive, frequency distribution and multiple regression analyses were performed.Results: About 50.9% of the study population were Misseriya tribes. Consanguineous marriages were reported by 67.5% of the households. The highest percentage of homozygous SCD was 2.8% among children under 5 years of age. About 24.9% were carriers of HbS allele (HbAS). HbS allele frequency was highest in children aged 5-11 years (18.3%, CI: 13.7-22.9%) and lowest in males >15 years old (12.0%, CI: 6.1-17.9%). The average HbS frequency across all age groups was 14.5% (95% CI: 12.2-16.8%). The most frequent β-globin gene cluster haplotype was the Cameroon (30.8%), followed by the Benin (21.8%), the Senegal (12.8%) and the Bantu (2.2%) haplotypes. About 17.0% of all-cause child deaths were due to SCD. The estimated change in log odds of having the SS genotype per year increase in age was (-) 0.0058 (95% CI -0.0359, 0.0242). This represents a non-statistically significant 2.9% increase in 5-year mortality for individuals with the SS genotype relative to those with AS and AA genotypes. About 46.9% of the households had poor knowledge, 26.1% had satisfactory knowledge, and 26.9% had good knowledge about sickle cell disease. Mothers' and fathers' educational levels were significant predictors of good knowledge about SCD (P < 0.05). About 48.0% had a satisfactory attitude towards sickle cell disease while 30.7% had poor attitude and only 21.3 showed good attitudes. Poor knowledge about SCD and low socio-economic status were the strongest positive predictors of poor attitude and practices towards SCD (P < 0.01).Conclusions: Sickle cell disease is a major health problem in West Kordofan, Sudan. Knowledge, attitude and practices towards the disease are not satisfactory. The development of public health programs is highly recommended to control and manage SCD in western parts of Sudan. [ABSTRACT FROM AUTHOR]

Phylogenetic analyses of the hematophagous bat Desmodus rotundus were performed in villages belonging to Valle del Cauca, Cauca and Amazonas regions. Samples were mainly collected at hematophagous bat shelters located in Victoria, Águila, Obando, Cartago, Zarzal, San Pedro, Cerrito and Palmira villages belonging to Valle del Cauca region, two samples at Mercaredes which belong to Cauca, two samples at Puerto Nariño which is part of Amazonas region. Epithelial tissue samples were collected from bat's patagium, and submitted to PCR using primers 16 SL and 16SH amplifying mitochondrial DNA of 50 vampires, these products were sequencing resulting in eight haplotypes being the most common presented in 43 individuals. Two methods to reach maximum likelihood and parsimony were used. GENBANK sequences of mitochondrial markers s16 rRNA from Brazil, Venezuela and Costa Rica were used for comparison. Higher similarity between vampire bats from Valle del Cauca and Cauca region, located in the southwest Colombia and vampire bats from Costa Rica and Venezuela was found. In the present study the genetic profiles correlated with the phylogeographic aspects of different populations was performed and a connection between different haplotypes of existing clades was found according to the phylogenetic tree and haplotype net, possible being generated during hematophagous bats migration over the mountain-chain and rivers crossing Colombia. [ABSTRACT FROM AUTHOR]

We analyzed the morphological and genetic variation of the Asian citrus psyllid nymphal ectoparasitoid Tamarixia radiata (Waterston) (Hymenoptera: Eulophidae) in 2 regions of Mexico, in the northeast (represented by the states of Nuevo León and Tamaulipas) and the west (represented by the states of Colima and Michoacán). We found that the morphological variation of the specimens lay mainly in body color traits. The morphometric study indicated that in comparison with females, males presented heterogeneity, and it was concentrated in the state of Colima. Despite the morphological variation found in the species, it was not exclusively associated with any of the geographical regions. Molecular analysis revealed the presence of 2 haplotypes (H1 and H2), which were the same found in previous research among strains introduced to Florida. Haplotype H2 was found in both studied regions and more frequently than haplotype H1, which was collected only in the northeast (Tamaulipas state), suggesting possible points of gene flow between Mexico and the USA. Our results have implications for the extensive use of T. radiata in biological control programs of the Asian citrus psyllid. [ABSTRACT FROM AUTHOR]

This study focused on clinical, hematological, and molecular aspects of sickle cell anemia pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and Salvador, aged 3 to 18 years, were evaluated. Hematological analyses, betaS globin gene haplotypes, and alpha2 3.7kb-thalassemia were performed. Numbers of hospitalizations due to vaso-occlusive crises, infections, stroke, and cholelithiasis were investigated. São Paulo had more hospitalizations from vaso-occlusion, cholelithiasis, and stroke than Salvador. The Ben/CAR genotype predominated in both cities. alpha2 3.7kb-thalassemia had a frequency of 28.2% in Salvador, mostly with Ben/CAR genotype (45.0%), while São Paulo had 22.5% with similar frequencies of the Ben/ CAR and CAR/CAR genotypes. Sickle cell anemia patients from São Paulo also had more episodes of stroke, which was observed among CAR/CAR, atypical, and BEN/CAR haplotypes. In Salvador stroke was only observed in the Ben/CAR genotype. Cholelithiasis had similar frequencies in the two cities. These data suggest a milder phenotype among patients in Salvador, possibly due to genetic, environmental, and socioeconomic factors. Further studies are needed to elucidate modulating factors and phenotype association.O objetivo desse estudo foi avaliar aspectos clínicos, hematológicos e moleculares de pacientes pediátricos portadores de anemia falciforme em duas cidades brasileiras: Salvador e São Paulo. Foram estudados 71 pacientes com idades variando entre 3 a 18 anos, analisando-se os seguintes aspectos: perfis hematológicos, haplótipos dos genes da globina beta, presença de talassemia alfa-2(3.7kb), número de internações por vaso-oclusão, infecção, presença de acidente vascular cerebral e litíase biliar. O genótipo Ben/CAR predominou nas duas cidades. Talassemia alfa-2(3.7kb) teve freqüência de 28,2% em Salvador e 22,5% em São Paulo. Os pacientes de São Paulo apresentaram um número maior de internações por vaso-oclusão nos diferentes genótipos. Esses dados sugeriram um fenótipo com menor gravidade clínica nos pacientes de Salvador, possivelmente relacionados a fatores genéticos, ambientais e sócio-econômicos. Estudos adicionais necessitam ser realizados com intuito de elucidar os efeitos moduladores na expressão gênica da doença.

A five-years long study aiming to describe the basic genetic epidemiology of the dystrophinopathies in Costa Rica recruited 31 patients with clinical symptoms of DMD/BMD at the National Children’s Hospital (HNN). This center is the obligate reference hospital of the national health system for genetic diseases, however, the geographic origin of the patients, a low percentage of deletions and a high proportion of de novo mutations found among them indicate that a significant ascertainment bias impedes a substantial scientific approach to confront and alleviate the problems posed by these severe diseases in Costa Rica. Rev. Biol. Trop. 52(3): 485- 490. Epub 2004 Dic 15.Un estudio de cinco años tendiente a describir la epidemiología genética básica de las distrofinopatías en Costa Rica detectó 31 pacientes con sintomatología de DMD o de BMD en el Hospital Nacional de Niños (HNN), el centro de referencia del sistema nacional de salud para enefrmedades hereditarias, sin embargo, la distribución geográfica de los pacientes, un bajo porcentaje de deleciones y una muy elevada proporción de mutaciones de novo indican que un significante sesgo de averiguación impide el estudio científico de riguroso tendiente a disminuir el impacto de estas enfermedades en Costa Rica.

No presente artigo abordaram-se vários aspectos relacionados à natureza molecular da anemia falciforme, desordem hematológica de caráter hereditário que acomete expressivo número de indivíduos em várias regiões do mundo. As pesquisas realizadas em torno desta patologia da hemácia, ao longo de quase um século, a partir de 1910, cooperaram para a criação de um novo e importante segmento da ciência, denominado biologia molecular. A descoberta dos polimorfismos da mutação (GAT->GTG) no gene que codifica a cadeia beta da hemoglobina, originando diferentes haplótipos da doença, permitiu um melhor e mais amplo conhecimento em torno da heterogeneidade clínica nos pacientes falcêmicos. Analisando a hemoglobina na sua estrutura normal e mutante, sua produção e evolução, pode-se ter um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica.

No presente artigo abordaram-se vários aspectos relacionados à natureza molecular da anemia falciforme, desordem hematológica de caráter hereditário que acomete expressivo número de indivíduos em várias regiões do mundo. As pesquisas realizadas em torno desta patologia da hemácia, ao longo de quase um século, a partir de 1910, cooperaram para a criação de um novo e importante segmento da ciência, denominado biologia molecular. A descoberta dos polimorfismos da mutação (GAT->GTG) no gene que codifica a cadeia beta da hemoglobina, originando diferentes haplótipos da doença, permitiu um melhor e mais amplo conhecimento em torno da heterogeneidade clínica nos pacientes falcêmicos. Analisando a hemoglobina na sua estrutura normal e mutante, sua produção e evolução, pode-se ter um entendimento mais completo da fisiopatologia desta doença e da sua complexidade clínica.

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives The human mannose-binding lectin ( MBL) and ficolins ( FCN) are involved in pathogen recognition in the first line of defence. They support activation of the complement lectin cascade in the presence of MBL-associated serine protease 2 ( MASP-2), a protein that cleaves the C4 and C2 complement components. Recent studies found that distinct MBL2 and FCN2 promoter variants and their corresponding serum levels are associated with relative protection from urogenital schistosomiasis. Methods We investigated the contribution of MASP-2 levels and MASP2 polymorphisms in a Nigerian study group, of 163 individuals infected with Schistosoma haematobium and 183 healthy subjects. Results MASP-2 serum levels varied between younger children (≤12 years) and older children (>12 years) and adults ( P = 0.0001). Younger children with a patent infection had significantly lower MASP-2 serum levels than uninfected children ( P = 0.0074). Older children and adults (>12 years) with a current infection had higher serum MASP-2 levels than controls ( P = 0.032). MBL serum levels correlated positively with MASP-2 serum levels ( P = 0.01). MASP2 secretor haplotypes were associated with MASP-2 serum levels in healthy subjects. The heterozygous MASP2 p.P126L variant was associated with reduced serum MASP-2 levels ( P = 0.01). Conclusions The findings indicate that higher MASP-2 serum levels are associated with relative protection from urogenital schistosomiasis in Nigerian children. [ABSTRACT FROM AUTHOR]

Copyright of Biomédica: Revista del Instituto Nacional de Salud is the property of Instituto Nacional de Salud of Colombia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)