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Linkage disequilibrium levels and allele frequency distribution in Blanco Orejinegro and Romosinuano Creole cattle using medium density SNP chip data Genet. Mol. Biol.
Bejarano,Diego; Martínez,Rodrigo; Manrique,Carlos; Parra,Luis Miguel; Rocha,Juan Felipe; Gómez,Yolanda; Abuabara,Yesid; Gallego,Jaime.
Abstract The linkage disequilibrium (LD) between molecular markers affects the accuracy of genome-wide association studies and genomic selection application. High-density genotyping platforms allow identifying the genotype of thousands of single nucleotide polymorphisms (SNPs) distributed throughout the animal genomes, which increases the resolution of LD evaluations. This study evaluated the distribution of minor allele frequencies (MAF) and the level of LD in the Colombian Creole cattle breeds Blanco Orejinegro (BON) and Romosinuano (ROMO) using a medium density SNP panel (BovineSNP50K_v2). The LD decay in these breeds was lower than those reported for other taurine breeds, achieving optimal LD values (r2 ≥ 0.3) up to a distance of 70 kb in BON and 100...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Creole breeds; BovineSNP50; Linkage disequilibrium; Minor allele frequency.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300426
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Leaf-associated bacterial microbiota of coffee and its correlation with manganese and calcium levels on leaves Genet. Mol. Biol.
Sousa,Leandro Pio de; Silva,Marcio José da; Costa Mondego,Jorge Maurício.
Abstract Coffee is one of the most valuable agricultural commodities and the plants’ leaves are the primary site of infection for most coffee diseases, such as the devastating coffee leaf rust. Therefore, the use of bacterial microbiota that inhabits coffee leaves to fight infections could be an alternative agricultural method to protect against coffee diseases. Here, we report the leaf-associated bacteria in three coffee genotypes over the course of a year, with the aim to determine the diversity of bacterial microbiota. The results indicate a prevalence of Enterobacteriales in Coffea canephora, Pseudomonadales in C. arabica ‘Obatã’, and an intriguing lack of bacterial dominance in C. arabica ‘Catuaí’. Using PERMANOVA analyses, we assessed the association...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Coffee; Bacteria; 16S; Leaf; Manganese; Calcium.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300455
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Spatiotemporal expression of MYD88 gene in pigs from birth to adulthood Genet. Mol. Biol.
Gan,LiNa; Qin,WeiYun; Wu,Sen; Wu,ShengLong; Bao,WenBin.
Abstract MYD88 plays an important role in the immune response against infections. To analyze MYD88 gene expression during different stages of pig development, we used real-time PCR. MYD88 was seen expressed in all tissues examined. MYD88 expression in spleen, lungs, and thymus reached its highest value from 7 to 14 days of age and decreased thereafter. Expression in lymph nodes was high until 28 days of age and then it declined after weaning, with stable low levels in adult pigs. MYD88 expression was high before 35 days of age in the small intestine (duodenum, jejunum, and ileum), where it reached its highest value from 7 to 14 days of age. MYD88 expression in the small intestine declined post-weaning and remained relatively low during adulthood. The...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MYD88; Pig; Developmental expression; Immune response.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100119
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Identification of potential target genes of USP22 via ChIP-seq and RNA-seq analysis in HeLa cells Genet. Mol. Biol.
Gong,Zhen; Liu,Jianyun; Xie,Xin; Xu,Xiaoyuan; Wu,Ping; Li,Huimin; Wang,Yaqin; Li,Weidong; Xiong,Jianjun.
Abstract The ubiquitin-specific protease 22 (USP22) is an oncogene and its expression is upregulated in many types of cancer. In the nucleus, USP22 functions as one subunit of the SAGA to regulate gene transcription. However, the genome-wide USP22 binding sites and its direct target genes are yet clear. In this study, we characterized the potential genomic binding sites of UPS22 and GCN5 by ChIP-seq using specific antibodies in HeLa cells. There were 408 overlapping putative target genes bound by both USP22 and GCN5. Motif analysis showed that the sequences bound by USP22 and GCN5 shared two common motifs. Gene ontology (GO) and pathway analysis indicated that the genes targeted by USP22 and GCN5 were involved in different physiological processes and...
Tipo: Info:eu-repo/semantics/article Palavras-chave: USP22; Target genes; ChIP-seq; Knockdown; RNA-seq.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300488
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Molecular evolution and transcriptional profile of GH3 and GH20 β-N-acetylglucosaminidases in the entomopathogenic fungus Metarhizium anisopliae Genet. Mol. Biol.
Oliveira,Eder Silva de; Junges,Ângela; Sbaraini,Nicolau; Andreis,Fábio Carrer; Thompson,Claudia Elizabeth; Staats,Charley Christian; Schrank,Augusto.
Abstract Cell walls are involved in manifold aspects of fungi maintenance. For several fungi, chitin synthesis, degradation and recycling are essential processes required for cell wall biogenesis; notably, the activity of β-N-acetylglucosaminidases (NAGases) must be present for chitin utilization. For entomopathogenic fungi, such as Metarhizium anisopliae, chitin degradation is also used to breach the host cuticle during infection. In view of the putative role of NAGases as virulence factors, this study explored the transcriptional profile and evolution of putative GH20 NAGases (MaNAG1 and MaNAG2) and GH3 NAGases (MaNAG3 and MaNAG4) identified in M. anisopliae. While MaNAG2 orthologs are conserved in several ascomycetes, MaNAG1 clusters only with...
Tipo: Info:eu-repo/semantics/article Palavras-chave: NAGases; GH20 and GH3; Metarhizium; Chitinolytic system; Entomopathogenesis.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500843
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Dispersion of transposable elements and multigene families: Microstructural variation in Characidium (Characiformes: Crenuchidae) genomes Genet. Mol. Biol.
Pucci,Marcela Baer; Nogaroto,Viviane; Moreira-Filho,Orlando; Vicari,Marcelo Ricardo.
Abstract Eukaryotic genomes consist of several repetitive DNAs, including dispersed DNA sequences that move between chromosome sites, tandem repeats of DNA sequences, and multigene families. In this study, repeated sequences isolated from the genome of Characidium gomesi were analyzed and mapped to chromosomes in Characidium zebra and specimens from two populations of C. gomesi. The sequences were transposable elements (TEs) named retroelement of Xiphophorus (Rex); multigene families of U2 small nuclear RNA (U2 snRNA); and histones H1, H3, and H4. Sequence analyses revealed that U2 snRNA contains a major portion corresponding to the Tx1-type non-LTR retrotransposon Keno, the preferential insertion sites of which are U2 snRNA sequences. All histone...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mobile DNA; Histones; Karyotype evolution; SnRNA; WZ/ZZ.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400585
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Differential gene expression profiles in peripheral blood in Northeast Chinese Han people with acute myocardial infarction Genet. Mol. Biol.
Fan,Lin; Meng,Heyu; Guo,Xudong; Li,Xiangdong; Meng,Fanbo.
Abstract This study aimed to use gene chips to investigate differential gene expression profiles in the occurrence and development of acute myocardial infarction (AMI). The study included 12 AMI patients and 12 healthy individuals. Total mRNA of peripheral bloodwas extracted and reversed-transcribed to cDNA for microarray analysis. After establishing two pools with three subjects each (3 AMI patients and 3 healthy individuals), the remaining samples were used for RT-qPCR to confirm the microarray data. From the microarray results, seven genes were randomly selected for RT-qPCR. RT-qPCR results were analyzed by the 2-ΔΔCt method. Microarray analysis showed that 228 genes were up- regulated and 271 were down-regulated (p ≤ 0.05, |logFC| > 1). Gene...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Acute myocardial infarction; RNA; Differential expression.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100059
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Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1 Genet. Mol. Biol.
Müller,Bent; Boltze,Johannes; Czepezauer,Ivonne; Hesse,Volker; Wilcke,Arndt; Kirsten,Holger.
Abstract An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by using a differential allelic expression assay. In total, 12 SNPs previously associated with dyslexia and related phenotypes were suitable for analysis. Transcripts corresponding to four SNPs were sufficiently expressed in 28 cell lines originating from controls and a family affected by dyslexia. We observed a significant effect of rs600753 on expression levels of DYX1C1 in forward and reverse sequencing...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Dyslexia; SNP; EQTL; Differential allelic expression.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100041
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Karyotypes of Brazilian non-volant small mammals (Didelphidae and Rodentia): An online tool for accessing the chromosomal diversity Genet. Mol. Biol.
Paresque,Roberta; Rodrigues,Jocilene da Silva; Righetti,Kelli Beltrame.
Abstract We have created a database system named CIPEMAB (CItogenética dos PEquenos MAmíferos Brasileiros) to assemble images of the chromosomes of Brazilian small mammals (Rodents and Marsupials). It includes karyotype information, such as diploid number, karyotype features, idiograms, and sexual chromosomes characteristics. CIPEMAB facilitates quick sharing of information on chromosome research among cytogeneticists as well as researchers in other fields. The database contains more than 300 microscopic images, including karyotypic images obtained from 182 species of small mammals from the literature. Researchers can browse the contents of the database online (http://www.citogenetica.ufes.br). The system enables users to locate images of interest by taxa,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Karyotype diversity; Cytogenetic; Cytogenetic database.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400605
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Isolation and characterization of mesenchymal stem/stromal cells from Ctenomys minutus Genet. Mol. Biol.
Pereira,Mayra Ramos de Jesus; Pinhatti,Valéria Rodrigues; Silveira,Maiele Dornelles da; Matzenbacher,Cristina Araujo; Freitas,Thales Renato Ochotorena de; Silva,Juliana da; Camassola,Melissa; Nardi,Nance Beyer.
Abstract Mesenchymal stem/stromal cells (MSCs) are multipotent cells distributed in all tissues and characterized by adherence, morphology, immunophenotype and trilineage differentiation potential. The present study aimed to isolate and characterize adherent MSC-like populations from different tissues of Ctenomys minutus, a threatened wildlife rodent popularly known as tuco-tuco. Adherent cells were isolated from bone marrow, brain, liver, pancreas and adipose tissue of three adult animals collect in southern Brazil. Cultures showed typical morphology and proliferation potential. Adipose-derived MSCs showed trilineage potential. Cultures derived from adipose tissue, bone marrow and brain were immunophenotyped with negative results for CD31, CD44, CD45,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mesenchymal stem/stromal cells; Tuco-tuco; Ctenomys minutus.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500870
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The pequi pulp oil (Caryocar brasiliense Camb.) provides protection against aging-related anemia, inflammation and oxidative stress in Swiss mice, especially in females Genet. Mol. Biol.
Roll,Mariana Matos; Miranda-Vilela,Ana Luisa; Longo,João Paulo Figueiró; Agostini-Costa,Tania da Silveira; Grisolia,Cesar Koppe.
Abstract Continued exposure to reactive oxygen species and inflammation are the rationale behind aging theories and associated diseases. Scientific evidence corroborates the ethnomedicinal use of the oil of pequi (Caryocar brasiliense Camb.), a typical Brazilian Cerrado fruit, against oxidative damage to biomolecules and inflammation. We aimed to investigate in vivo the antioxidant and anti-inflammatory effects of pequi oil on hemogram and DNA damage in healthy young adult and older middle-aged Swiss mice of both genders. Animals, aged 6-7 and 11-12 months, were orally treated for 15 days with pequi oil at 30 mg/day. Blood samples were used for hemogram and comet assay, and bone marrow for micronucleus test. Female controls of 11-12 months had...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Aging-related inflammation and oxidative stress; Comet assay; Micronucleus; Antioxidant; Folk medicine.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500858
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Performance of probe polymerization-conjunction-agarose gel electrophoresis in the rapid detection of KRAS gene mutation Genet. Mol. Biol.
Xiao,Na; Tang,Yi-Tong; Li,Zhi-Shan; Cao,Rui; Wang,Rong; Zou,Jiu-Ming; Pei,Jiao.
Abstract This study aimed to develop a simple and rapid method to detect KRAS gene mutations for conventional clinical applications under laboratory conditions. The genotype of mutation sites was determined based on the occurrence of target bands in the corresponding lanes of the reaction tubes through polymerization-conjunction of the probes, probe purification and amplification, and agarose gel electrophoresis. Circulating DNA samples were obtained from the plasma of 72 patients with lung cancer, which were identified based on six mutation sites (G12S, G12R, G12C, G12D, G12A, and G12V) of codon 12 of the KRAS gene. The detection results were compared with direct sequencing data. The proposed detection method is characterized by simple operation, high...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation; Circulating DNA; Polymerization-conjunction reaction; Agarose gel electrophoresis; K-ras.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400555
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The UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms are associated with premature coronary artery disease and cardiovascular risk factors in Mexican population Genet. Mol. Biol.
Gamboa,Ricardo; Huesca-Gómez,Claudia; López-Pérez,Vanessa; Posadas-Sánchez,Rosalinda; Cardoso-Saldaña,Guillermo; Medina-Urrutia,Aida; Juárez-Rojas,Juan Gabriel; Soto,María Elena; Posadas-Romero,Carlos; Vargas-Alarcón,Gilberto.
Abstract We examined the role of UCP gene polymorphisms as susceptibility markers for premature coronary artery disease (pCAD). The UCP2 Ala55Val (C/T rs660339), UCP2 -866G/A (rs659366), and UCP3 -55C/T (rs1800849) polymorphisms were genotyped in 948 patients with pCAD, and 763 controls. The distribution of the UCP2 A55V (C/T rs660339) and UCP3 -55 (rs1800849) was similar in patients and controls. However, under a recessive model, the UCP2 -866 (rs659366) A allele was associated with increased risk of developing pCAD (OR = 1.43, Pc = 0.003). On the other hand, patients with pCAD and UCP2 A55V (rs660339) TT showed high levels of visceral abdominal fat (VAF) (Pc = 0.002), low levels of subcutaneous abdominal fat (SAF) (Pc = 0.001) and high VAT/SAT ratio (Pc...
Tipo: Info:eu-repo/semantics/article Palavras-chave: UCPs polymorphisms; Premature coronary artery; Cardiovascular risk; Mexican population.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300371
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Oxytocin and arginine vasopressin systems in the domestication process Genet. Mol. Biol.
Fam,Bibiana S.O.; Paré,Pamela; Felkl,Aline B.; Vargas-Pinilla,Pedro; Paixão-Côrtes,Vanessa R.; Viscardi,Lucas Henriques; Bortolini,Maria Cátira.
Abstract Domestication is of unquestionable importance to the technological revolution that has given rise to modern human societies. In this study, we analyzed the DNA and protein sequences of six genes of the oxytocin and arginine vasopressin systems (OXT-OXTR; AVP-AVPR1a, AVPR1b and AVPR2) in 40 placental mammals. These systems play an important role in the control of physiology and behavior. According to our analyses, neutrality does not explain the pattern of molecular evolution found in some of these genes. We observed specific sites under positive selection in AVPR1b (ω = 1.429, p = 0.001) and AVPR2 (ω= 1.49, p = 0.001), suggesting that they could be involved in behavior and physiological changes, including those related to the domestication...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Oxytocin and receptors; Vasopressin and receptors; Animal domestication; Molecular evolution; Positive selection.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000200235
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CTLA-4 gene polymorphisms are associated with obesity in Turner Syndrome Genet. Mol. Biol.
Santos,Luana Oliveira dos; Bispo,Adriana Valéria Sales; Barros,Juliana Vieira de; Laranjeira,Raysa Samanta Moraes; Pinto,Rafaella do Nascimento; Silva,Jaqueline de Azevêdo; Duarte,Andréa de Rezende; Araújo,Jacqueline; Sandrin-Garcia,Paula; Crovella,Sergio; Bezerra,Marcos André Cavalcanti; Belmont,Taciana Furtado de Mendonça; Cavalcanti,Maria do Socorro; Santos,Neide.
Abstract Turner syndrome (TS) is characterized by a set of clinical conditions, including autoimmune/inflammatory diseases and infectious conditions, that can compromise a patient’s quality of life. Here we assessed polymorphisms in CTLA-4 +49A/G (rs231775), PTPN22 +1858G/A (rs2476601), and MBL2 -550 (H/L) (rs11003125), -221(X/Y) (rs7096206) and exon 1 (A/O) in women from northeastern Brazil to determine whether polymorphisms within these key immune response genes confer differential susceptibility to clinical conditions in TS. A case-control genetic association study was performed, including 86 female TS patients and 179 healthy women. An association was observed for the A/G genotype of CTLA-4 +49A/G in TS patients (p=0.043, odds ratio [OR]=0.54). In...
Tipo: Info:eu-repo/semantics/article Palavras-chave: CTLA-4 gene; Immune genes; Obesity; Polymorphism; Turner syndrome.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500727
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Development of a comprehensive noninvasive prenatal test Genet. Mol. Biol.
Malcher,Carolina; Yamamoto,Guilherme L.; Burnham,Philip; Ezquina,Suzana A.M.; Lourenço,Naila C.V.; Balkassmi,Sahilla; Antonio,David S. Marco; Hsia,Gabriella S.P.; Gollop,Thomaz; Pavanello,Rita C.; Lopes,Marco Antonio; Bakker,Egbert; Zatz,Mayana; Bertola,Débora; Vlaminck,Iwijn De; Passos-Bueno,Maria Rita.
Abstract Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection. Monogenic disease detection was performed through variant analysis. Model validation was performed using the simulated datasets. The novel model to estimate FF was...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cell-free DNA; Next-generation sequencing; Trisomy; Noninvasive prenatal test; Fetal fraction.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400545
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Gender-specific association of the rs6499640 polymorphism in the FTO gene with plasma lipid levels in Chinese children Genet. Mol. Biol.
Gao,Liwang; Wu,Lijun; Zhang,Meixian; Zhao,Xiaoyuan; Cheng,Hong; Mi,Jie.
Abstract The fat mass- and obesity-associated gene (FTO) is significantly associated with obesity, but the associations of FTO with obesity-related traits are not fully described. We aimed to investigate the association of the FTO single nucleotide polymorphism (SNP) rs6499640 with lipid levels in Chinese children. A total of 3503 children aged 6-18 years were included in the present study. Lipid levels were analyzed and the SNP rs6499640 was genotyped using the TaqMan Allelic Discrimination Assay. Statistically significant associations were found between rs6499640 and low-density lipoprotein cholesterol (LDL-C) (p = 0.008), total cholesterol (TC) (p = 0.005), and triglycerides (TG) (p < 0.001) in girls under a dominant model adjusted for age and BMI....
Tipo: Info:eu-repo/semantics/article Palavras-chave: Children; FTO; Lipid levels.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300397
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Remembering the past – studies on evolution done by the genetics group at Universidade Federal do Rio Grande do Sul (UFRGS) Genet. Mol. Biol.
Salzano,Francisco M..
Abstract After a brief introduction about the factors that are involved in science development, and world and Brazilian evolutionary genetics, the studies developed in Porto Alegre in this area were reviewed. Four periods in the development of this group were distinguished: (a) Origins and first expansion (1949-1961); (b) Second expansion (1962-1988); (c) Third expansion (1989-2001); and (d) The last 15 years (2002-present). The international Porto Alegre Biological Evolution Workshops (PABEWs), with five biannual events from 2007 o 2015, were also mentioned. The final message stressed the importance of the maintenance of this and other Brazilian groups of research through adequate finance and recognition.
Tipo: Info:eu-repo/semantics/other Palavras-chave: History; Genetics research; Evolutionary genetics; Porto Alegre; Brazil.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000200181
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Genetic and phenotypic variability of iris color in Buenos Aires population Genet. Mol. Biol.
Hohl,Diana María; Bezus,Brenda; Ratowiecki,Julia; Catanesi,Cecilia Inés.
Abstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Population genetics; Iris color; Forensic genetics; Phenotype determination; Argentinian population.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100050
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Erratum Genet. Mol. Biol.
Tipo: Info:eu-repo/semantics/other
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000400725
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