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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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| 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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| Dieter,Cristine; Assmann,Taís Silveira; Lemos,Natália Emerim; Massignam,Eloísa Toscan; Souza,Bianca Marmontel de; Bauer,Andrea Carla; Crispim,Daisy. |
| Abstract Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS). ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-control study and a meta-analysis conducted to investigate the association between UCP2 -866G/A and Ins/Del polymorphisms and DKD. The case-control study comprised 385 patients with type 1 diabetes mellitus (T1DM): 223 patients without DKD and 162 with DKD. UCP2 -866G/A (rs659366) and Ins/Del polymorphisms were genotyped by real-time PCR and conventional PCR, respectively. For the meta-analysis, a literature search was conducted... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: UCP2; Polymorphisms; Diabetic kidney disease. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400101 |
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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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| Oliveira,Jéssica de; Tureck,Luciane Viater; Santos,Willian dos; Saliba,Louise Farah; Schenknecht,Caroline Schovanz; Scaraboto,Débora; Souza,Ricardo Lehtonen R.; Furtado-Alle,Lupe. |
| Abstract Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G > A (rs1126680), 1615GA (rs1803274), 1914A < G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI < 25/n = 81). BCHE SNPs genotyping was obtained by TaqMan allelic discrimination assay and by RFLP-PCR. Plasmatic BChE activity was measured using... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: BCHE gene; Obesity; Lipid metabolism; Polymorphisms. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300408 |
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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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| 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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| 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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| 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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| 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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| Lu,Yulan; Huang,Huatuo; Liu,Chunhong; Zeng,Yonglong; Wang,Rong; Wang,Chunfang; Wei,Yesheng; Lan,Yan. |
| Abstract The aim of this study was to investigate whether the S100B polymorphisms are associated with systemic lupus erythematous (SLE) in a Chinese population. A total of 313 SLE patients and 396 control subjects were enrolled in the present study. The genotypes of three SNPs (rs9722, rs881827 and rs1051169) in S100B gene were detected by single base extension polymerase chain reaction (SBE-PCR). Serum S100B levels were determined by enzyme-linked immunosorbent assay (ELISA). Rs1051169 was associated with an increased risk of SLE (C vs. G: adjusted OR=1.46, 95% CI, 1.18-1.80, p=0.001; CC vs. GG: adjusted OR=1.99, 95% CI, 1.32-3.02, p=0.001; CC+GC vs. GG: adjusted OR=1.54, 95% CI, 1.13-2.11, p=0.007; CC vs. GC+GG: adjusted OR=1.67, 95% CI, 1.16-2.42,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: S100B; Polymorphisms; Serum levels; SLE; Neurologic disorder. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300321 |
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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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| Baeza,Carlos; Ruiz,Eduardo; Negritto,María. |
| Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeria hookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Alstroemeria hookeri; Complex; Karyotype; Polymorphisms; Chile. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100020 |
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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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| 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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| Registros recuperados: 45 | |
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