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| Registros recuperados: 45 | |
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| Carrera,Alicia D.; Pizarro,G.; Poverene,M.; Feingold,S.; León,A.J.; Berry,S.T.. |
| Eight isozyme systems were used in this study: acid phosphatase (ACP), alcohol dehydrogenase (ADH), esterase (EST), glutamate dehydrogenase (GDH), malate dehydrogenase (MDH), phosphoglucoisomerase (PGI), 6-phosphogluconate dehydrogenase (PGD), and phosphoglucomutase (PGM). The polymorphism of these enzyme systems was studied in 25 elite inbred lines. A total of 19 loci were identified, but only eight of them were polymorphic in the germplasm tested. The polymorphic index for the eight informative markers ranged from 0.08 to 0.57, with a mean value of 0.36. Five isozyme loci were mapped in F2:3 populations with existing RFLP data. Est-1, Gdh-2 and Pgi-2 were mapped to linkage groups 3, 14 and 9, respectively. As in previous reports, an ACP locus and a PGD... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Isozyme; Polymorphisms; RFLP markers; Sunflower; Linkage map; Helianthus annuus. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100013 |
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| Ribeiro,M.L.; Santos,A.; Carvalho-Salles,A.B.; Hackel,C.. |
| The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The allelic frequencies of the autosomal markers and the StuI polymorphism of the AR gene were very similar to those described in most North American and European populations. In relation to the CAG and GGN number of repeats, the study subjects had smaller repeat lengths (mean of 20.65 and 22.38, respectively) than those described in North American, European and Chinese populations. In the present study, 30.5%... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prostate cancer; Polymorphisms; AR; SRD5A2; CYP17. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200009 |
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| Munerato,Patrícia; Azevedo,Maria Lúcia; Sucupira,Maria Cecília Araripe; Pardini,Regina; Pinto,Gedson Humberto Novaes; Catroxo,Márcia; Souza,Inara Espinelli; Diaz,Ricardo Sobhie. |
| Entry of human immunodeficiency type 1 virus (HIV-1) into target cells requires both CD4and one of the chemokine receptors. Viruses predominantly use one, or occasionally both, of the major co-receptors CCR5 and CXCR4, although other receptors, including CCR2B and CCR3, function as minor co-receptors. A 32-nucleotide deletion (delta32) within the beta-chemokine receptor 5 gene (CCR5) has been described in subjects who remain uninfected despite extensive exposition to HIV-1. The heterozygous genotype delays disease progression. This allele is common among Caucasians, but has not been found in people of African or Asian ancestry. A more common transition involving a valine to isoleucine switch in transmembrane domain I of CCR2B (64I), with unknown functional... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: CCR5; CCR2B; HIV-1 infection; Polymorphisms. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702003000400002 |
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| Trovó,Alessandra B.; Goloni-Bertollo,Eny M.; Mancini,Ulises M.; Rahal,Paula; Azevedo Jr.,Walter F. de; Tajara,Eloiza H.. |
| Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G>A). One novel polymorphism (c.4514+11C>G) and other three putative polymorphisms were also found (c.3315-27G>A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gene NF1; GRD; Neurofibromatosis type 1; Mutations; Polymorphisms. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003 |
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| Curi,Rogério A.; Oliveira,Henrique N. de; Gimenes,Marcos A.; Silveira,Antonio C.; Lopes,Catalina R.. |
| The objective of the present study was to estimate the allele and genotype frequencies of the CSN3/HinfI and LGB/HaeIII gene polymorphisms in beef cattle belonging to different genetic groups, and to determine the effects of these polymorphisms on growth and carcass traits in these animals, which are submitted to an intensive production model. Genotyping was performed on 79 Nelore, 30 Canchim (5/8 Charolais + 3/8 Zebu) and 275 crossbred cattle originating from the crosses of Simmental (n = 30) and Angus (n = 245) sires with Nelore females. Body weight, weight gain, dressing percentage, longissimus dorsi area and backfat thickness were fitted using the GLM procedure, and least square means of the genotypes were compared by the F test. The results showed... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200015 |
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| Ferreira,Francileide Lisboa; Leal-Mesquita,Emygdia Rosa; Santos,Sidney Emanuel Batista dos; Ribeiro-dos-Santos,Ândrea Kely Campos. |
| Five loci (vWA1, F13A1, D12S67, Apo-B and D1S80) were investigated by polyacrylamide gel electrophoresis followed by silver staining in a sample of 177 individuals from the population of São Luís, State of Maranhão, Brazil. A total of 70 different alleles were identified. A statistically significant deviation from the Hardy-Weinberg equilibrium was observed in a single locus (F13A1, p = 0.0075). The average heterozygosity (H) was estimated at 77.7%, the mean number of alleles per locus as 14. The PD (capacity of genotype differentiation at each locus) ranged from 88.9% (vWA1) to 96.7% (F13A1). The combined PE (power of exclusion) of these five loci was 99.8%. In terms of racial admixture (42% European, 39% Indian, and 19% African Black ancestry), São Luís... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Amazon region; DNA; Polymorphisms; VNTRs; STRs; Interethnic admixture. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100004 |
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| Curi,Rogério A.; Palmieri,Darío A.; Suguisawa,Liliane; Oliveira,Henrique N. de; Silveira,Antonio C.; Lopes,Catalina R.. |
| The objectives of the present study were to estimate the allele and genotype frequencies of the GH1/Alu I and POU1F1/Hinf I polymorphisms in beef cattle belonging to different genetic groups and to determine the effects of these polymorphisms on growth and carcass traits in cattle submitted to feedlot management, an intensive production model. Genotyping was performed on 384 animals, including 79 Nellore, 30 Canchim (5/8 Charolais + 3/8 Zebu), 30 Simmental x Nellore crossbred and 245 Angus x Nellore crossbred cattle. Body weight, weight gain, dressing percentage, Longissimus dorsi area and backfat thickness were fitted using the General Linear Model (GLM) procedure of the SAS program and the least square means of the genotypes were compared using the F... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100012 |
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| Passos-Bueno,Maria Rita; Suzuki,Oscar T.; Armelin-Correa,Lucia M.; Sertié,Andréa L.; Errera,Flavia I.V.; Bagatini,Kelly; Kok,Fernando; Leite,Katia R.M.. |
| Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: COL18A1; Collagen XVIII; Knobloch syndrome; Eye development; Neuronal cell migration; Craniosynostosis; Polymorphisms; D1437N. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012 |
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| Arraes,L.C.; de Souza,P.R.; Bruneska,D.; Castelo Filho,A.; de Souza Cavada,B.; de Lima Filho,J.L.; Crovella,S.. |
| We report a fast (less than 3 h) and cost-effective melting temperature assay method for the detection of single-nucleotide polymorphisms in the MBL2 gene. The protocol, which is based on the Corbett Rotor Gene real time PCR platform and SYBR Green I chemistry, yielded, in the cohorts studied, sensitive (100%) and specific (100%) PCR amplification without the use of costly fluorophore-labeled probes or post-PCR manipulation. At the end of the PCR, the dissociation protocol included a slow heating from 60º to 95ºC in 0.2ºC steps, with an 8-s interval between steps. Melting curve profiles were obtained using the dissociation software of the Rotor Gene-3000 apparatus. Samples were analyzed in duplicate and in different PCR runs to test the reproducibility of... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Melting temperature assay; Real time PCR; MBL2; Polymorphisms; HIV-1-positive children. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000600003 |
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| Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.. |
| Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005 |
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| Freitas,S.R.S.; Cabello,P.H.; Moura-Neto,R.S.; Dolinsky,L.C.; Lima,A.B.; Barros,M.; Bittencourt,I.; Cordovil,I.L.. |
| Essential hypertension is a disease multifactorially triggered by genetic and environmental factors. The contribution of genetic polymorphisms of the renin-angiotensin-aldosterone system and clinical risk factors to the development of resistant hypertension was evaluated in 90 hypertensive patients and in 115 normotensive controls living in Southwestern Brazil. Genotyping for insertion/deletion of angiotensin-converting enzyme, angiotensinogen M235T, angiotensin II type 1 receptor A1166C, aldosterone synthase C344T, and mineralocorticoid receptor A4582C polymorphisms was performed by PCR, with further restriction analysis when required. The influence of genetic polymorphisms on blood pressure variation was assessed by analysis of the odds ratio, while... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Essential hypertension; Renin-angiotensin- aldosterone system; Polymorphisms; Genetics. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000300005 |
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| Duch,C.R.; Figueiredo,M.S.; Ribas,C.; Almeida,M.S.S.; Colleoni,G.W.B.; Bordin,J.O.. |
| It is well established that interleukin-6 (IL-6) is an essential growth factor for multiple myeloma (MM) and patients with increased IL-6 levels have a poor prognosis. In healthy subjects, the presence of the C allele at a polymorphic site (-174 G/C) of the IL-6 gene is related to low IL-6 levels. In view of the potential association of this particular polymorphism with IL-6 concentration, and the relevance of IL-6 in MM pathogenesis, the objective of the present study was to investigate the prevalence of IL-6 (-174 G/C) promoter polymorphism and its association with development of MM in Brazilian individuals. We investigated the prevalence of these alleles in 52 patients and 60 healthy subjects (matched by age, sex, and race) of a Brazilian population.... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Multiple myeloma; Interleukin-6; Polymorphisms. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000200014 |
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| Lyra,P.P.R.; Vaz,F.A.C.; Moreira,P.E.; Hoffmann,J.W.; de Mello,D.E.; Diniz,E.M.A.. |
| Polymorphisms and mutations in the surfactant protein B (SP-B) gene have been associated with the pathogenesis of respiratory distress syndrome (RDS). The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns. We studied 50 preterm babies with RDS (inclusion criteria - newborns with RDS and gestational age between 28 and 33 weeks and 6 days), and 100 healthy term newborns. Four SP-B gene polymorphisms were analyzed: A/C at nucleotide -18, C/T at nucleotide 1580, A/G at nucleotide 9306, and G/C at nucleotide 8714, by PCR amplification of genomic DNA and genotyping by cRFLP. The healthy newborns comprised 42 female and 58 male neonates; 39 were white and 61... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Polymorphisms; Surfactant protein B; Respiratory distress syndrome. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600005 |
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| Pawlik,A.; Kurzawski,M.; Gawronska-Szklarz,B.; Gornik,W.; Dziedziejko,V.; Safranow,K.; Juzyszyn,Z.; Drozdzik,M.. |
| Despite the availability of several new agents for the treatment of rheumatoid arthritis (RA), sulfasalazine remains the mainstay because of both cost and experience with its use. Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and several polymorphisms have been described in the MTHFR gene. Of these, the 677C>T and 1298A>C polymorphisms have been associated with altered enzyme activity. To examine the association between 677C>T and 1298A>C MTHFR polymorphisms and sulfasalazine efficacy for the treatment of RA, a total of 117 RA patients treated with sulfasalazine (1 g daily; duration of treatment 17 ± 5 months) were analyzed. The 677C>T and 1298 A>C polymorphisms were detected using a PCR-RFLP method. RA was... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MTHFR; Polymorphisms; Sulfasalazine; Rheumatoid arthritis. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000700011 |
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| Souza,D.R.S.; Nakazone,M.A.; Pinhel,M.A.S.; Alvares,R.M.; Monaco,A.C.; Pinheiro,A.; Barros,C.F.D.C.; Cury,P.M.; Cunrath,G.S.; Netinho,J.G.. |
| We evaluated genetic variants of apolipoprotein E (APOE HhaI) and their association with serum lipids in colorectal cancer (CRC), together with eating habits and personal history. Eight-seven adults with CRC and 73 controls were studied. APOE*2 (rs7412) and APOE*4 (rs429358) were identified by polymerase chain reaction-restriction fragment length polymorphism. APOE gene polymorphisms were similar in both groups, but the ε4/ε4 genotype (6%) was present only in controls. The patients had reduced levels (mean ± SD) of total cholesterol and low-density lipoprotein cholesterol fraction (180.4 ± 49.5 and 116.1 ± 43.1 mg/dL, respectively) compared to controls (204.2 ± 55.6, P = 0.135 and 134.7 ± 50.8 mg/dL; P = 0.330, respectively) indicating that they were not... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Apolipoprotein E; Colorectal cancer; Lipid profile; Polymorphisms. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500001 |
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| Barcelos,A.L.V.; Chies,R.; Almeida,S.E.M.; Fiegenbaum,M.; Schweigert,I.D.; Chula,F.G.L.; Rossetti,M.L.; Silva,C.M.D.. |
| We investigated the effect of the -278A>C polymorphism in the CYP7A1 gene on the response of plasma lipids to a reduced-fat diet for 6 to 8 weeks in a group of 82 dyslipidemic males with a mean age of 46.0 ± 11.7 years. Individuals who presented at least one high alteration in total cholesterol, low-density lipoprotein cholesterol or triglyceride values were considered to be dyslipidemic. Exclusion criteria were secondary dyslipidemia due to diabetes mellitus, renal, liver, or thyroid disease. None of the subjects were using lipid-lowering medication. Baseline and follow-up lipid concentrations were measured. The genotypes were determined by the digestion of PCR products with the BsaI restriction endonuclease. There were statistically significant... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Dyslipidemia; Polymorphisms; Diet; CYP7A1; Southern Brazil. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600003 |
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| Registros recuperados: 45 | |
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