Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

Padrões cariotípicos em tetraodontiformes (Osteichthypes) :redução genômica e mecanismos de diversificação

The Tetraodontiformes order is composed for about 400 species of fish, distributed in ten families, with circuntropical distribution. The morphologic diversity of each family reflects in, part, the different levels of specialization. This group represents an ancestry after-Perciformes and constitutes the last branch of the diffusion of the Teleósteos, occupying a position of prominence. The phylogenetics relationships of the Tetraodontiformes exist diverse works examining and, in all, these families are recognized as groups brothers, being Diodontidae next to Tetraodontidae and Balistidae next to Monacanthidae. Although it possesss a representative number of species, the works involving of the families Balistidae and Monacanthidae are few exemplary, especially species of oceanic islands. In this work cytogenetic studies in five species had been analyzed Cantherhines macrocerus, Cantherhines pullus (Monacanthidae), Melichthys niger (Balistidae), Sphoeroides testudíneus (Tetraodontidae) and Chilomycterus antennatus (Diodontidae); through conventional coloration, Ag-NORs and C banding. Ahead of the different karyological trends of evolution presented by the Tetraodontiformes, the present work also searched to verify the relation existence enters the total size of the chromosomes with the amount of DNA in these groups of Tetraodontiformes. For such, they had been correlated the total size of the chromosomes of these species, with values of content of available DNA in literature. The cytogenetics analyses for the species C.macrocerusJ C.pullus (Monacanthidae) and M.niger (Balistidae), had disclosed 40 chromosomes, all acrocentrics. All possess only one pair of NORs and pericentromeric heterochromatin. For S.testudíneus the found dyploid number was equal 2n=46, with NF=78 (16m+18sm+8st+4a), while that for C.antennatus it possesss 2n=50, with NF=76 (4m+22st+24a). Both species possess simple NORs and pericentromeric heterochromatin blocks. In M.niger, the presence of positive marking (heterochromatin and NOR) in the secondary constriction in the second chromosomic pair suggesting the occurrence of a rearrangement, possibly a fusing involving these homologous ones, indicating that these events had been important for the establishment of the karyological history of this group. A maintenance of the chromosomic constancy found in the populations of C.macrocerus (Monacanthidae) and S.testudineus (Tetraodontidae) perhaps if must for the aiding of the gene flow through oceanic chains. These data contrast with the differentiated kinds of chromosomes of C.antennatus between the Northeast coast and Southeastern, suggesting that the ecological standards of each species, added to the conditions of the marine environment, can be responsible for the karyological delineation of each species. The found characteristics for the species C.macrocerus, C.pullus, M.niger, S.testudineus and C.antennatus add it the available data for other species of Tetraodontiformes. From the data gotten in the present study, it can be inferred that the DNA content possesss direct relation with the total length of the chromosomes

On 3-Parameter Families of Piecewise Smooth Vector Fields in the Plane

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Variação temporal e descrição de novas espécies de collembola (arthropoda, hexapoda) em uma área de caatinga do nordeste do Brasil

Collembola is one of the most abundant and diverse group of terrestrial arthropods, being at the base of the food chain operating in the decomposition process. They have a wide distribution in the world and can be found in practically all habitats. The knowledge of this distinctive fauna is still deficient in brazilian territory, especially in semi-arid region. The aim of this study was to investigate which climatic variables may act as predictors of species richness, abundance of individuals and compositional structure of the taxocenose of Collembola over 12 months in an area dominated by semi-arid Caatinga vegetation, northeastern Brazil and describe new species of the genus Seira found, more diverse taxon of Collembola in Brazil. Samples were collected in João Câmara, Rio Grande do Norte. Ten plots of 20 x 20 meters were established and the specimens were collected with collection effort of one hour/people using entomological aspirator. The identification and description of the species was carried out by studying the morphology and chaetotaxy. Was performed a multiple regression analysis between species richness and abundance of individuals with climatic variables. A total of 1231 individuals belonging to 15 species, 12 genera and nine families. The greatest richness and abundance of Collembola were found during the rainy season. The genus Seira was the most abundant. Rainfall explained the temporal variation in species richness and abundance of Collembola in the semi-arid region, which is consistent with the biology of these animals. The populations of Collembola showed grouped distribution. Three new species of Seira were described and illustrated and all show similarities with species already registered in the national territory

The stable archipelago in the region of the Pallas and Hansa dynamical families

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Variação temporal e descrição de novas espécies de collembola (arthropoda, hexapoda) em uma área de caatinga do nordeste do Brasil

Collembola is one of the most abundant and diverse group of terrestrial arthropods, being at the base of the food chain operating in the decomposition process. They have a wide distribution in the world and can be found in practically all habitats. The knowledge of this distinctive fauna is still deficient in brazilian territory, especially in semi-arid region. The aim of this study was to investigate which climatic variables may act as predictors of species richness, abundance of individuals and compositional structure of the taxocenose of Collembola over 12 months in an area dominated by semi-arid Caatinga vegetation, northeastern Brazil and describe new species of the genus Seira found, more diverse taxon of Collembola in Brazil. Samples were collected in João Câmara, Rio Grande do Norte. Ten plots of 20 x 20 meters were established and the specimens were collected with collection effort of one hour/people using entomological aspirator. The identification and description of the species was carried out by studying the morphology and chaetotaxy. Was performed a multiple regression analysis between species richness and abundance of individuals with climatic variables. A total of 1231 individuals belonging to 15 species, 12 genera and nine families. The greatest richness and abundance of Collembola were found during the rainy season. The genus Seira was the most abundant. Rainfall explained the temporal variation in species richness and abundance of Collembola in the semi-arid region, which is consistent with the biology of these animals. The populations of Collembola showed grouped distribution. Three new species of Seira were described and illustrated and all show similarities with species already registered in the national territory

Uma leitura geográfica da reforma agrária potiguar

It understands a study made concerning the main aspects of the Agrarian Reform and the Agricultural Nestings of the Rio Grande do Norte. For in such a way an inquiry became necessary initially on the origin of the Brazilian agrarian concentration passing for the donation of Sesmarias, Land Law, Statute of Land and Ith National Plan of the Agrarian Reformation, as well as of the Social Movements of fight for the land appeared since century XIX: Canudos, Contestado, Cangaço, Ligas Camponesas and MST. Drawing the fight for the land in the Rio Grande do Norte, we rescue the component elements of the first indications of the Agrarian Reform and formation of Agricultural Nestings in the State. In the attempt to unmask the current situation of the Settlements, we investigate some concerning aspects to the conditions of life of the seated ones, that it is marked by innumerable problems that go since the lack of water until the a precariousness of the infrastructure and presence of services, over all with relation to the education and health. For in such a way we work initially on the basis of diverse bibliographical readings, together data-collecting the official agencies and some directly involved entities with the Agrarian Reform in the RN. We utilized also the research of field in 27 Settlements of different Microregions of the State that consisted of the application of interviews together to the leaderships of these Settlements and application of forms with the seated families who resulted in a bigger knowledge concerning the reality of these areas that integrate the Politics of the Agrarian Reform

Using Amino Acid Correlation and Community Detection Algorithms to Identify Functional Determinants in Protein Families

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Identification and expression analysis of microRNAs and targets in the biofuel crop sugarcane

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Analysis of plant LTR-retrotransposons at the fine-scale family level reveals individual molecular patterns

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Deep barcode divergence in Brazilian freshwater fishes: the case of the Sao Francisco River basin

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Spermiogenesis and spermatozoal ultrastructure in Trichomycteridae (Teleostei: Ostariophysi: Siluriformes)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Cytogenetic Mapping of 5S and 18S rRNAs and H3 Histone Genes in 4 Ancient Proscopiidae Grasshopper Species: Contribution to Understanding the Evolutionary Dynamics of Multigene Families

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)