26 research outputs found

    JAK2 V617F Mutation Prevalence in Myeloproliferative Neoplasms in Pernambuco, Brazil

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    Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Background: The JAK2 V617F mutation is associated with three myeloproliferative neoplasms (MPNs): polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). It generates an unregulated clonal hematopoietic progenitor and leads to abnormal increased proliferation of one or more myeloid lineages. Subjects bearing this mutation may present more frequently with complications such as thrombosis and bleeding, and no specific treatment has yet been developed for BCR-ABL-negative JAK2 V617F-negative MPNs. Aims: To determine the prevalence of JAK2 V617F in MPNs in Pernambuco, Brazil, and to compare it with previous studies. Material and Methods: 144 blood samples were collected at the Hospital of Hematology of the HEMOPE Foundation and were genotyped by polymerase chain reaction-restriction fragment length polymorphism with BsaXI enzymatic digestion. Results and Discussion: 88% (46/52) of the patients with PV, 47% (39/81) with ET, and 77% (8/11) with PMF were positive for JAK2 V617F, while more than 35% of the individuals were JAK2 V617F-negative, confirming a high prevalence of this abnormality in MPNs, more frequently with a low mutated allele burden, similar to what has been reported in other Western countries, despite differences among methods used to detect this mutation. Screening for JAK2 V617F may allow specific management of these diseases with JAK2 inhibitors in the future and highlights the need for further studies on the pathogenesis of BCR-ABL-negative JAK2 V617F-negative MPNs.167802805Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Fundacao de Amparo a Ciencia e Tecnologia do Estado de Pernambuco (FACEPE)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

    O gene rbcL como barcode para identificação forense de Cannabis sativa

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    Cannabis sativa é uma das espécies mais antigas de plantas domesticadas e permanece como uma das culturas mais amplamente difundida e a droga ilícita mais consumida no mundo. Há uma grande difi culdade em identifi car e individualizar as amostras de Cannabis sp, difi cultando a correlação a prováveis locais de plantações ilegais, o que permitiria revelar rotas de tráfi co, relacionar grupos criminosos e distinguir amostras legais daquelas comercializadas como droga, onde o cultivo é permitido. A principal fi nalidade do DNA Barcode é o de proporcionar uma rápida e precisa identifi cação de organismos a partir de uma pequena região padronizada do genoma que ajuda a caracterizar e distinguir espécies e indivíduos não identifi cados para atribuir à espécie. Um dos genes candidatos é o ribulose-1,5-bisfosfato carboxilase/oxigenase (rbcL), utilizado como um sistema de DNA Barcode e presente no DNA dos cloroplastos das plantas, sendo o responsável pela produção subunidade maior da que converte dióxido de carbono e água em carboidratos.Nosso objetivo é o desenvolvimento de um protocolo efi ciente de extração de DNA e de sequenciamento do gene rbcL para análise forense de amostras apreendidas da Polícia Judiciária. DNA de amostras de Cannabis sativa,caracterizadas no ICCE/DGPTC/PCERJ, foi extraído utilizandoo Mini DNeasy Plant (Qiagen)no IPPGF/DGPTC/PCERJ. O material foi transferido para o LabFor/UFRJe um fragmento de 735 pb do gene rbcL foi amplifi cado através de um par de iniciadores descritos na literatura como universais para plantas.O fragmento foi sequenciado, com o protocolo do BigDye v3.1, usando ABI 3500 (Life Technologies). As comparações das sequências foram realizadas no software Geneious (Biomatters). A nossa sequência consenso de 559 pb foi comparada às seqüências que correspondem às regiões rbcL em Cannabis sativa depositadas no GenBank, e observamos a ocorrência de polimorfi smos (SNPs) entre as amostras dos Estados unidos, Reino Unido e China, sugerindo que se trata de uma assinatura genética para análise forense.Cannabis sativa is one of the oldest species of domesticated plants and crops remains one of the most widely deployed and most used illicit drug in the world. There is a great diffi culty in identifying and differentiating the samples of Cannabis sp, complicating the correlation of the likely places illegal plantations, which would reveal traffi cking routes, criminal groups relate and distinguish those samples legal marketed as a drug, where cultivation is permitted. The main purpose of the DNA barcode is to provide a rapid and accurate identifi cation of organisms from a standard small region of the genome that help characterize and distinguish between species and individuals not to assign the identifi ed species. A candidate gene is the ribulose-1 ,5-bisphosphate carboxylase/oxygenase (rbcL), used as a DNA barcode system and present in chloroplast DNA of plants, and are responsible for producing large subunit of converting carbon dioxide and water into carbohydrates. Our goal is to develop an effi cient protocol for DNA extraction and sequencing ofrbcL gene for forensic analysis of seized samples of the Judicial Police. DNA samples from Cannabis sativa were characterized at ICCE/DGPTC/PCERJ and extracted using the DNeasy Plant Mini kit (Qiagen) at IPPGF/DGPTC/PCERJ. The material was transferred to LabFor/UFRJ and a fragment of 735 bprbcL gene was amplifi ed using a primer pair described in the literature as universal plants. The fragment was sequenced with the BigDye v3.1 protocol using ABI 3500 (Life Technologies). Comparisons of the sequences were performed in software Geneious (Biomatters). Our consensus sequence of 559 bp was compared to sequences that correspond to regions rbcL in Cannabis sativa deposited in GenBank, and observe the occurrence of polymorphisms (SNPs) between samples of the United States, Britain and China, suggesting that it is a genetic signature for forensic analysis

    Qualidade dos frutos de genótipos de tomateiro do banco de germoplasma de hortaliças da Universidade Federal de Viçosa

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    Foi avaliada a qualidade dos frutos de 29 acessos de tomateiro do Banco de Germoplasma de Hortaliças (BGH-UFV) e de três cultivares comerciais, Santa Clara, Débora Plus e Fanny. As variáveis avaliadas foram: sólidos solúveis (SS), acidez titulável (AT), pH e relação SS/AT. Foi observada, para os acessos, variação significativa das características avaliadas, com exceção do pH. Os acessos BGH700, BGH2000, BGH2008, BGH2013, BGH2014 e BGH2017 destacaram-se no que se refere ao teor de SS, tendo estes sido superiores em 4,2 ºBrix aos dos cultivares comerciais. Com relação à acidez titulável, os acessos BGH2013, BGH2019, BGH2020 e BGH2033 apresentaram os maiores valores, com acidez acima de 0,57%. Os cultivares comerciais foram alocados no grupo de menor acidez, com valores inferiores a 0,46%. Para a relação SS/AT, destacaram-se os acessos BGH700, BGH2000, BGH2008 e o cultivar comercial Débora Plus com valores de 11,1; 11,9; 10,9; e 10,0, respectivamente.Fruit quality of 29 tomato accesses from the Vegetable Germplasm Bank of the Universidade Federal de Viçosa and three commercial cultivars, Santa Clara, Débora Plus and Fanny were evaluated for the characteristics soluble solids (SS), acidity (AT), pH and SS/AT ratio (flavor fruits indicator). The accesses showed significant variation for the evaluated characteristics, except for the pH. The accesses BGH-700, BGH-2000, BGH-2008, BGH-2013, BGH-2014 and BGH-2017 stood out for the SS content, which were higher than 4.2 ºBrix and the SS content of the commercial cultivars. Acidity of the accesses BGH-2013, BGH-2019, BGH-2020 and BGH-2033 was higher, above 0.57%. The commercial cultivars were classified into the group with the lowest acidity, with values under 0.46%. The accesses BGH-700, BGH-2000, BGH-2008 and the commercial cultivar Débora Plus stood out for the SS/AT ratio, with values of 11.1, 11.9 and 10.9, and 10.0, respectively
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