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| Registros recuperados: 189 | |
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| Galbiatti,A.L.S.; Ruiz,M.T.; Biselli-Chicote,P.M.; Raposo,L.S.; Maniglia,J.V.; Pavarino-Bertelli,E.C.; Goloni-Bertollo,E.M.. |
| The functional effect of the A>G transition at position 2756 on the MTR gene (5-methyltetrahydrofolate-homocysteine methyltransferase), involved in folate metabolism, may be a risk factor for head and neck squamous cell carcinoma (HNSCC). The frequency of MTR A2756G (rs1805087) polymorphism was compared between HNSCC patients and individuals without history of neoplasias. The association of this polymorphism with clinical histopathological parameters was evaluated. A total of 705 individuals were included in the study. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, the chi-square test (univariate analysis) was used for comparisons between groups and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Head and neck cancer; Polymorphism; Folate metabolism; MTR gene. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000500005 |
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| Harrang, Estelle; Lapegue, Sylvie; Morga, Benjamin; Bierne, Nicolas. |
| Marine bivalves show among the greatest allozyme diversity ever reported in Eukaryotes, putting them historically at the heart of the neutralist-selectionist controversy on the maintenance of genetic variation. Although it is now acknowledged that this high diversity is most probably a simple consequence of a large population size, convincing support for this explanation would require a rigorous assessment of the silent nucleotide diversity in natural populations of marine bivalves, which has not yet been done. This study investigated DNA sequence polymorphism in a set of 37 nuclear loci in wild samples of the flat oyster Ostrea edulis. Silent diversity was found to be only moderate (0.7%), and there was no departure from demographic equilibrium under the... |
| Tipo: Text |
Palavras-chave: Nucleotide; Polymorphism; Marine bivalve; Deleterious; Mutations; Genetic load; Ostrea edulis. |
| Ano: 2013 |
URL: http://archimer.ifremer.fr/doc/00125/23610/21444.pdf |
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| Fu,Lei; Wang,Rong; Yin,Ling; Shang,Xiaopu; Zhang,Runtong; Zhang,Pengjun. |
| Abstract We aimed to analyze the correlation between ABCG2 gene polymorphisms of 34 GG/(GA + AA) loci, 421 CC/(AC + AA) loci, and non-small cell lung cancer (NSCLC) therapeutic effects via meta-analysis. With key words, the databases PubMed and EMBASE were searched for clinical studies on ABCG2 polymorphism and NSCLC. RR and 95% CIs were used to compute combined effects, followed by heterogeneity testing. Publication bias was examined using the funnel plot method. Review Manager 5.3 software was used for the meta-analysis. Ten studies were included. No evidence of heterogeneity exists in these studies. The results indicate that two polymorphic loci of ABCG2 gene (34 G>A, and 421 C>A) had no relationship with the curative effect of chemotherapy for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: ABCG2; Polymorphism; Non-small cell lung cancer; Chemotherapy; Meta-analysis. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500105 |
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| Oliveira,Raimundo Antonio G.; Oshiro,Marilena; Hirata,Mario H.; Hirata,Rosario D.C.; Ribeiro,Georgina S.; Medeiros,Tereza M.D.; Barretto,Orlando C. de O.. |
| In this study, we used red cell glucose-6-phosphate dehydrogenase (G6PD) activity to screen for G6PD-deficient individuals in 373 unrelated asymptomatic adult men who were working with insecticides (organophosphorus and carbamate) in dengue prevention programs in 27 cities in São Paulo State, Brazil. Twenty-one unrelated male children suspected of having erythroenzymopathy who were attended at hospitals in São Paulo city were also studied. Fifteen of the 373 adults and 12 of the 21 children were G6PD deficient. G6PD gene mutations were investigated in these G6PD-deficient individuals by using PCR-RFLP, PCR-SSCP analysis and DNA sequencing. Twelve G6PD A-202A/376G and two G6PD Seattle844C, as well as a new variant identified as G6PD São Paulo, were detected... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Glucose-6-phosphate dehydrogenase; Mutations; Polymorphism; Variants. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200007 |
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| Nephrogenic diabetes insipidus (NDI) is a rare disease characterized by renal inability to respond properly to arginine vasopressin due to mutations in the vasopressin type 2 receptor (V2(R)) gene in affected kindreds. In most kindreds thus far reported, the mode of inheritance follows an X chromosome-linked recessive pattern although autosomal-dominant and autosomal-recessive modes of inheritance have also been described. Studies demonstrating mutations in the V2(R) gene in affected kindreds that modify the receptor structure, resulting in a dys- or nonfunctional receptor have been described, but phenotypically indistinguishable NDI patients with a structurally normal V2(R) gene have also been reported. In the present study, we analyzed exon 3 of the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Vasopressin; Receptor; Polymorphism; Diabetes insipidus; Receptor gene polymorphism. |
| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000400002 |
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| Ming-liang,C; Cong,W; Xuan,D; Lu,L; Tang-jie,Z. |
| ABSTRACT The VLDLR gene plays important roles in the growth and adiposity in humans and mice. The purpose of this study was to investigate the relationship between VLDLR gene genetic polymorphisms and growth and abdominal fat traits of the Gaoyou domestic duck. A total of 267 Gaoyou ducks were employed for testing. A 18bp deletion was identified in VLDLR signal peptide coding region. The results of c2 test suggested that the genotype frequencies of VLDLR signal peptide coding region were not in Hardy-Weinberg equilibrium. Least squares analysis showed that body weight (BW) of -18bp/-18bp genotype ducks was significantly higher than those of other genotypes from six (BW6) (p<0.05) to ten weeks of age (BW10) (p<0.01). The association analysis was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polymorphism; VLDLR; Abdominal fat trait; Growth; Duck. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2017000400577 |
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| GONZÁLEZ,RODRIGO; TIRADO,ARES; BALANDA,MONSERRAT; ALVO,MIRIAM; BARQUÍN,INÉS; DURRUTY,PILAR; LOBOS,SERGIO; SEELENFREUND,DANIELA. |
| Diabetic nephropathy (DN) is one of the major complications of type 2 diabetes and is associated with coronary disease. Nephrin, a protein mainly expressed in glomeruli, is decreased in DN and other kidney diseases. Since insulin levels are misregulated in type 2 diabetes, a possible connection between DN and its decreased nephrin expression could be the presence of regulatory elements responsive to insulin in the nephrin gene (NPHS1) promoter region. In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. We amplified and sequenced a 514 bp promoter... |
| Tipo: Journal article |
Palavras-chave: GAGA box; Gene promoter; Nephrin; Polymorphism. |
| Ano: 2007 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000400010 |
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| 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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| Gonzalez,T.P.; Mucenic,T.; Brenol,J.C.T.; Xavier,R.M.; Schiengold,M.; Chies,J.A.B.. |
| P-glycoprotein (Pgp), the ABCB1 gene product, acts as an efflux pump that transports a large variety of substrates and is a mechanism of cell protection against xenobiotics. An increasing number of studies have shown that some ABCB1 polymorphisms may affect Pgp expression and activity, as well as affecting the development and susceptibility to diseases and pharmacological response. High activity of Pgp has been detected in systemic lupus erythematosus (SLE) patients. The C1236T, G2677T/A, and C3435T are the most commonly studied single nucleotide polymorphisms in the ABCB1 gene. Therefore, their frequencies were determined in Brazilian individuals with European ancestry (N = 143) and in SLE patients (N = 137). Genotyping was performed by PCR-RFLP analysis... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: ABCB1; MDR1; P-glycoprotein; Polymorphism; Systemic lupus erythematosus. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000900005 |
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| Gasparotto,Aline Simas; Borges,Diego Olschowsky; Zandoná,Marília Remuzzi; Ramos,Mauricio Jacques; Meihnardt,Nelson Guardiola; Mattevi,Vanessa S.. |
| Abstract Our aim was to investigate if single nucleotide polymorphisms (SNPs) located in the 5′ regions of leptin (LEP, -2548 G > A, rs7799039), resistin (RETN, -420 C > G, rs1862513) and adiponectin (ADIPOQ, -11391 G > A, rs17300539 and -11377 C > G, rs266729) genes were related to changes in body mass index (BMI) and metabolic variables after bariatric surgery in 60 extremely obese individuals. At baseline, ADIPOQ -11391 A-allele carriers showed higher plasma adiponectin and lower total cholesterol levels when compared to G/G homozygotes. Approximately 32 months post-surgery, a mean reduction of 35% in BMI and an important improvement in metabolic profiles were observed. In addition, for the ADIPOQ -11377 polymorphism, a higher decrease in... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Adiponectin; Polymorphism; Obesity; Lipid profile; Bariatric surgery. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500736 |
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| Francisco,Flávio de O.; Brito,Rute M.; Arias,Maria C.. |
| In the present study we compare genetic characteristics (allele diversity and observed heterozygosity) of microsatellite loci, from three stingless bee species (Plebeia remota Holmberg, Partamona mulata Moure In Camargo and Partamona helleri Friese), amplified by using heterospecific primers originally designed for Melipona bicolor Lepeletier and Scaptotrigona postica Latreille. We analyzed 360 individuals of P. remota from 72 nests, 58 individuals of P. mulata from 58 nests, and 47 individuals of P. helleri from 47 nests. The three species studied showed low level of polymorphism for the loci amplified with primers derived from M. bicolor. However, for the loci amplified with primers derived from S. postica, only P. remota presented low level of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Plebeia remota; Partamona mulata; Partamona helleri; Heterozygosity; Polymorphism. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2006000500011 |
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| Limeira,Daniel M.; Renesto,Erasmo; Zawadzki,Cláudio H.. |
| Two allopatric morphotypes of the genus Rinelocaria were compared through the allozyme electrophoresis technique: one morphotype, R. pentamaculata, from the Keller River in the middle stretch of the Ivaí River basin and the other, R. aff. pentamaculata, from the São João River in the upper portion of the Ivaí River basin. The morphotype from the São João River was collected upstream from the São João waterfall, which is about 80 m deep. Twelve enzymatic systems (AAT, ADH, EST, GCDH, G3PDH, GPI, IDH, LDH, MDH, ME, PGM and SOD) were analyzed, which allowed to score 22 loci. Only loci Aat-2, Est-3 and Mdh-C showed polymorphism. The two samples differed in allele frequencies at the three polymorphic loci. The average expected heterozygosity for all loci was... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Allozymes; Fish genetics; Genetic distance; Polymorphism; Loricariidae; Pisces. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200034 |
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| Contreras Toledo, Aremi Rebeca. |
| A partir de la domesticación de chile (Capsicum annuum L.) en México, se ha generado una gran diversidad dentro de esta especie en nuestro país, derivada de la selección de los agricultores para diferentes usos, siendo el chile Poblano uno de los más importantes y el más representativo del Estado de Puebla; sin embargo, el rendimiento de chile poblano en esta región ha presentado una reducción en los últimos años, debido, en parte, a la falta de semilla mejorada que debe ser seleccionada con base en las necesidades de los propios productores, existiendo la potencial pérdida de este germoplasma. Los objetivos de este estudio fueron estimar la diversidad genética y determinar sus posibles patrones de distribución, diferenciar grupos genéticos de variedades y... |
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Palavras-chave: Capsicum annuum; SSR; Polimorfismo; Diferenciación genética; Polymorphism; Genetic differentiation; Maestría; Genética. |
| Ano: 2011 |
URL: http://hdl.handle.net/10521/400 |
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| Contreras Toledo, Aremi Rebeca. |
| A partir de la domesticación de chile (Capsicum annuum L.) en México, se ha generado una gran diversidad dentro de esta especie en nuestro país, derivada de la selección de los agricultores para diferentes usos, siendo el chile Poblano uno de los más importantes y el más representativo del Estado de Puebla; sin embargo, el rendimiento de chile poblano en esta región ha presentado una reducción en los últimos años, debido, en parte, a la falta de semilla mejorada que debe ser seleccionada con base en las necesidades de los propios productores, existiendo la potencial pérdida de este germoplasma. Los objetivos de este estudio fueron estimar la diversidad genética y determinar sus posibles patrones de distribución, diferenciar grupos genéticos de variedades y... |
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Palavras-chave: Capsicum annuum; SSR; Polimorfismo; Diferenciación genética; Polymorphism; Genetic differentiation; Maestría; Genética. |
| Ano: 2011 |
URL: http://hdl.handle.net/10521/400 |
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| Lirón,J.P.; Ripoli,M.V.; De Luca,J.C.; Peral-García,P.; Giovambattista,G.. |
| Data from five protein-coding loci related to dairy production were used to study the genetic diversity and population structure of Argentine and Bolivian Creole cattle breeds. Genomic DNA was extracted from blood samples of six Creole cattle breeds: Argentine (n = 230), Patagonian (n = 25); "Saavedreño" (n = 140), "Chaqueño Boliviano" (n = 30), "Yacumeño" (n = 27), and "Chusco" (n = 11). kappa-casein, beta-lactoglobulin, growth hormone and prolactin were measured by PCR-RFLP, while alphaS1-casein was typed by PCR-ASO. The results are discussed, focusing on: historical origin, recent differentiation and selection events, Zebu gene introgression, and population structure. This work shows that: (i) For the studied genes, the observed gene frequency profiles... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Creole cattle; Polymorphism; Genetic diversity; Molecular markers. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400010 |
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| Registros recuperados: 189 | |
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