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| Registros recuperados: 30 | |
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| Rodrigues,A.C.; Rebecchi,I.M.M.; Bertolami,M.C.; Faludi,A.A.; Hirata,M.H.; Hirata,R.D.C.. |
| The MDR1 gene encodes the P-glycoprotein, an efflux transporter with broad substrate specificity. P-glycoprotein has raised great interest in pharmacogenetics because it transports a variety of structurally divergent drugs, including lipid-lowering drugs. The synonymous single-nucleotide polymorphism C3435T and the nonsynonymous single-nucleotide polymorphism G2677T/A in MDR1 have been indicated as potential determinants of variability in drug disposition and efficacy. In order to evaluate the effect of G2677T/A and C3435T MDR1 polymorphisms on serum levels of lipids before and after atorvastatin administration, 69 unrelated hypercholesterolemic individuals from São Paulo city, Brazil, were selected and treated with 10 mg atorvastatin orally once daily for... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MDR1 gene; Hypercholesterolemia; Statins; Single nucleotide polymorphism; Pharmacogenetics. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900014 |
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| Moysés,C.B.; Moreira,E.S.; Asprino,P.F.; Guimarães,G.S.; Alberto,F.L.. |
| Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hemochromatosis; Single nucleotide polymorphism; Quenched-FRET; Real-time PCR. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000001 |
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| Brustolin,S.; Giugliani,R.; Félix,T.M.. |
| Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Homocysteine; Hyperhomocysteinemia; Folate metabolism; Single nucleotide polymorphism; Susceptibility genes. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100001 |
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| Fernández,María E.; Goszczynski,Daniel E.; Lirón,Juan P.; Villegas-Castagnasso,Egle E.; Carino,Mónica H.; Ripoli,María V.; Rogberg-Muñoz,Andrés; Posik,Diego M.; Peral-García,Pilar; Giovambattista,Guillermo. |
| During the last decade, microsatellites (short tandem repeats or STRs) have been successfully used for animal genetic identification, traceability and paternity, although in recent year single nucleotide polymorphisms (SNPs) have been increasingly used for this purpose. An efficient SNP identification system requires a marker set with enough power to identify individuals and their parents. Genetic diagnostics generally include the analysis of related animals. In this work, the degree of information provided by SNPs for a consanguineous herd of cattle was compared with that provided by STRs. Thirty-six closely related Angus cattle were genotyped for 18 STRs and 116 SNPs. Cumulative SNPs exclusion power values (Q) for paternity and sample matching... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Microsatellite; Single nucleotide polymorphism; Exclusion probability; Genetic identification; Bovine. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200008 |
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| Ripoli,M.V; Wei,S; Rogberg-Muñoz,A; Guo,B.L; Goszczynski,D.E; Fernandez,M.E; Mellucci,L; Lirón,J.P; Villarreal,E; Wei,Y.M; Giovambattista,G. |
| Genetic traceability refers to methods associated with the identification of animals and their products through DNA characterization of individuals, breeds or species. To trace breeds, it is necessary to define the breed groups to analyze, and the most appropriate molecular marker set. The selection of genetic markers depends on the gene frequency distribution, the genetic distance among breeds and the presence of private alleles. In this study, we assessed six single nucleotide polymorphisms (SNPs) located in the DGAT1, TG, LEP, GH, FABP4 and GnRHR genes, as potential genetic markers to be included into a panel for genetic traceability for the identification of breed origin associated with the bovine beef trade. The results of the genetic characterization... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Breed traceability; Genetic traceability; Single nucleotide polymorphism; Chinese cattle; Argentine cattle. |
| Ano: 2013 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332013000300004 |
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| Zhang,Y.; Ling,Z.Y.; Deng,S.B.; Du,H.A.; Yin,Y.H.; Yuan,J.; She,Q.; Chen,Y.Q.. |
| Associations between polymorphisms of the CD36 gene and susceptibility to coronary artery heart disease (CHD) are not clear. We assessed allele frequencies and genotype distributions of CD36 gene polymorphisms in 112 CHD patients and 129 control patients using semi-quantitative polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Additionally, we detected CD36 mRNA expression by real-time quantitative PCR, and we quantified plasma levels of oxidized low-density lipoprotein (ox-LDL) using an enzyme-linked immunosorbent assay (ELISA). There were no significant differences between the two groups (P>0.05) in allele frequencies of rs1761667 or in genotype distribution and allele frequencies of rs3173798. The genotype... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Coronary artery disease; CD36; Rs1761667; Rs3173798; Single nucleotide polymorphism; Ox-LDL. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000895 |
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| Liu,Yu; Duan,Xiaoyan; Chen,Si; He,Hua; Liu,Xiaolin. |
| Abstract Based on RNA-seq analysis, we recently found that the bovine NCAPG (non-SMC condensin I complex, subunit G) gene is differentially expressed during development of the longissimus muscle. In the present study, we validated this result and, using quantitative real-time PCR analysis, identified two adjacent genes, LCORL and DCAF16, that are more abundant in fetal muscle tissue; further analysis of tissue-specific expression patterns indicated high abundance of NCAPG in muscle. Since no polymorphisms were detected in a previous study of Qinchuan cattle, we extended our investigation to examine the occurrence of single-nucleotide polymorphisms (SNPs) in the NCAPG gene. Three SNPs, i.e., one located in the intron region (g47747: T > G), a synonymous... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Association analysis; Growth traits; Longissimus muscle; NCAPG expression; Single nucleotide polymorphism. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400450 |
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| Qin,Peng; Lin,Yu; Hu,Yaodong; Liu,Kun; Mao,Shuangshuang; Li,Zhanyi; Wang,Jirui; Liu,Yaxi; Wei,Yuming; Zheng,Youliang. |
| Abstract The D-genome progenitor of wheat (Triticum aestivum), Aegilops tauschii, possesses numerous genes for resistance to abiotic stresses, including drought. Therefore, information on the genetic architecture of A. tauschii can aid the development of drought-resistant wheat varieties. Here, we evaluated 13 traits in 373 A. tauschii accessions grown under normal and polyethylene glycol-simulated drought stress conditions and performed a genome-wide association study using 7,185 single nucleotide polymorphism (SNP) markers. We identified 208 and 28 SNPs associated with all traits using the general linear model and mixed linear model, respectively, while both models detected 25 significant SNPs with genome-wide distribution. Public database searches... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Aegilops tauschii; Drought resistance; Genome-wide association study; Single nucleotide polymorphism; Wheat. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300398 |
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| Marchini,J.F.M.; Pinto,M.R.; Novaes,G.C.; Badran,A.V.; Pavão,R.B.; Figueiredo,G.L.; Lago,I.M.; Lima-Filho,M.O.; Lemos,D.C.; Tonani,M.; Antloga,C.M.; Oliveira,L.; Lorenzi,J.C.; Marin-Neto,J.A.. |
| Clopidogrel and aspirin are the most commonly used medications worldwide for dual antiplatelet therapy after percutaneous coronary intervention. However, clopidogrel hyporesponsiveness related to gene polymorphisms is a concern. Populations with higher degrees of genetic admixture may have increased prevalence of clopidogrel hyporesponsiveness. To assess this, we genotyped CYP2C19, ABCB1, and PON1 in 187 patients who underwent percutaneous coronary intervention. Race was self-defined by patients. We also performed light transmission aggregometry with adenosine diphosphate (ADP) and arachidonic acid during dual antiplatelet therapy. We found a significant difference for presence of the CYP2C19*2 polymorphism between white and non-white patients. Although 7%... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Platelet function tests; Single nucleotide polymorphism; Percutaneous coronary intervention; Aspirin; Clopidogrel. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000100702 |
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| Registros recuperados: 30 | |
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