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A simplified CsCL protocol for lambda DNA purification: no enzymatic treatment/one phenol extraction Genet. Mol. Biol.
Santelli,Roberto V.; Navarro-Cattapan,Luci Deise.
A modification of the CsCl gradient centrifugation method for DNA phage purification is presented. It avoids the enzymatic steps as well the need for a preliminary phage titration, a tedious process proposed in the majority of the protocols in use. The quality of the DNA obtained makes it amenable for additional manipulations like digestions, ligations, labelling, subcloning, etc.
Tipo: Info:eu-repo/semantics/article
Ano: 2000 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100011
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A snapshot of gene therapy in Latin America Genet. Mol. Biol.
Linden,Rafael; Matte,Ursula.
Gene therapy attempts the insertion and expression of exogenous genetic material in cells for therapeutic purposes. Conceived in the 1960s, gene therapy reached its first clinical trial at the end of the 1980s and by December 2013 around 600 genuine open clinical trials of gene therapy were registered at NIH Clinical Trials Database. Here, we summarize the current efforts towards the development of gene therapy in Latin America. Our survey shows that the number of scientists involved in the development of gene therapy and DNA vaccines in Latin America is still very low. Higher levels of investment in this technology are necessary to boost the advancement of innovation and intellectual property in this field in a way that would ease both the social and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Gene therapy; Gene transfer; Gene delivery; Viral vector; South America.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200015
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A SNP in 5′ untranslated region of CD40 gene is associated with an increased risk of ischemic stroke in a Chinese population: a case-control study Genet. Mol. Biol.
Huang,Hua-Tuo; Guo,Jing; Xiang,Yang; Chen,Jian-Ming; Luo,Hong-Cheng; Meng,Lan-Qing; Wei,Ye-Sheng.
Abstract Cluster of differentiation 40 (CD40), the receptor for CD154, is a member of the tumor necrosis factor (TNF) receptor superfamily. Several studies have been conducted to investigate the effect of the CD40 rs1883832 polymorphism on atherosclerotic disease in different population; however, inconsistent results were obtained. In this study, we investigated the association of four polymorphisms (rs1883832, rs13040307, rs752118 and rs3765459) of CD40 gene and their effect on CD40 expression with the risk of ischemic stroke (IS) in a Chinese population. Three hundred and eighty patients with IS and 450 control subjects were included in the study. The CD40 polymorphisms were discriminated by Snapshot SNP genotyping assay. Serum soluble CD40 (sCD40)...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CD40; Gene; Polymorphism; Ischemic stroke.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300442
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A straightforward multiallelic significance test for the Hardy-Weinberg equilibrium law Genet. Mol. Biol.
Lauretto,Marcelo S.; Nakano,Fabio; Faria Jr,Silvio R.; Pereira,Carlos A.B.; Stern,Julio M..
Much forensic inference based upon DNA evidence is made assuming Hardy-Weinberg Equilibrium (HWE) for the genetic loci being used. Several statistical tests to detect and measure deviation from HWE have been devised, and their limitations become more obvious when testing for deviation within multiallelic DNA loci. The most popular methods-Chi-square and Likelihood-ratio tests-are based on asymptotic results and cannot guarantee a good performance in the presence of low frequency genotypes. Since the parameter space dimension increases at a quadratic rate on the number of alleles, some authors suggest applying sequential methods, where the multiallelic case is reformulated as a sequence of "biallelic" tests. However, in this approach it is not obvious how...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Hardy-Weinberg equilibrium; Significance tests; FBST.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300028
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A study of the constitutive heterochromatin and nucleolus organizer regions of Isocopris inhiata and Diabroctis mimas (Coleoptera: Scarabaeidae, Scarabaeinae) using C-banding, AgNO3 staining and FISH techniques Genet. Mol. Biol.
Bione,Edgar; Camparoto,Marjori Leiva; Simões,Zilá Luz Paulino.
Meiotic and mitotic chromosomes of Isocopris inhiata and Diabroctis mimas were studied by standard staining procedures, C-banding, silver nitrate staining and FISH using Apis mellifera 28S rDNA as probe. Isocopris inhiata presented a 2n = 18 (8II+ Xy p) karyotype, composed of meta-submetacentric chromosomes with gradual reduction in size. The karyotype of D. mimas was 2n = 20 (9II+ Xy p), composed of meta-submetacentric (pairs 1, 2, 3, 4 and 7) and acrocentric (pairs 5, 6, 8 and 9) chromosomes, with gradual reduction in size. Analysis of constitutive heterochromatin revealed similar C-banding patterns for both species, showing pericentromeric and telomeric bands and diphasic chromosomes. In addition, the X chromosomes of these species were found to be...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Coleoptera; Heterochromatin; NORs; FISH.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100019
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A study of the distribution of phylogenetically conserved blocks within clusters of mammalian homeobox genes Genet. Mol. Biol.
Stojanovic,Nikola.
Genome sequencing efforts of the last decade have produced a large amount of data, which has enabled whole-genome comparative analyses in order to locate potentially functional elements and study the overall patterns of phylogenetic conservation. In this paper we present a statistically based method for the characterization of these patterns in mammalian DNA sequences. We have applied this approach to the study of exceptionally well conserved homeobox gene clusters (Hox), based on an alignment of six species, and we have constructed a map of Hox cataloguing the conserved fragments, along with their locations in relation to the genes and other landmarks, sometimes showing unexpected layouts.
Tipo: Info:eu-repo/semantics/article Palavras-chave: Genomics; Phylogenetic conservation; Multiple sequence alignments; Heaviest segments; Hox.
Ano: 2009 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000300034
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A systematic scoping review of the genetic ancestry of the Brazilian population Genet. Mol. Biol.
Souza,Aracele Maria de; Resende,Sarah Stela; Sousa,Taís Nóbrega de; Brito,Cristiana Ferreira Alves de.
Abstract The genetic background of the Brazilian population is mainly characterized by three parental populations: European, African, and Native American. The aim of this study was to overview the genetic ancestry estimates for different Brazilian geographic regions and analyze factors involved in these estimates. In this systematic scoping review were included 51 studies, comprehending 81 populations of 19 states from five regions of Brazil. To reduce the potential of bias from studies with different sampling methods, we calculated the mean genetic ancestry weighted by the number of individuals. The weighted mean proportions of European, African, and Native American ancestries were 68.1%, 19.6%, and 11.6%, respectively. At the regional level, the highest...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Scoping review; Genetic ancestry; Brazilian population; Genetic admixture.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400495
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A test of the utility of DNA barcoding in the radiation of the freshwater stingray genus Potamotrygon (Potamotrygonidae, Myliobatiformes) Genet. Mol. Biol.
Toffoli,Daniel; Hrbek,Tomas; Araújo,Maria Lúcia Góes de; Almeida,Maurício Pinto de; Charvet-Almeida,Patricia; Farias,Izeni Pires.
DNA barcoding is a recently proposed global standard in taxonomy based on DNA sequences. The two main goals of DNA barcoding methodology are assignment of specimens to a species and discovery of new species. There are two main underlying assumptions: i) reciprocal monophyly of species, and ii) intraspecific divergence is always less than interspecific divergence. Here we present a phylogenetic analysis of the family Potamotrygonidae based on mitochondrial cytochrome c oxidase I gene, sampling 10 out of the 18 to 20 valid species including two non-described species. Potamotrygonidae systematics is still not fully resolved with several still-to-be-described species while some other species are difficult to delimit due to overlap in morphological characters...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Potamotrygon; Barcoding; Radiation; Phylogenetics; COI; MtDNA.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000200028
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A transcriptome analysis of mitten crab testes (Eriocheir sinensis) Genet. Mol. Biol.
Zhang,Wei; Wan,Haolei; Jiang,Hui; Zhao,Yunlong; Zhang,Xiaowei; Hu,Songnian; Wang,Qun.
The identification of expressed genes involved in sexual precocity of the mitten crab (Eriocheir sinensis) is critical for a better understanding of its reproductive development. To this end, we constructed a cDNA library from the rapid developmental stage of testis of E. sinensis and sequenced 3,388 randomly picked clones. After processing, 2,990 high-quality expressed sequence tags (ESTs) were clustered into 2,415 unigenes including 307 contigs and 2,108 singlets, which were then compared to the NCBI non-redundant (nr) protein and nucleotide (nt) database for annotation with Blastx and Blastn, respectively. After further analysis, 922 unigenes were obtained with concrete annotations and 30 unigenes were found to have functions possibly related to the...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Reproduction; Testis; EST; Eriocheir sinensis.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100024
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A tribute to José María ("Chema") Cantú Genet. Mol. Biol.
Penchaszadeh,Victor B.; Rojas-Martinez,Augusto; Llerena,Adrián.
José María ("Chema") Cantú (1938-2007), born in Mexico, was a pioneering, loved and respected leader in medical and human genetics and bioethics in Latin America. He graduated as a physician in Mexico and then trained in medical and human genetics in France and the United States. He was instrumental in developing a first-rate research, training and genetic services program in medical and human genetics in Guadalajara, in northwestern Mexico. He acted forcefully at national, regional and international levels to promote scientific development through collaboration and education in science and humanities, while he simultaneously strived for justice, peace, love and human rights. He attained some of the highest honors a scientist and humanist could aspire to...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cantú José María; Medical genetics; Human genetics; Bioethics; Latin America.
Ano: 2014 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200018
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A two-step strategy for the complementation of M: tuberculosis mutants Genet. Mol. Biol.
Movahedzadeh,Farahnaz; Frita,Rosangela; Gutka,Hiten J..
The sequence of Mycobacterium tuberculosis, completed in 1998, facilitated both the development of genomic tools, and the creation of a number of mycobacterial mutants. These mutants have a wide range of phenotypes, from attenuated to hypervirulent strains. These phenotypes must be confirmed, to rule out possible secondary mutations that may arise during the generation of mutant strains. This may occur during the amplification of target genes or during the generation of the mutation, thus constructing a complementation strain, which expresses the wild-type copy of the gene in the mutant strain, becomes necessary. In this study we have introduced a two-step strategy to construct complementation strains using the Ag85 promoter. We have constitutively...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Tuberculosis; Mutagenesis; Constitutive expression; Complementation.
Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200020
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A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses Genet. Mol. Biol.
Leistner,Sandra; Giugliani,Roberto.
Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients...
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
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A variabilidade genética do feijoeiro (Phaseolus vulgaris L.): aplicações nos estudos das interações simbióticas e patogênicas. Infoteca-e
STRALIOTTO, R.; TEIXEIRA, M. G..
A variabilidade genética da hospedeira. Como esta variabilidade pode ser manipulada? A simbiose com o rizóbio. Melhoramento genético do feijoeiro visando a fixação biológica de nitrogênio. As interações e sua utilização no melhoramento da planta.
Tipo: Documentos (INFOTECA-E) Palavras-chave: Feijão; Phaseolus Vulgaris; Simbiose.; Rhizobium.
Ano: 2000 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/622534
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A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism Genet. Mol. Biol.
Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M..
Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant.
Tipo: Info:eu-repo/semantics/article
Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002
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A walk on the wild side: Oryza species as source for rice abiotic stress tolerance Genet. Mol. Biol.
Menguer,Paloma Koprovski; Sperotto,Raul Antonio; Ricachenevsky,Felipe Klein.
Abstract Oryza sativa, the common cultivated rice, is one of the most important crops for human consumption, but production is increasingly threatened by abiotic stresses. Although many efforts have resulted in breeding rice cultivars that are relatively tolerant to their local environments, climate changes and population increase are expected to soon call for new, fast generation of stress tolerant rice germplasm, and current within-species rice diversity might not be enough to overcome such needs. The Oryza genus contains other 23 wild species, with only Oryza glaberrima being also domesticated. Rice domestication was performed with a narrow genetic diversity, and the other Oryza species are a virtually untapped genetic resource for rice stress tolerance...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Oryza; Rice; Wild species; Abiotic stress; Domestication.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000200238
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A web-based bioinformatics interface applied to the GENOSOJA project: databases and pipelines Genet. Mol. Biol.
Nascimento,Leandro Costa do; Costa,Gustavo Gilson Lacerda; Binneck,Eliseu; Pereira,Gonçalo Amarante Guimarães; Carazzolle,Marcelo Falsarella.
The Genosoja consortium is an initiative to integrate different omics research approaches carried out in Brazil. Basically, the aim of the project is to improve the plant by identifying genes involved in responses against stresses that affect domestic production, like drought stress and Asian Rust fungal disease. To do so, the project generated several types of sequence data using different methodologies, most of them sequenced by next generation sequencers. The initial stage of the project is highly dependent on bioinformatics analysis, providing suitable tools and integrated databases. In this work, we describe the main features of the Genosoja web database, including the pipelines to analyze some kinds of data (ESTs, SuperSAGE, microRNAs, subtractive...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Bioinformatics; Database; Gene expression; Soybean; Genosoja.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000200002
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A Young Seedling Stripe2 phenotype in rice is caused by mutation of a chloroplast-localized nucleoside diphosphate kinase 2 required for chloroplast biogenesis Genet. Mol. Biol.
Zhou,Kunneng; Xia,Jiafa; Wang,Yuanlei; Ma,Tingchen; Li,Zefu.
Abstract Chloroplast development and chlorophyll (Chl) biosynthesis in plants are regulated by many genes, but the underlying molecular mechanisms remain largely elusive. We isolated a rice mutant named yss2 (young seedling stripe2) with a striated seedling phenotype beginning from leaf 2 of delayed plant growth. The mutant developed normal green leaves from leaf 5, but reduced tillering and chlorotic leaves and panicles appeared later. Chlorotic yss2 seedlings have decreased pigment contents and impaired chloroplast development. Genetic analysis showed that the mutant phenotype was due to a single recessive gene. Positional cloning and sequence analysis identified a single nucleotide substitution in YSS2 gene causing an amino acid change from Gly to Asp....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chloroplast biogenesis; NDPK; Oryza sativa; Positional cloning; YSS2 gene.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400630
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Abacaxi ornamental : uma riqueza a ser explorada. Infoteca-e
SOUZA, F. V. D.; CABRAL, J. R. S.; SOUZA, E. H. de; SANTOS, O. S. N.; SANTOS-SEREJO, J. A. dos; FERREIRA, F. R.; SILVA, M. de J. da.
A Embrapa Mandioca e Fruticultura Tropical iniciou em principios dos anos 80 um Banco de Gemoplasma tendo reunido atualmente um total de quase 700 acessos no campo, do gênero Ananas e outras bromeliáceas, sendo uma das maiores coleções de gemoplasma desse gênero no mundo, reunindo expressiva variabilidade genética intra e interespecífica. A coleção está em condições de campo e uma duplicata vem sendo introduzida na conservação in vitro desde 2003, como cópia de segurança. A variabilidade genética do gênero Ananas, no entanto, é ainda muito pouco explorada, apesar do potencial que essas plantas têm para a geração de diversos produtos. Os genótipos silvestres possuem uma diversidade de...
Tipo: Comunicado Técnico (INFOTECA-E) Palavras-chave: Abacaxi; Melhoramento Genético Vegetal; Planta Ornamental; Variedade..
Ano: 2007 URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/655608
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ABC transporters in Mycoplasma hyopneumoniae and Mycoplasma synoviae: insights into evolution and pathogenicity Genet. Mol. Biol.
Nicolás,Marisa Fabiana; Barcellos,Fernando Gomes; Nehab Hess,Pablo; Hungria,Mariangela.
ABC transporters represent one of the largest superfamilies of active membrane transport proteins (MTPs) with a highly conserved ATPase domain that binds and hydrolyzes ATP, supplying energy for the uptake of a variety of nutrients and for the extrusion of drugs and metabolic wastes. The complete genomes of a non-pathogenic (J) and pathogenic (7448) strain of Mycoplasma hyopneumoniae, as well as of a pathogenic (53) strain of Mycoplasma synoviae have been recently sequenced. A detailed study revealed a high percentage of CDSs encoding MTPs in M. hyopneumoniae strains J (13.4%), 7448 (13.8%), and in M. synoviae 53 (11.2%), and the ABC systems represented from 85.0 to 88.6% of those CDSs. Uptake systems are mainly involved in cell nutrition and some might be...
Tipo: Info:eu-repo/semantics/article Palavras-chave: ABC transporters; Bioinformatics; Genomes of microorganisms; Membrane transport proteins; Mycoplasma; Phylogeny of prokaryotes.
Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000200006
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Aberraciones cromosómicas en trabajadores rurales de la Provincia de Córdoba expuestos a plaguicidas JBAG
Mañas,Fernando; Peralta,Laura; Gorla,Nora; Bosh,Beatriz; Aiassa,Delia.
Se realizó el monitoreo citogenético preliminar de una muestra poblacional aleatoria integrada por trabajadores rurales de la Provincia de Córdoba expuestos a plaguicidas dada la intensa actividad agrícola que desarrollan, determinada principalmente por plantaciones de soja. Los plaguicidas más utilizados son glifosato, cipermetrina, atrazina. La cantidad de aberraciones cromosómicas (AC)/100 células y el porcentaje de células aberrantes, incluidos gaps, en el grupo de referencia (n= 12) fue de 5,25±2,77 y 5,08±2,71, y los valores para el grupo de expuestos (n= 14): 11,50±4,33 y 11,21±3,87 (p<0,05). La cantidad de AC y el porcentaje de células aberrantes, gaps excluidos, en el grupo de referencia fue de 2,58±1,83 y en el grupo de expuestos: 7,71±3,45 y...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Plaguicidas; Aberraciones cromosómicas; Biomonitoreo.
Ano: 2009 URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332009000100002
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