28 resultados para Tradução genética

em Universidade Federal do Rio Grande do Norte(UFRN)


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The aetiology of autoimmunes disease is multifactorial and involves interactions among environmental, hormonal and genetic factors. Many different genes may contribute to autoimmunes disease susceptibility. The major histocompatibility complex (MHC) genes have been extensively studied, however many non-polymorphic MHC genes have also been reported to contribute to autoimmune diseases susceptibility. The aim of the present study was to evaluate the influence of SLC11A1 gene in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Ninety-six patients with SLE, 37 with RA and 202 controls enrolled in this case-control study, were evaluated with regard to demographic, genetic, laboratorial and clinical data. SLE mainly affects females in the ratio of 18 women for each man, 88,3% of the patients aged from 15 to 45 years old and it occurs with similar frequency in whites and mulattos. The rate of RA between women and men was 11:1, with 77,1% of the cases occurring from 31 to 60 years. The genetic analysis of the point mutation -236 of the SLC11A1 gene by SSCP did not show significant differences between alleles/genotypes in patients with SLE or RA when compared to controls. The most frequent clinical manifestations in patients with SLE were cutaneous (87%) and joint (84.9%). In patients with RA, the most frequent out-joint clinical manifestation were rheumatoid nodules (13,5%). Antinuclear antibodies were present in 100% of the patients with SLE. There was no significant relation between activity of disease and presence of rheumatoid factor in patients with RA, however 55,6% of patients with active disease presented positive rheumatoid factor. Significant association between alleles/genotypes of point mutation -236 and clinical manifestations was not found

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Human multipotent mesenchymal stromal cells (MSCs), also known as mesenchymal stem cells, have become an important and attractive therapeutic tool since they are easily isolated and cultured, have in vitro expansion potential, substantial plasticity and secrete bioactive molecules that exert trophic effects. The human umbilical cord as a cell source for cell therapy will help to avoid several ethical, political, religious and technical issues. One of the main issues with SC lines from different sources, mainly those of embryonic origin, is the possibility of chromosomal alterations and genomic instability during in vitro expansion. Cells isolated from one umbilical cord exhibited a rare balanced paracentric inversion, likely a cytogenetic constitutional alteration, karyotype: 46,XY,inv(3)(p13p25~26). Important genes related to cancer predisposition and others involved in DNA repair are located in 3p25~26. Titanium is an excellent biomaterial for bone-implant integration; however, the use can result in the generation of particulate debris that can accumulate in the tissues adjacent to the prosthesis, in the local bone marrow, in the lymph nodes, liver and spleen. Subsequently may elicit important biological responses that aren´t well studied. In this work, we have studied the genetic stability of MSC isolated from the umbilical cord vein during in vitro expansion, after the cryopreservation, and under different concentrations and time of exposition to titanium microparticles. Cells were isolated, in vitro expanded, demonstrated capacity for osteogenic, adipogenic and chondrogenic differentiation and were evaluated using flow cytometry, so they met the minimum requirements for characterization as MSCs. The cells were expanded under different concentrations and time of exposition to titanium microparticles. The genetic stability of MSCs was assessed by cytogenetic analysis, fluorescence in situ hybridization (FISH) and analysis of micronucleus and other nuclear alterations (CBMN). The cells were able to internalize the titanium microparticles, but MSCs preserve their morphology, differentiation capacity and surface marker expression profiles. Furthermore, there was an increase in the genomic instability after long time of in vitro expansion, and this instability was greater when cells were exposed to high doses of titanium microparticles that induced oxidative stress. It is necessary always assess the risks/ benefits of using titanium in tissue therapy involving MSCs, considering the biosafety of the use of bone regeneration using titanium and MSCs. Even without using titanium, it is important that the therapeutic use of such cells is based on analyzes that ensure quality, security and cellular stability, with the standardization of quality control programs appropriate. In conclusion, it is suggested that cytogenetic analysis, FISH analysis and the micronucleus and other nuclear alterations are carried out in CTMH before implanting in a patient

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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The present study had as objective translates, to do equivalence and validation of the Utian Quality of Life (UQOL) for the Brazilian population through methods internationally accepted, in which the original questionnaire was translated for the Portuguese by three teachers and the consensual version was translated back for English by two American teachers (back translation). A multidisciplinary committee evaluated all versions and the final version in Portuguese was applied to climacteric women for the process of adaptation. Validation of the instrument was performed by measuring the reliability and validity properties. Construct validity was examined through the comparison between UQOL and the general measuring scale of quality of life Short Form-36 (SF-36). The final version of translation process was easily recognized by the target population, that didn't tell understanding problems. The results obtained for the reliability intra and interobserver showed significant agreement in all of the subjects. The construct validity was obtained through correlations statistically significant among the domains occupational, health and emotional of UQOL with the SF-36 domains. For the exploratory factorial analysis, it was verified that three factors explain 60% of the total variance of the data, the present study allowed concluding that UQOL was appropriately translated and adapted for applicability in Brazil, presenting high reliability and validity. In that way, the executed project provided the involvement of different areas as gynecology, psychology and physiotherapy (interdisciplinary). Thus, this instrument can be included and used in Brazilian studies to assessment the quality of life during the climacteric years

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O Activities daily living questionnaire - ADLQ foi elaborado para avaliar atividades básicas e instrumentais em pacientes com a doença de Alzheimer. O objetivo principal deste estudo consistiu em realizar a tradução do ADLQ para a língua portuguesa, adaptação transcultural e análise das suas propriedades psicométricas. A amostra foi composta por 60 pacientes e os respectivos 60 cuidadores. O estudo iniciou-se com a tradução do instrumento pela técnica de retrotradução associada ao método bilíngüe. A versão traduzida foi respondida pelo cuidador e o Mini Exame do Estado Mental (MEEM) aplicado ao paciente. A análise psicométrica foi realizada através da validade das medidas do instrumento. Os resultados verificaram uma correlação inversamente significativa (r=-0,793;p<0,05) entre os instrumentos avaliados, com uma explicação da variância total de 62%. A coerência interna do instrumento foi realizada através da correlação com os resultados do MEEM sugerindo uma versão condensada do ADLQ. Avaliando-se através do teste t para amostras correlacionadas, as médias do ADLQ-versão traduzida e versão condensada não apresentaram diferenças significativas, demonstrado assim que a simplificação do instrumento não alterou os valores do nível de dependência funcional observados. A análise fatorial realizada através da rotação Varimax indicou seis dimensões. Atividades como; comer, vestir-se, banho, necessidades fisiológicas, tomar comprimidos, participação em grupos, administrar finanças, manusear dinheiro, locomover pela vizinhança, usar telefone, compreensão, dentre outras, são os mais importantes preditores da capacidade funcional, no grupo estudado. Atividades com desempenho pouco comum a ambos os sexos, e no desempenho de papéis sociais enquanto gênero na sociedade brasileira (afazeres domésticos, consertos e manutenção em casa), na amostra estudada, não demonstraram ter importância na determinação da capacidade funcional com o paciente com a Doença de Alzheimer. O presente estudo disponibiliza uma nova ferramenta de avaliação funcional, visando contribuir para a mensuração mais cuidadosa do estado funcional do paciente por todos os profissionais da área da saúde

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Cinquenta amostras de camarão fresco e refrigerado (Litopenaeus vannamei) foram coletadas em diferentes pontos de comercialização na cidade de Natal RN. As amostras foram maceradas em um gral estéril e 25 gramas semeadas em 225mL de APA contendo 1% de NaCl e 25g em 225mL de CL incubadas a 35ºC - 24 horas. O crescimento em APA foi semeado em placas de Ágar TCBS, incubadas a 35ºC-24h para isolamento de Vibrio e Aeromonas. O crescimento do CL foi semeado em Agar EAM, para isolamento de coliformes. Dos 102 isolados, 91 (89,2%) pertenciam ao gênero Vibrio e 11 (10,8%) ao gênero Aeromonas, com predominância de V. cholerae não O1/não O139, V. alginolyticus, V. carchariae e V. parahaemolyticus K- e A. veronii biogrupo sobria , A. jandaei, A. schubertii, A. veronii biogrupo veronii e A. hydrophila. A menor eficiência entre os antimicrobianos foi da AMP (57,8% de resistência) seguida da AMK (29,4%) e TCY (21,6%). As 39 cepas de Vibrio e Aeromonas multirresistentes se distribuíram em 10 perfis distintos, sendo que um revelou cinco marcos (AMP, CHL, NIT, SXT e TCY) em um isolado de V. carchariae de camarão, adquirido em supermercados. O índice MAR, nas 39 cepas variou de 0,28 a 0,42, sugerindo que são de risco na transferência e difusão da resistência na cadeia alimentar. Após a cura plasmidial pelo tratamento com AO de 24 cepas multirresistentes e com resistência intermediária de víbrio e aeromonas escolhidas aleatoriamente, 13 perderam totalmente a resistência e 7 perderam parcialmente, sendo que o maior percentual de perda da resistência ocorreu nas cepas de V. cholerae não O1 e não O139 (6 cepas), se concentrando nos marcos de resistência a AMP (13), AMK (11), TCY(8) e CIP(3). Os resultados da conjugação realizada entre amostras de Vibrio xvi curadas e a E. coli K12C600 demonstraram que 78,5% das culturas de Vibrio testadas revelaram capacidade de transferência para o gene que confere resistência a AMP e 28,5% para a TCY. Dos coliformes, E. coli foi a mais frequente, seguida de Citrobacter spp, isoladas em 40,3% e 27,5% das amostras respectivamente. AMP foi o antimicrobiano menos eficaz, seguido de TCY. As 11 cepas multirresistentes se distribuíram em 9 perfis distintos, um deles constituído de cinco marcos (AMP, NIT, TCY, CHL, SXT), albergados em uma cepa de Klebsiella spp, oriunda de camarão adquirido em supermercado, similar ao resultado obtido em V. carchariae. Conclui-se que, os camarões marinhos frescos e refrigerados, comercializados em Natal-RN evidenciaram contaminação com coliformes, víbrios e aeromonas multirresistentes a antimicrobianos comumente utilizados na terapia médica e veterinária, e que, possivelmente, a transferência de genes de resistência entre bactérias se constitui um sério problema de saúde pública

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The measurement of patient satisfaction can provide information about the success of the care provider in reaching the values and meeting the expectations of the patient. The purpose of this study was to translate into the Portuguese language and to culturally customize to the Brazilian population the instrument to measure patient satisfaction with physical therapy elaborated by Goldstein et al. The study sample was made up of 279 patients who were undergoing physical therapy treatment at 39 different private clinics in a middle-sized town in northeastern Brazil. For the translation of the survey instrument, the back-translation technique was employed, in association with the bilingual method. The reliability and validity of the Brazilian version of the instrument were both assessed. Reliability analysis, carried out with the computation of Cronbach alpha coefficients, showed that the measures obtained with the instrument have a high degree of internal consistency. The aspects dealing with the patient therapist relationship are the most important predictors of satisfaction, followed by those dealing with courtesy, privacy, and practical aspects such as efficiency of the facility in the patient admissions process, setting up of appointments, and waiting time in waiting room. Items dealing with aspects such as location of the facility and availability of parking facilities may underestimate the reliability of the instrument. This study translated, culturally customized, and validated an instrument to measure patient satisfaction with physical therapy originally developed in English. By so doing, this study has made this instrument available to the Brazilian society, and it has rendered it a useful parameter that can be utilized in our country in the field of physical therapy

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Trypanosoma cruzi infection was evaluated in 390 resident individuals in different rural communities of Caicó municipality, State of Rio Grande do Norte (RN). Of 28 investigated communities the soroprevalence of T. cruzi infection was 2.8% in eight rural communities individuals. The epidemiological characteristics of seropositive shown that the age ranged from 22 to 64 years, being significantly raised from 31 years (90.9%). The female gender was predominant and low education degree. Those individuals reported that they never donated blood, but they had direct contact with triatomines bug. The isolation of the parasite was performed by blood culture and xenoculture methods to determine the genetic variability of the samples. Twenty seven T. cruzi isolates were analyzed by RAPD as genetic marker using three random primers (M13-40, gt11-F and L15996). The T. cruzi isolates showed 73.7% of shared bands considering the average obtained with the three primers, and were genetically well correlated. Using this marker it was possible to separate the populations of the parasite in three distinct groups. The first group composed by isolates obtained of triatomines and humans from four different districts (Caicó, Caraúbas, Serra Negra doNorte and Governador Dix-Sept Rosado); the second contained isolates obtained of triatomines of two different species (T. brasiliensis and P. lutzi) captured in Caraúbas and Serra Negra do Norte. The third grouped isolates obtained from humans of Angicos and Caicó municipalities. In different localities of distinct mesoregions, State of RN, a profile genetic well correlated was identified among all isolates and the presence of three distinct groups of the parasite circulating among vertebrate and invertebrate hosts

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Extensive studies using molecular markers on butterflies have shown how a highly fragmented landscape may result in the reduction of gene flow among patches of habitat and, consequently, increase genetic differentiation among populations. However, little is known about Heliconius geographical structure and the effects of fragmentation on the connectivity of populations. Furthermore, findings on the effects of the population structure on the dynamics of mimicry evolution in Heliconius butterflies need to be tested in H. erato and H. melpomene specimens found in other locations other than Central and northern South Americas. For the present study, we had two motivations: (1) compare the population structure of H. erato and H. melpomene given the highly fragmented Brazil s Atlantic Forest habitat; and (2) studying population structure of co-mimics could give us insights into the dynamics of mimicry evolution. For this, we analysed the spatial structure and connectivity of eight populations of Heliconius butterflies, in a total of 137 H. erato specimens and 145 H. melpomene specimens, using nine microsatellites loci, 1144 AFLPs markers and 282 mitochondrial DNA sequences. In general, both species exhibited evidence of population subdivision but no isolation by distance indicating some extent of genetic differentiation among populations. Contrary to Kronforst & Gilbert s (2008) Costa Rican Heliconius, H. melpomene exhibited more genetic differentiation than H. erato based on nuclear markers. However, for mitochondrial DNA, H. erato populations showed more genetic differentiation than H. melpomene. Our results corroborate to other studies on Heliconius butterflies concerning the pronounced population subdivision and local genetic drift found in this genus. Nevertheless, the pattern of this differentiation varies significantly from the pattern found in studies conducted in Central America, where H. erato is generally more differentiated and structured than H. melpomene, based on nuclear markers. This different pattern may reflect different evolutionary histories of Heliconius species in Northeastern Brazil s Atlantic Forest

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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As a professor in Curso de Licenciatura em Letras, from Campus Avançado Profa Maria Eliza Albuquerque Maia (CAMEAM),do Estado do Estado do Rio Grande do Norte (UERN), in the town of Pau do Ferros, in the state of Rio Grande do Norte, we had the chance to carry out several writing activities , as well as guiding re-writing activities for the texts produced. From this experience, we started looking at the need of reflecting upon the writing process in higher education. Thus, we aim at analyzing, in this research, the methodology used in the moment of carrying out the writing practices activities in higher education, investigating, in particular, the rewriting practices, concerning the operations used for carrying out such activities, as well as the sense effects produced from the alterations which were made in the texts. Our theoretical foundation is grounded on a conception of text as a verbal action , what reveals a socio-interactional view of the language (MARCUSCHI, 2008; SAUTCHUK, 2003). As the production of written texts, our research focus, we assume that, for this activity, we deal with distinct figures (active writer and internal reader), so that we can, apart from writing, reflecting upon our writing and, this way, deciding about operations which are carried out to make the alterations which are necessary to the rewriting of our texts (SAUTCHUK, 2003). Still about the theoretical foundations used in this research, we made use of the theories from the Textual Analysis of Discourse (TAD) which discusses the belief on the evidence on the existence of the texts, which is opposite to the fixist view of textuality which believes that the texts exist by themselves. (ADAM, 2008; [2005]2010). Under this perspective, we have also adopted, the concepts which come from genetics criticism which is concerned about the relation between text and genesis, using as objects documents which bring traits of the text in progress, on the ground that the text is the result of work in progress, and the writing practice, on the other hand, as an activity in a continuous movement (HAY, [1975]2002; DE BIASI, [2000]2010; GRÉSILLON, 1989; [1990]2008; [1992]2002; SALLES, 2008a). The methodology in this research is an ethnography-based one, an approach which focuses on the process, as well as is meaning-based. To understand the objectives proposed in our research, we made use of different procedures of collecting data which include an ethnographic study, such as: observation, note-taking, document analysis. The data which were analyzed were collected during the semester of 2008.2, in a first term classroom of Curso de Letras from CAMEAM, when we were able to collect twenty-one written texts and all of them were rewritten based on rewriting activities, what provides a corpus of forty-two texts which will be analyzed based on the linguistics operations identified by Generative Grammar and adopted by Lebrave and Grésillon (2009). From these analyses, we were able to confirm that writing is a process, and rewriting has become an extremely important activity for this process. Still due to these data, we observed that substitution was the most used operation by text authors. We believe that this result is justified by the fact that the substitution, according to what proposes the Genetic Criticism, constitutes the source of all erasure, from which one can easily make a change in writing. Regarding the operations of addition and deletion, we found that they were used in quantitative terms, almost equivalently, which can be explained when we see that the two operations require, by the author of the text, different strategies from those used for the replacement, what includes , respectively, adding or removing a segment. Finally, we found out that the shift operation was the least used, since it works with a segment that will not be replaced, added or deleted, but transferred to another place of text, which requires a greater ability of the author to perform this operation and not compromising the meaning of his/her writing. As a result, we hope to contribute to the reflection on the teaching of writing, considering, in a particular way, those with a Bachelor in Arts. Our analysis will contribute to the teaching of Portuguese language, specifically for activities that guide the production of texts in order to explore with students the ability to rewrite their own text

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Introduction: The human gestation period is 40 weeks. This is the essential time for maternal psychosocial adaptation, in which there is the intense transformation of a life without offspring into a life with one or more children. The Pregnancy Self-Evaluation Questionnaire (PSEQ) has 79 items, subdivided into seven subcategories: acceptance of pregnancy, identification with the maternal role, well-being of mother and baby, preparing for labor, control in labor, relationship with the mother and the relationship with the partner. Objective: To translate and cross-culturally adapt the instrument PSEQ to be used with Brazilian women. Methods: It is a cross-sectional observational study. We followed some methodological steps to achieve the cross-cultural adaptation of this measuring instrument. They are: translation, synthesis, back translation, analysis of the committee of specialists and pre-test. Another questionnaire was applied to characterize the socio-demographic and clinical status of the pregnant women (n = 36). The descriptive statistics was gotten through the average, standard deviation (SD), absolute and relative frequency. The statistical test used for the analysis of the internal consistency was Cronbach's alpha coefficient, using SPSS version 17.0. Results: The volunteers had low socioeconomic status, average age of 25.1 years (± 5.52), and average gestational age of 25.9 weeks (± 8.11). 58.3% of these volunteers had not planned their current pregnancy. The pretest showed that 75% of pregnant women found the questionnaire easy to understand. There was an average of 76.9 (± 3.23) answered items among the participants. Regarding the instrument PSEQ, the identification with the maternal role was the subcategory which showed the highest average 24.8 (± 5.6), while the relationship with the mother had the lowest average 15.4 (± 7.7). The internal consistency ranged from 0.52-0.89. Conclusion: The translation and cross-cultural adaptation of the PSEQ to Portuguese language were carried out with methodological rigor and can be considered an instrument with good internal consistency

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Introdução: The scales of cognitive screening are important tools for early detection of dementia, creating the possibility of developing measures to slow this process and assist in the management of the disease. Objective: To validate the Leganés Cognitive Test (Prueba Cognitive de Leganés) (PCL) for cognitive screening in low educated elderly Brazilians. Methods: The study sample was composed of 59 elderly residents from the city of Santa Cruz, Brazil with low schooling levels. Reliability was analyzed with a 2-day interval between assessments, and concurrent validity was assessed using the Mini Mental State Examination (MMSE). Results: According to the PCL, the prevalence of dementia was 11.8%. The scale items showed a moderate to strong correlation between domains (p <0.01), and inter-rater reliability exhibited ICC = 0.81, 95% CI (0.72-0.88). Factor analysis resulted in two factors: memory and orientation. Interscale agreement was considered poor (k = - 0.02), supporting the hypothesis of an educational impact on final MMSE scores. Conclusion: The results suggest that PCL has acceptable levels of reliability for use in low educated elderly Brazilians

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Objectives: to translate and assess the psychometric properties of the Brazilian short-form of the Mobility Assessment Tool (MAT-sf) in Brazilians community elderly. Methds: the 12 items MAT-sf went through the process of translation and back translation into Portuguese of the Brazil, considering the semantic and cultural adaptation. In a sample of 150 aged 65-74 years living in the community, the instrument's psychometric properties were evaluated by analysis of convergent and construct validity and test-retest reliability. The main outcomes measures used for validation included in the battery of tests of physical ability, self-repor measures of functional limitations, health, depression, cognitive and sex. The test-retest reliability of the instrument was assessed using the intra-class correlation coefficient (ICC), 40 subjects were reassessed after an interval of 14 days of assessment. Results: the concurrent validity for the MAT-sf was evidenced by significant correlations with SPPB (r = 0,53), number of functional limitations (r = -0,62) and depressive symptoms (r = -0,45). The construct validity of the instrument was measured by gradual and significant increase of the MAT-sf scores with high levels of physical performance and with positive self-reported health, also found that MAT-sf scores were statistically differents according to sex. The variation in MAT-sf scores (R2 = 0,41) was explained by SPPB, number of limitations for activities of daily life and depressive symptoms. High values for test-retest reliability was evidencend by ICC = 0,94, 95% CI = 0,90 0,97. Conclusions: the Brazilian version of the short-form of the Mobility Assessment Tool has values of validity and reliability to ensure its use in elderly populations living in communities

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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.