Determinantes genéticos da hanseníase em uma população do Rio Grande do Norte

Background: Leprosy can cause severe disability and disfigurement and is still a major health in different parts of the world. Only a subset of those individuals exposed to the pathogen will go on to develop clinical disease and there is a broad clinical spectrum amongst leprosy patients. The outcome of infection is in part due to host genes that influence control of the initial infection and the host´s immune response to that infection. Aim: Evaluate if polymorphisms type SNP in the 17q118q21 chromosomic region contribute to development of leprosy in Rio Grande do Norte population. Material and methods: A sample composed of 215 leprosy patients and 229 controls drawn from the same population were genotyped by using a Snapshot assay for eight genes (NOS2A, CCL18, CRLF3, CCL23, TNFAIP1, STAT5B, CCR7 and CSF3) located in chromosomic region 17q118q21. The genotype and allele frequency were measured and statistical analysis was performed by chi-square in SPSS version 15 and graph prism pad version 4 software. Results: Ours results indicated that the markers NOS2A8277, NOS2A8rs16949, CCR78rs11574663 and CSF38rs2227322 presented strong association with leprosy and their risk genotype were GG, TT, AA and GG respectively. The risk genotypes for all markers associated to leprosy presented recessive inheritance standard. When we compared the interaction among the markers in different combination we find that the marker NOS2A8277 associated with CCR78rs11574663 presented highest risk probability to development of leprosy. When we evaluated the haplotype of the risk markers it was found a haplotype associated with increase of the protection (CSF38rs22273228CC, CCR78 rs115746638GA, NOS2A8rs169498CT and NOS2A82778GA). The association of the clinical forms paucibacilary and multibacilary with markers showed that to the markers NOS2A8 2778GG, CCR78rs115746638AA and CSF38rs22273228GG there were a strong influence to migration to multibacilary pole and to marker NOS2A8rs169498TT the high proportion was found to the paucibacilary form. Conclusions: Changes in the genes NOS2A, CCR7 and CSF3 can influence the immune response against Mycobacterium leprae. The combination among these polymorphisms alters the risk probability to develop leprosy. The markers type SNP associated to development of the leprosy also are linked to clinical forms and its severity being the polymorphism NOS2A8rs169498TT associated with paucibacilar form and the polymorphisms NOS2A82778GG, CCR78rs115746638AA and CSF38rs22273228GG associated to multibacilar form

Estudo dos genes do complexo do antígeno leucocitário humano (hla) associados à susceptibilidade ao diabetes mellitus tipo 1

Of all of the genes associated with the development of Diabetes mellitus type 1 (T1D), the largest contribution comes from the genes in the Human Leukocyte Antigen (HLA) region, mostly the class II DR e DQ genes. Specific combinations of alleles DRB1, DQA1 and DQB1 constituting haplotypes, and further, a combination of more than one haplotype, providing multilocus genotypes are associated with susceptibility, protection and neutrality to DM1. Thus, the aim of present study was to verified the association of polymorphisms of HLA genes class II with susceptibility to type 1 diabetes mellitus (T1D). Ninety-two patients with T1D and 100 individuals normoglycemics (NG) aged between 6 and 20 years were studied. Genomic DNA was obtained from peripheral whole blood, collected in EDTA tube, using the extraction kit Illustra Triple Prep®, GE Healthcare. For HLA typing was used DNA LABType system by One Lambda kit applying Luminex® technology to the method of PCRSSO typing reverse. The alleles DRB1*03:01, *04:05, *04:01, *04:02, DQA1*03:01g, *05:01g, DQB1*02:01g, *03:02, the haplotypes DRB1*03:01-DQA1*05:01-DQB1*02:01, DRB1*04:05-DQA1*03:01g-DQB1*03:02, DRB1*04:02-DQA1*03:01g-DQB1*03:02, DRB1*04:01-DQA1*03:01g-DQB1*03:02 and DR3-DQ2/DR4-DQ8 genotype were significantly associated with the chance of developing T1D. The alleles DRB1*11:01, *15:03, *15:01, *13:01, DQA1*01:02, *04:01g, *01:03, DQB1*06:02, *03:01g, *06:03, *04:02, the haplotypes DRB1*11:01-DQA1*05:01-DQB1*03:01, DRB1*13:01-DQA1*01:03-DQB1*06:03 and DRX-DQX/DRX-DQX genotype, formed by other than the DR3-DQ2 or DR4-DQ8 haplotypes, were significantly associated with T1D protection Despite the major racial Brazilian, even at the regional level, these results are similar to the majority of alleles, genotypes and haplotypes of HLA class II-related susceptibility or resistance to T1D, extensively described in the literature for Caucasian population. Children with age at diagnosis less than 5 years of age had significantly higher frequency of the heterozygous genotype DR3-DQ2/DR4-DQ8 compared to children with age at diagnosis than 5 years old. These results also demonstrate strong association of the genetic profile of the class II HLA for this age group, possibly associated with the severity and rapid progression to the onset of T1D. The knowledge of HLA class II genes may be useful in genetic screens that allow the prediction of T1D

Br-IndustrialExpert: um framework para análise de dependabilidade de processos industriais

There is a growing need to develop new tools to help end users in tasks related to the design, monitoring, maintenance and commissioning of critical infrastructures. The complexity of the industrial environment, for example, requires that these tools have flexible features in order to provide valuable data for the designers at the design phases. Furthermore, it is known that industrial processes have stringent requirements for dependability, since failures can cause economic losses, environmental damages and danger to people. The lack of tools that enable the evaluation of faults in critical infrastructures could mitigate these problems. Accordingly, the said work presents developing a framework for analyzing of dependability for critical infrastructures. The proposal allows the modeling of critical infrastructure, mapping its components to a Fault Tree. Then the mathematical model generated is used for dependability analysis of infrastructure, relying on the equipment and its interconnections failures. Finally, typical scenarios of industrial environments are used to validate the proposal

Estrutura genética de Chromis multilineata (Guichenot, 1853) (Perciformes Pomacentridae) na costa NE do Brasil e ilhas oceânicas: evidências de um passado evolutivo instável.

The fauna of Brazilian reef fishes comprises approximately 320 species distributed along the coast of the mainland and islands ocean. Little is known about the levels of connectivity between their populations, but has been given the interest in the relations between the offshore and the islands of the Brazil, in a biogeographical perspective. The oceanic islands Brazilian hosting a considerable number of endemic species, which are locally abundant, and divide a substantial portion of its reef fish fauna with the Western Atlantic. Among the richest families of reef fish in species are Pomacentridae. This study analyzed through analysis of sequences of the mitochondrial DNA control region (D-loop), the standards-breeding population of C. Multilineata in different areas of the NE coast of Brazil, involving both oceanic islands (Fernando de Noronha Archipelago and of St. Peter and St. Paul) and continental shelf (RN and BA). To this aim, partial sequences were used in the region HVR1 of mtDNA (312pb). The population structure and parameters for the estimates of genetic variability, molecular variance (AMOVA), estimation of the index for fixing (FST) and number of migrants were determined. The phylogenetic relationships between the populations were estimated using neighbor-joining (NJ) method. A group of Bayesian analysis was used to verify population structure, according to haplotype frequency of each individual. The genetic variability of populations was extremely high. The populations sampled show moderate genetic structure, with a higher degree of genetic divergence being observed for the sample of the Archipelago of St. Peter and St. Paul. At smaller geographical scale, the sample of Rio Grande do Norte and the Archipelago of Fernando de Noronha do not have genetic differentiation. Three moderately differentiated population groups were identified: a population group (I), formed by the Rio Grande do Norte (I') and the archipelago of Fernando de Noronha (I''), and two other different groups formed by the island population of the archipelago of Saint Peter and St. Paul (II) and Bahia (III). The genetic patterns found suggest that the species has suffered a relatively recent radiation favoring the absence of shared haplotypes. C. multilineata seems to constitute a relatively homogenous population along the West Atlantic coast, with evidence of a moderate population genetic structure in relation to the Archipelago of St. Peter and St. Paul. These data supports the importance of the dispersal larvae by marine current and the interpopulation similarity this species.

Determinação de haplótipos do gene βs em portadores de anemia falcifome

Haplotypes linked to the βS gene represent patterns of DNA polymorphisms along chromosome 11 of individuals bearing the βS gene. Analysis of haplotypes, in addition to serving as an important source for anthropological studies about the ethnic origin of a population, contributes to a better understanding of the variations in clinical severity of sickle cell anemia. The aim of the present study was to determine βS gene haplotypes in a group of patients with sickle cell anemia treated at the Dalton Barbosa Cunha Hematology Center (Hemonorte) in Natal, Brazil and the Oncology and Hematology Center in Mossoró, Brazil. Blood samples were obtained from 53 non-related patients (27 males and 26 females), aged between 3 months and 61 years (mean age: 16.9 ± 12.1 years). Laboratory analyses consisted of the following: erythrogram, reticulocyte count, hemoglobin electrophoresis at alkaline pH, measurement of hemoglobin A2 and Fetal hemoglobin, solubility test and molecular analysis to determine βS gene haplotypes. DNA samples were extracted by illustra blood genomicPrep Mini Spin kit and βS gene haplotypes were determined by PCR-RFLP, using Xmn I, Hind III, Hinc II and Hinf I restriction enzymes for analysis of six polymorphic restriction sites in the beta cluster. Of 106 βS chromosomes studied, 75.5% were Central African Republic (CAR) haplotype, 11.3% Benin (BEN) and 6.6% Cameroon (CAM). The atypical haplotypes had a frequency of 6.6%. More than half the patients (58.5%) were identified as CAR/CAR genotype carriers, 16.9% heterozygous CAR/BEN, 13.2% CAR/CAM and 1.9% BEN/BEN. Patients with atypical haplotype in one or two chromosomes accounted for 9.5% (CAR/Atp, BEN/Atp and Atp/Atp). The genotype groups showed no statistically significant difference (p < 0.05) in their laboratory parameters. This is the first study related to βS haplotypes conducted in state of Rio Grande do Norte and the higher frequency of Cameroon halotype found, compared to other Brazilian states, suggests the existence of a peculiarity of African origin

Limites e evolução geodinâmica do Sistema Jaguaribeano, Província Borborema, Nordeste do Brasil

The studied area is geologically located in the Northern Domain of the Borborema Province (Northeast Brazil), limited to the south by the Patos shear zone. Terranes of the Jaguaribeano system are dominant, flanked by the Piranhas (E and S sides) and Central Ceará (NE side) terranes. Its basement comprises gneiss -migmatite terrains of Paleoproterozoic to Archean age (2.6 to 1.9 Ga old), overprinted by neoproterozoic to cambrian tectonotherma l events. Narrow supracrustal belts ( schist belts) display a 1.6 to 1.8 Ga age, as shown by whole - rock Rb-Sr and zircon U-Pb and Pb/Pb dates in acid metavolcanics which dominate in the lower section of these sequences, and in coeval metaplutonics (granitic augen gneisses). From the stratigraphic point of view, three Staterian belts are recognized: 1. Orós Belt - made up by the Orós Group, subdivided in the Santarém (predominantly pure to impure quartzites, micaschists and metacarbonates) and Campo Alegre (metandesites, metabasalts, metarhyolites and metarhyodacites, interlayered with metatuffs and metasediments) formations, and by the Serra do Deserto Magmatic Suite (granitic augen gneisses). 2. Jaguaribe Belt - its lithostratigrahic-lithodemic framework is similar to the one of the Orós Belt, however with a greater expression of the volcano -plutonic components (Campo Alegre Formation and Serra do Deserto Magmatic Suite). The Peixe Gordo Sequence, separately described, is also related to this belt and contain s metasedimentary, metavolcanic (with subordinated volcanoclastics) and metaplutonic units. The first one correlated to the Orós Group and the latter the Serra do Deserto Magmatic Suite. 3. Western Potiguar Belt - represented by the Serra de São José Gro up, subdivided in the Catolezinho (biotite -amphibole gneisses with intercalations of metacarbonates, calcsilicate rocks, amphibolites and quartzite beds to the top) and Minhuins (quartzites, micaschists, metaconglomerates, calcsilicate rocks, acid to the b asic metavolcanics and metatuffs) formations. Its late Paleoproterozoic (Staterian) age was established by a Pb/Pb date on zircons from a granitic orthogneiss of the Catolezinho Formation. The petrographic characteristics and sedimentary structures of the Santarém Formation of the Orós Group point to deltaic to shallow marine depositional systems, overlain by deep water deposits (turbidites). The geodynamic setting of this region encompassed a large depositional basin, probably extending to the east of the Portalegre shear zone and west of the Senador Pompeu shear zone, with possible equivalents in the Jucurutu Formation of the Seridó Belt and in the Ceará Group of central Ceará. The Arneiróz Belt, west Ceará, displays some stratigraphic features and granito ids geochemically akin to the ones of the Orós Belt. The evolutionary setting started with an extensional phase which was more active in the eastern part of this domain (Western Potiguar and part of the Jaguaribe belts), where the rudite and psamite sedime ntation relates to a fluviatile rift environment which evolved to a prograding deltaic system to the west (Orós Group). The basaltic andesitic and rhyolitic volcanics were associated to this extensional phase. During this magmatic event, acid magmas also crystallized at plutonic depths. The Orós Group illustrates the environmental conditions in the western part of this domain. Later on, after a large time gap (1.6 to 1.1 Ga), the region was subjected to an extensional deformational episode marked by 900 Ma old (Sm-Nd data) basic rocks, possibly in connection with the deposition of the Cachoeirinha Group south of the Patos shear zone. In the 800 to 500 Ma age interval, the region was affected by important deformational and metamorphic events coupled with in trusion of granitic rocks of variable size (dykes to batholiths), related to the Brasiliano/Pan -African geotectonic cycle. These events produced structural blocks which differentiate, one from the other, according to the importance of anatectic mobilizatio n, proportion of high-grade supracrustals and the amount of neoproterozoic -cambrian granitoid intrusions. On this basis, a large portion of the Jaguaretama Block/Terrane is relatively well preserved from this late overprint. The border belts of the Jagua retama Block (Western Potiguar and Arneiroz) display kyanite-bearing (medium pressure) mineral associations, while in the inner part of the block there is a north-south metamorphic zoning marked by staurolite or sillimanite peak metamorphic conditions. Regarding the deformations of the Staterian supracrustal rocks, second and third phases were the most important, diagnosed as having developed in a progressive tectonic process. In the general, more vigorous conditions of PT are related to the interval tardi - phase 2 early-phase 3, whose radiometric ages and regional structuring indicators places it in the Brasiliano/Pan-African Cycle. In the Staterian geodynamic setting of Brazilian Platform , these sequences are correlated to the lower Espinhaço Supergroup (p.ex., Rio dos Remédios and Paraguaçu groups, a paleproterozoic rift system in the São Francisco Craton), the Araí and Serra da Mesa groups (north of Goiás, in the so -called Goiás Central Massif), and the Uatumã Group (in the Amazonian Craton). Granitic ( augen gneisses) plutonics are also known from these areas, as for example the A-type granites intrusive in the Araí and Serra da Mesa groups, dated at 1.77 Ga. Gravimetric and geological data place the limits of the Jaguaribeano System (terranes) along the Senador Pompeu Shear Zone (western border) and the Portalegre- Farias Brito shear zone (eastern and southern). However, the same data area not conclusive as regards the interpretation of those structures as suture of the terrane docking process. The main features of those shear zones and of involved lothological associations, appear to favour an intracontinental transpressional -transcurrent regime, during Neoproterozoic-Cambrian times, marking discontinuities along which different crustal blocks were laterally dispersed. Inside of this orogenic system and according to the magnetic data (total field map), the most important terrane boundary appears to be the Jaguaribe shear zone. The geochronological data, on some tectonostratigraphic associations (partly represented by the Ceará and Jucurutu groups), still at a preliminary level, besides the lack of granitic zonation and other petrotectonic criteria, do not allow to propose tectonic terrane assembly diagrams for the studied area