SABIIA - Sistema Aberto e Integrado de Informação em Agricultura (Sabiia)

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...

Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987)

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

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...

Association of CYP7A1 -278A>C polymorphism and the response of plasma triglyceride after dietary intervention in dyslipidemic patients

Palavras-chave: Alstroemeria hookeri; Complex; Karyotype; Polymorphisms; Chile.

Ano: 2010

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100020

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...

The role of adrenergic receptor polymorphisms in heart failure

Palavras-chave: Dyslipidemia; Polymorphisms; Diet; CYP7A1; Southern Brazil.

Ano: 2009

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600003

Biolo,A.; Rosa,A.S.; Mazzotti,N.G.; Martins,S.; Belló-Klein,A.; Rohde,L.E.; Clausell,N..

The main function of the cardiac adrenergic system is to regulate cardiac work both in physiologic and pathologic states. A better understanding of this system has permitted the elucidation of its role in the development and progression of heart failure. Regardless of the initial insult, depressed cardiac output results in sympathetic activation. Adrenergic receptors provide a limiting step to this activation and their sustained recruitment in chronic heart failure has proven to be deleterious to the failing heart. This concept has been confirmed by examining the effect of ß-blockers on the progression of heart failure. Studies of adrenergic receptor polymorphisms have recently focused on their impact on the adrenergic system regarding its adaptive...

Polymorphisms in CYP2E1, GSTM1 and GSTT1 and anti-tuberculosis drug-induced hepatotoxicity

Palavras-chave: Heart failure; Adrenergic receptor; Polymorphisms.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000003

Anais da ABC (AABC)

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...

Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response

Palavras-chave: Hepatotoxicity; Isoniazid; Polymorphisms; Tuberculosis.

Ano: 2014

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652014000200855

International Journal of Morphology

Caamaño,José M; Saavedra,Nicolás; Zambrano,Tomás; Lanas,Fernando; Salazar,Luis A.

In this study we evaluated the possible association between five single nucleotide polymorphisms in ABCG5 (rs6720173) and ABCG8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in Chilean hypercholesterolemic subjects. A total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. These subjects were treated with ezetimibe (10mg/day) during one month. The ABCG5 and ABCG8 genotypes were assessed by PCR-RFLP. The genotype distribution of the ABCG5/ABCG8 polymorphisms was in Hardy-Weinberg equilibrium. Our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. Nevertheless, the T allele of rs6544718 polymorphism was related to higher...

Tipo: Journal article

Palavras-chave: Ezetimibe; Cholesterol; ABCG5/G8; Polymorphisms.

Ano: 2012

URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022012000200055

Variability among inbred lines and RFLP mapping of sunflower isozymes

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...

Interleukin-6 promoter polymorphisms (-174 G/C) in Malaysian patients with systemic lupus erythematosus

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

Chua,K.H.; Kee,B.P.; Tan,S.Y.; Lian,L.H..

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that involves the inflammation of various organs upon deposition of immune complexes and is characterized by uncontrolled B cell hyperactivity. Despite intensive research on the etiology of the disease, the exact cause of the onset of SLE is unknown. The pathogenesis of the disease has been proposed to be associated with the imbalance of T helper type 1 (Th1) and Th2 cytokine activities. Elevated serum levels of interleukin-6 (IL-6), a Th2 cytokine with various functions in the regulation of human biological systems, are observed in SLE patients. In the present study, 100 Malaysian SLE patients and 100 controls were evaluated in order to determine the association of polymorphisms existing...

Distinctively variable sequence-based nuclear DNA markers for multilocus phylogeography of the soybean- and rice-infecting fungal pathogen Rhizoctonia solani AG-1 IA

Palavras-chave: Interleukin-6; Systemic lupus erythematosus; Promoter; Polymorphisms.

Ano: 2009

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600012

Ciampi,Maisa B.; Gale,Liane Rosewich; Lemos,Eliana G. de Macedo; Ceresini,Paulo C..

A series of multilocus sequence-based nuclear DNA markers was developed to infer the phylogeographical history of the Basidiomycetous fungal pathogen Rhizoctonia solani AG-1 IA infecting rice and soybean worldwide. The strategy was based on sequencing of cloned genomic DNA fragments (previously used as RFLP probes) and subsequent screening of fungal isolates to detect single nucleotide polymorphisms (SNPs). Ten primer pairs were designed based on these sequences, which resulted in PCR amplification of 200-320 bp size products and polymorphic sequences in all markers analyzed. By direct sequencing we identified both homokaryon and heterokaryon (i.e. dikaryon) isolates at each marker. Cloning the PCR products effectively estimated the allelic phase from...

Detection of SNPs in the BMP6 Gene and Their Association with Carcass and Bone Traits in Chicken

Palavras-chave: Multilocus genotyping; Polymorphisms; Allelic discrimination; Primer design.

Ano: 2009

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400027

Rev. Bras. Ciênc. Avic.

Cui,C; Ye,F; Li,Y; Yin,H; Ye,M; He,L; Zhao,X; Xu,H; Li,D; Qiu,M; Zhu,Q; Wang,Y.

ABSTRACT BMP6, a member of the subfamilies of the morphogenetic proteins (BMPs), plays a crucial role in osteogenic and chondrocyte differentiation in vitro and stimulates chondrogenesis, making chondrocytes differen-tiate on their terminal stage. The objective of this study is to explore the relationship between polymorphism of BMP6 gene and slaughter traits in chicken respectively. We screened the exonic and intronic regions of BMP6 gene by DNA pool construction and amplified DNA fragment by PCR, and finally, we got nine SNPs. Association analysis revealed that BMP6 had no significant association among all slaughter traits in Yellow bantam chicken. However, BMP6 had a significant difference with femur weight, tibia weight, femur length (p<0.05), and...

Effects of CSN3 and LGB gene polymorphisms on production traits in beef cattle

Palavras-chave: BMP6 gene; Bone traits; Carcass traits; Chicken; Polymorphisms.

Ano: 2017

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2017000400673

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...

Growth and carcass traits associated with GH1/Alu I and POU1F1/Hinf I gene polymorphisms in Zebu and crossbred beef cattle

Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass.

Ano: 2005

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200015

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...

TaqI B1/B2 and -629A/C cholesteryl ester transfer protein (CETP) gene polymorphisms and their association with CETP activity and high-density lipoprotein cholesterol levels in a Tehranian population. Part of the Tehran Lipid and Glucose Study (TLGS)

Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100012

Daneshpour,Maryam S; Hedayati,Mehdi; Azizi,Fereidoun.

We examined the cholesteryl ester transfer protein (CETP) gene TaqI intron 1 B1/B2 polymorphism and the -629A/C CETP promoter polymorphism in respect to high-density lipoprotein cholesterol (HDL-C) in a healthy Iranian population taken from the Tehran Lipid and Glucose Study (TLGS). The relationship between CETP activity and HDL-C level was also determined along with body mass index, blood pressure and tobacco smoking status. PCR-RFLP used to amplify a segment of the CETP intron 1 TaqI (B2/B1) polymorphism from 1021 individuals and we selected 345 individuals from the lowest, middle and highest HDL-C deciles and investigated the -629A/C polymorphism. We also evaluated the CETP activity of 103 of these individuals, each with at least one homozygous allele....

-866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis

Palavras-chave: Cholesteryl ester transfer protein (CETP); Hardy-Weinberg equilibrium; Linkage disequilibrium; Polymorphisms.

Ano: 2007

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600001

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...

Analysis of polymorphism at site -174 G/C of interleukin-6 promoter region in multiple myeloma

Palavras-chave: UCP2; Polymorphisms; Diabetic kidney disease.

Ano: 2020

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400101

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....

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients

Palavras-chave: Multiple myeloma; Interleukin-6; Polymorphisms.

Ano: 2007

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000200014

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...

Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction

Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy.

Ano: 2006

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005

Fernández-Torres,Javier; Martínez-Nava,Gabriela Angélica; Zamudio-Cuevas,Yessica; Lozada,Carlos; Garrido-Rodríguez,Daniela; Martínez-Flores,Karina.

Abstract Osteoarthritis (OA) is a complex disease with a multifactorial etiology. The genetic component is one of the main associated factors, resulting from interactions between genes and environmental factors. The aim of this study was to identify gene-gene interactions (epistasis) of the articular cartilage extracellular matrix (ECM) in knee OA. Ninety-two knee OA patients and 147 healthy individuals were included. Participants were genotyped in order to evaluate nine variants of eight genes associated with ECM metabolism using the OpenArray technology. Epistasis was analyzed using the multifactor dimensionality reduction (MDR) method. The MDR analysis showed significant gene-gene interactions between MMP3 (rs679620) and COL3A1 (rs1800255), and between...

Genetic characterization of the population of São Luís, MA, Brazil

Palavras-chave: Epistasis; Extracellular matrix; Knee osteoarthritis; Multifactor dimensionality reduction; Polymorphisms.

Ano: 2020

URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400102

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...

Genetic variants in the fat mass and obesity-associated (FTO) gene confer risk for extreme obesity and modulate adiposity in a Brazilian population

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

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...