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| Registros recuperados: 45 | |
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| Ortiz Salazar, Jorge Alberto. |
| La leptina es una hormona proteica de 16 KDa, compuesta de 146 aminoácidos y es sintetizada principalmente por el tejido adiposo. En el eje hipotálamo-hipófisisgonadal, la leptina juega un papel muy importante en la regulación de la reproducción de los mamíferos. La mutación del gen leptina TT está asociado con la calidad de la carne y leche en bovinos. El objetivo de este estudio fue estimar las frecuencias genotípicas y alélicas del polimorfismo (SNP, Single Nucleotide Polymorphism) del gen leptina en el exon 2, en vacas y sementales del sistema de producción doble propósito en el estado de Chiapas, México. El polimorfismo fue determinado mediante la técnica Tetra Primers Amplyfication Refractory Mutation System-Polymerase Chain Reaction (AMRS-PCR). Se... |
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Palavras-chave: Gen leptina; Polimorfismo; Doble propósito; Técnica ARMS-PCR; Leptin gen; Polymorphisms; Dual purpose system; ARMS-PCR test; Doctorado; Ganadería. |
| Ano: 2011 |
URL: http://hdl.handle.net/10521/571 |
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| Ortiz Salazar, Jorge Alberto. |
| La leptina es una hormona proteica de 16 KDa, compuesta de 146 aminoácidos y es sintetizada principalmente por el tejido adiposo. En el eje hipotálamo-hipófisisgonadal, la leptina juega un papel muy importante en la regulación de la reproducción de los mamíferos. La mutación del gen leptina TT está asociado con la calidad de la carne y leche en bovinos. El objetivo de este estudio fue estimar las frecuencias genotípicas y alélicas del polimorfismo (SNP, Single Nucleotide Polymorphism) del gen leptina en el exon 2, en vacas y sementales del sistema de producción doble propósito en el estado de Chiapas, México. El polimorfismo fue determinado mediante la técnica Tetra Primers Amplyfication Refractory Mutation System-Polymerase Chain Reaction (AMRS-PCR). Se... |
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Palavras-chave: Gen leptina; Polimorfismo; Doble propósito; Técnica ARMS-PCR; Leptin gen; Polymorphisms; Dual purpose system; ARMS-PCR test; Doctorado; Ganadería. |
| Ano: 2011 |
URL: http://hdl.handle.net/10521/571 |
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| Rosales,Alexy; Pacheco,Alejandro; Cuevas,Alejandro; Saavedra,Nicolás; Zambrano,Tomás; Lanas,Fernando; Salazar,Luis A. |
| Interindividual differences in activity and expression of the metabolizing enzymes cytochrome P450 (CYP) 3A4 and 3A5 and the multidrug efflux pump P-glycoprotein (P-gp, encoded by ABCB1 gene) contribute considerably to lipid-lowering efficacy of statin treatment in subjects with hypercholesterolemia. Variability in the activity of CYP3A4, CYP3A5 and P-gp could be considered to result from genetic polymorphisms encoding their genes. However, the available data indicate that the frequencies of ABCB1, CYP3A4 and CYP3A5 gene polymorphisms differ significantly across populations. Thus, the aim of the present study was to determine the allelic frequency of three common variants of these genes in Chilean individuals with primary hypercholesterolemia (HC) and... |
| Tipo: Journal article |
Palavras-chave: Polymorphisms; Statins; Hypercholesterolemia; ABCB1. |
| Ano: 2011 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000400037 |
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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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| 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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| Fonseca,Ana Carolina Proença da; Marchesini,Bruna; Zembrzuski,Verônica Marques; Voigt,Danielle Dutra; Ramos,Vivianne Galante; Carneiro,João Regis Ivar; Nogueira Neto,José Firmino; Cabello,Giselda Maria Kalil de; Cabello,Pedro Hernán. |
| Abstract Obesity is a major public health problem worldwide. It has a complex etiology, influenced by environmental and genetic factors. FTO has been recognized as an important genetic factor for obesity development. This study evaluated the contribution of FTO polymorphisms (rs9939609 and rs17817449) for extreme obesity in terms of the period of obesity onset, anthropometric, and biochemical parameters. The haplotype and the combined effects of FTO risk alleles on obesity susceptibility were evaluated. We investigated 169 normal-weight subjects (body mass index, BMI: 22.8 [21.0; 24.0] kg/m2) and 123 extremely obese individuals (BMI: 47.6 [44.1; 53.1] kg/m2). Genotyping was performed by real time PCR. Our results showed a strong association between FTO... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: BMI; Extreme obesity; FTO; Haplotype; Polymorphisms. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100111 |
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| Škrlec,Ivana; Milic,Jakov; Heffer,Marija; Peterlin,Borut; Wagner,Jasenka. |
| Abstract Disruption of endogenous circadian rhythms has been shown to increase the risk of developing myocardial infarction (MI), suggesting that circadian genes might play a role in determining disease susceptibility. We conducted a case-control study on 200 patients hospitalized due to MI and 200 healthy controls, investigating the association between MI and single nucleotide polymorphisms (SNPs) in four circadian genes (ARNTL, CLOCK, CRY2, and PER2). The variants of all four genes were chosen based on their previously reported association with cardiovascular risk factors, which have a major influence on the occurrence of myocardial infarction. Statistically significant differences, assessed through Chi-square analysis, were found in genotype... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cardiovascular diseases; Circadian rhythm; Myocardial infarction; Polymorphisms. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300403 |
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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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| Polesello,Vania; Segat,Ludovica; Biasotto,Matteo; Ottaviani,Giulia; Gobbo,Margherita; Di Lenarda,Roberto; Crovella,Sergio; Zupin,Luisa. |
| Abstract Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an acute-phase protein able to activate the complement cascade, was investigated to assess a possible association with OLP susceptibility in Italian patients. Two variations at the promoter region (called H/L and X/Y) and three at the first exon (at codon 52, 54, and 57) of the MBL2 gene were analyzed in 69 OLP patients and 244 healthy controls from northeastern Italy. Considering the polymorphisms... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mannose-Binding Protein-C; MBL2; Oral Lichen Planus; Polymorphisms. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100009 |
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| Queiroz,M.A.F.; Gomes,S.T.M.; Almeida,N.C.C.; Souza,M.I.M.; Costa,S.R.C.F.; Hermes,R.B.; Lima,S.S.; Zaninotto,M.M.; Fossa,M.A.A.; Maneschy,M.A.; Martins-Feitosa,R.N.; Azevedo,V.N.; Machado,L.F.A.; Ishak,M.O.G.; Ishak,R.; Vallinoto,A.C.R.. |
| The presence of the single nucleotide polymorphisms in exon 1 of the mannose-binding lectin 2 (MBL2) gene was evaluated in a sample of 159 patients undergoing coronary artery bypass surgery (71 patients undergoing valve replacement surgery and 300 control subjects) to investigate a possible association between polymorphisms and heart disease with Chlamydia infection. The identification of the alleles B and D was performed using real time polymerase chain reaction (PCR) and of the allele C was accomplished through PCR assays followed by digestion with the restriction enzyme. The comparative analysis of allelic and genotypic frequencies between the three groups did not reveal any significant difference, even when related to previous Chlamydia infection.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mannose-binding lectin; Polymorphisms; Heart disease; Chlamydia. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001200604 |
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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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| Masood,Nosheen; Kayani,Mahmood Akhtar. |
| CYP1A1 is the phase I enzyme that detoxifies the carcinogen or converts it into a more electrophilic form, metabolized by phase II enzymes like GSTP1. These detoxifying genes have been extensively studied in association with head and neck cancer (HNC) in different ethnic groups worldwide. The current study was aimed at screening genetic polymorphisms of genes CYP1A1 and GSTP1 in 388 Pakistani HNC patients and 150 cancer-free healthy controls, using PCR-SSCP. No already known variants of either gene were found, however a novel frameshift mutation due to insertion of T (g.2842_2843insT) was observed in the CYP1A1 gene. A statistically significant number (5.4%) of HNC cases, with the mean age of 51.75 (±15.7) years, presented this frameshift mutation in the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GSTP1; CYP1A1; Head and neck cancer; Polymorphisms; Mutations. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000400001 |
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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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| Muñoz-Yáñez,C; Pérez-Morales,R; Moreno-Macías,H; Calleros-Rincón,E; Ballesteros,G; González,R. A; Espinosa,J. |
| Abstract Concerning the genetic factors of obesity, no consistent association between populations has been reported, which may be due to the frequency of polymorphisms, the lifestyle of studied populations and its interaction with other factors. We studied a possible association of polymorphisms FTO rs9939609, PPARG rs1801282, and ADIPOQ rs4632532 and rs182052 with obesity phenotypes in 215 Mexican children. Glucose, triglycerides, cholesterol, HDL and LDL were measured. In addition, weight, height, waist circumference and triceps skin thickness were recorded. High-energy diets and sedentary behavior were evaluated with a validated questionnaire. In contrast with other reports, only FTO rs9939609 was associated with obesity related-traits, including BMI (p... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Obesity; Children; Polymorphisms; Energy intake; Physical activity; Lipid profile. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400547 |
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| BRITO,TAIS C.; POSSUELO,LIA G.; VALIM,ANDREIA R.M.; TODENDI,PÂMELA F.; RIBEIRO,ANDREZZA W.; GREGIANINI,TATIANA S.; JARCZEWSKI,CARLA A.; HUTZ,MARA H.; ROSSETTI,MARIA LUCIA R.; ZAHA,ARNALDO. |
| Anti-tuberculosis drug-induced hepatitis (ATD- induced hepatitis) has been linked to polymorphisms in genes encoding drug metabolizing enzymes. N-acetyltransferase 2 (NAT2), cytochrome P450 2E1 (CYP2E1) and glutathione S-transferase (loci GSTM1 and GSTT1) are involved in the metabolism of isoniazid, the most toxic drug for the treatment of tuberculosis (TB). This study was designed to determine the frequency and to evaluate whether polymorphisms at CYP2E1, GSTM1 and GSTT1 genes are associated with drug response, as well as to identify clinical risk factors for ATD-induced hepatitis. A total of 245 Brazilian patients undergoing treatment for TB were genotyped using polymerase chain reaction and restriction fragment length polymorphism and sequencing... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hepatotoxicity; Isoniazid; Polymorphisms; Tuberculosis. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652014000200855 |
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| Mahasneh,Amjad; Jubaili,Amal; El Bateiha,Ahmed; Al-Ghazo,Mohammad; Matalka,Ismail; Malkawi,Mousa. |
| The arylamine N-acetyltransferase 2 (NAT2) enzymes detoxify a wide range of naturally occurring xenobiotics including carcinogens and drugs. Point mutations in the NAT2 gene result in the variant alleles M1 (NAT2 *5A), M2 (NAT2*6A), M3 (NAT2*7) and M4 (NAT2 *14A) from the wild-type WT (NAT2 *4) allele. The current study was aimed at screening genetic polymorphisms of NAT2 gene in 49 lung cancer patients, 54 colorectal cancer patients and 99 cancer-free controls, using PCR-RFLP. There were significant differences in allele frequencies between lung cancer patients and controls in the WT, M2 and M3 alleles (p < 0.05). However, only M2 and M3 allele frequencies were different between colorectal cancer patients and controls (p < 0.05). There was a... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: NAT2; Lung cancer; Colorectal cancer; Polymorphisms. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500003 |
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| Registros recuperados: 45 | |
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