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genetic studies » general studies (Expander búsqueda), cytogenetic studies (Expander búsqueda)
para genetic » plant genetic (Expander búsqueda), intra genetic (Expander búsqueda), mama genetica (Expander búsqueda)
1
artículo
Publicado 2019
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Se desarrollaron marcadores de polimorfismo de nucleótido único (SNP) e INDEL (inserción/eliminación) nucleares y cloroplásticos utilizando la secuenciación de ADN asociada a la restricción (RADSeq) y la secuenciación genómica MiSeq de baja cobertura para establecer un método de seguimiento genético del origen geográfico de Hymenaea sp. A partir de dos conjuntos iniciales de 358 y 32 loci utilizados para genotipar al menos 94 individuos, se desarrolló un conjunto final de 75 nSNPs, 50 cpSNPs y 6 INDELs que identifican una estructura poblacional significativa.
2
artículo
Publicado 2019
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Se desarrollaron marcadores de polimorfismo de nucleótido único (SNP) e INDEL nucleares y plastidiales utilizando la secuenciación del ADN asociada a la restricción (RADSeq) y la secuenciación del genoma MiSeq de baja cobertura con fines de genética de poblaciones y seguimiento de la madera en la especie maderera neotropical Jacaranda copaia. Se utilizaron 407 SNPs nucleares, 29 de cloroplasto y 31 de loci mitocondriales para genotipar 92 individuos de Brasil, Bolivia, Guayana Francesa y Perú. Sobre la base de las elevadas tasas de amplificación y la diferenciación genética entre poblaciones, se seleccionaron 113 SNP nucleares, 11 de cloroplasto y 4 loci mitocondriales, y se validó su uso para el seguimiento genético del origen de la madera.
3
artículo
Publicado 2019
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Desarrollamos marcadores de polimorfismo de un solo nucleótido (SNP) y de inserción/deleción (INDEL) para especies de Dipteryx utilizando una combinación de secuenciación de ADN asociada a la restricción (RADSeq) y secuenciación del genoma MiSeq de baja cobertura. Del total de 315 loci genotipados utilizando una plataforma MassARRAY, 292 loci fueron variables y polimórficos entre los 73 individuos muestreados de Guayana Francesa, Brasil, Perú y Bolivia. Se desarrolló un conjunto final de 56 SNPs nucleares, 26 SNPs de cloroplasto, 2 INDELs de cloroplasto y 32 SNPs mitocondriales que identifican una estructura poblacional significativa. Este conjunto de loci será útil para los estudios de genética poblacional de las especies de Dipteryx en la Amazonia.
4
artículo
Pharmacogenetics studies the association between the pharmacological phenotype of an individual with his/her genetic constitution. Case-control studies is a commonly used methodology when performing pharmacogenetics research. This design analyses the frequency of genetic variants in cases; that is, of those patients who have a particular phenotype (outcomes or results) compared with controls. For obtaining adequate methodological quality in pharmacogenetic case-control studies, it is important to work with precise phenotypes, have adequate case and control selection and appropriate sample size; select an adequate methodology for the identification of genetic variants, analyze the results using Hardy-Weinberg Equilibrium (HWE); and interpret the results considering the possibility of a phenoconversion phenomenon.
5
artículo
Publicado 2019
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Se utilizó la secuenciación genómica MiSeq de baja cobertura y la secuenciación de ADN asociada a la restricción (RADseq) para identificar marcadores genéticos SNP e INDEL nucleares y plastídicos en Carapa guianensis. Se describen 261 marcadores genéticos que incluyen 237 SNP nucleares, 22 SNP plastídicos y 2 INDEL plastídicos, basados en 96 individuos genotipados de Guayana Francesa, Brasil, Perú y Bolivia. Los 117 mejores SNPs para identificar la estructura de la población y realizar la asignación de individuos se reúnen en cuatro multiplex para el genotipado MassARRAY.
6
artículo
Publicado 2022
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Heart disease is the cause of sudden death in more than 80% of cases. Ischemic heart disease is the cause for 90% of all sudden cardiac deaths, while in the remaining 10% of cases, heart diseases have a hereditary origin and comprise a wide spectrum of disorders that include cardiomyopathies and channelopathies. The aim of this review is to highlight the importance of genetic counseling for patients with hereditary cardiovascular disease and its evaluation by a multidisciplinary team.
7
artículo
Pharmacogenetics studies the association between the pharmacological phenotype of an individual with his/her genetic constitution. Case-control studies is a commonly used methodology when performing pharmacogenetics research. This design analyses the frequency of genetic variants in cases; that is, of those patients who have a particular phenotype (outcomes or results) compared with controls. For obtaining adequate methodological quality in pharmacogenetic case-control studies, it is important to work with precise phenotypes, have adequate case and control selection and appropriate sample size; select an adequate methodology for the identification of genetic variants, analyze the results using Hardy-Weinberg Equilibrium (HWE); and interpret the results considering the possibility of a phenoconversion phenomenon.
8
artículo
Publicado 2020
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The study had as a general objective, to validate based on a critical and structured analysis the evidence of glaucoma genetics. The research focus was qualitative, interpretive hermeneutical design; the population made up of a set of documents and treatises on the variable under study; the technique used was the documentary and content analysis, the instruments used were the content analysis matrix and bibliographic record; which analyzed the information collected. Among the main conclusions it was found that congenital glaucoma (GC) is caused by abnormal growth in terms of aqueous humor drainage formation. In addition, GC is associated with different disease subtypes such as primary open angle glaucoma. The relevance of being able to identify the genes that cause glaucoma is a first step in understanding this disease. For this reason, there are different etiologies which relate the gen...
9
artículo
Publicado 2020
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The study had as a general objective, to validate based on a critical and structured analysis the evidence of glaucoma genetics. The research focus was qualitative, interpretive hermeneutical design; the population made up of a set of documents and treatises on the variable under study; the technique used was the documentary and content analysis, the instruments used were the content analysis matrix and bibliographic record; which analyzed the information collected. Among the main conclusions it was found that congenital glaucoma (GC) is caused by abnormal growth in terms of aqueous humor drainage formation. In addition, GC is associated with different disease subtypes such as primary open angle glaucoma. The relevance of being able to identify the genes that cause glaucoma is a first step in understanding this disease. For this reason, there are different etiologies which relate the gen...
10
artículo
Publicado 2025
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Background & aims: Cardiometabolic traits are complex interrelated traits that result from a combination of genetic and lifestyle factors. This study aimed to assess the interaction between genetic variants and dietary macronutrient intake on cardiometabolic traits [body mass index, waist circumference, total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol, triacylglycerol, systolic blood pressure, diastolic blood pressure, fasting serum glucose, fasting serum insulin, and glycated haemoglobin]. Methods: This cross-sectional study consisted of 468 urban young adults aged 20 ± 1 years, and it was conducted as part of the Study of Obesity, Nutrition, Genes and Social factors (SONGS) project, a sub-study of the Young Lives study. Thirty-nine single nucleotide polymorphisms (SNPs) known to be associated with cardiometabolic traits at a genome-w...
11
artículo
Publicado 2024
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In animal characterization research it is essential to establish ranges of typical and fluctuating behaviours of its variables and parameters. For this, the use of robust statistical inferences constitutes a relevant tool. Thus, the study of body traits in a rustic dual-purpose avian population was approached, through correlation and principal component analysis (PCA), contributing to its morphometric characterization and verifying the usefulness of the statistical methods used in a small group. In total, 52 chickens (males and females) were evaluated, classified as adults and older adults, analysing a series of quantitative traits. An association was found between live weight and skull width, middle finger length, wing length (p < 0.01), back length, keel length, breast width, beak length and tarsus length (p<0.05), in adult males, while for older birds calculations are suggested ...
12
artículo
Publicado 2007
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Introduction: Dopaminergic catechol-o-methyl transferase (COMT) gene has a functional polymorphism Val108/158Met that originates enzyme variants that catalyze o-methylation of active catecholamines and participates in drugs and neurotransmitters metabolism including L-dopa, norepinephrine, epinephrine and dopamine and thus may be associated to neuropsychiatric conditions. Objectives: To determine COMT gene genotypes and alleles frequencies in mestizo Peruvian population healthy subjects and its importance in neuropsychiatric genetic studies. Design: Descriptive, observational, transversal study. Setting: Alberto Guzman Barron Biochemistry and Nutrition Research Center, Faculty of Medicine, Universidad Nacional Mayor de San Marcos. Participants: One hundred and six healthy subjects, male and female volunteers with informed consent, without family relationship or mental and neurological di...
13
artículo
Publicado 2023
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Dyslexia is a disorder in the written use of language due to visuospatial weakness in the perception of linguistic forms. This paper postulates that a possible functional characterization of the deficits of a linguistic nature in patient speakers who present dyslexia when a full acquisition of reading and writing is not yet assumed will favor both the diagnosis and the intervention proposal. To demonstrate this hypothesis, we study the case of two twin patient-speakers who share the diagnosis of dyslexia, with the aim of checking the genetic-hereditary nature of the pathology and proposing specific therapies based on linguistic functional analysis. We thus present the theoretical framework that allows the historical knowledge and definitions offered on this disorder, the difficulties involved in its etiology, and the different models of intervention that currently exist to alleviate it. ...
14
artículo
Publicado 2017
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The aim of this study was to analyse the genetic structure of domestic cats (Felis catus) in rural environments in Lorica, Colombia using morphological markers of colour. A phenotypic classification was made of 134 individuals distributed in three populations, attending to the presence or absence of the autosomal markers Non-agouti, Blotched tabby, Dilution, White spotting, Dominant white and the marker Orange linked to sex. The Blotched tabby marker was the most frequent and showed a possible natural selection, while Dominant white showed the lowest values. Populations showed absence of Hardy-Weinberg equilibrium. Moreover, an excess of homozygotes was evident, and differences between populations and scarce gene flow between populations was found. Polymorphism of genes that encode the colour of cats in rural habitats likely differ from domestic conditions in urban environment.
15
artículo
Publicado 2017
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The aim of this study was to analyse the genetic structure of domestic cats (Felis catus) in rural environments in Lorica, Colombia using morphological markers of colour. A phenotypic classification was made of 134 individuals distributed in three populations, attending to the presence or absence of the autosomal markers Non-agouti, Blotched tabby, Dilution, White spotting, Dominant white and the marker Orange linked to sex. The Blotched tabby marker was the most frequent and showed a possible natural selection, while Dominant white showed the lowest values. Populations showed absence of Hardy-Weinberg equilibrium. Moreover, an excess of homozygotes was evident, and differences between populations and scarce gene flow between populations was found. Polymorphism of genes that encode the colour of cats in rural habitats likely differ from domestic conditions in urban environment.
16
artículo
Publicado 2017
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Introduction: Preimplantational genetic studies are used to achieve a better implantation rate and live birth, as well as to decrease the abortion rate; these techniques should be evaluated. Objective: To evaluate preimplantational embryo development in donor oocyte in vitro fertilization cycles with genetic studies. Design: Retrospective cohort study. Setting: Pranor Laboratory, 2008-2013. Material: In vitro fertilization with ovodonation (IVF-OD) cycles. Interventions.: 2 077 cycles of IVF-OD were evaluated, separated in 3 cohorts: Cohort 1, cycles with embryo biopsy on day 3, by means of an incision in the zona pellucida (ZP), for excision of a blastomer (n = 527); Cohort 2, cycles with a laser incision at day 4 of embryo development, for biopsy of the trophoblast in the blastocyst stage (n = 131) and; cohort 3, FIV-OD cycles without any intervention (n = 1 419). Main outcome measures...
17
artículo
Publicado 2022
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The aim of this study was to evaluate the genetic diversity of the Mexican criollo donkey with SNP-type genetic markers. Sixteen individuals (eight males and eight females) were randomly sampled and genotyped using the GGP Equine 70K chip (71 947 loci). Within chromosome the polymorphic SNPs were identified, determining the expected (He) and observed (Ho) heterozygosity, polymorphic information content (PIC), the fixation index (FIS) and the Hardy-Weinberg equilibrium (HW). Linkage disequilibrium was assessed based on the correlation (r2) between frequencies across loci. An analysis of molecular variance (AMOVA) and a cluster study were performed to infer the number of clusters (k). It was found that 3579 loci (4.9%) presented genetic variability, but 24.9% presented HW disequilibrium (p<0.05). Across chromosomes, the number of polymorphic loci ranged from 50 to 269 with a mean of 11...
18
artículo
Preimplantation genetic diagnosis (PGD) is the study of chromosomal or genetic alterations in the human embryo before transfer to the mother. It determines those embryos free of chromosomal abnormalities or genetic mutations. This review describes the 5-year experience including 711 cycles of an assisted reproduction center in Peru, performing PGD to embryos on day 3 of development. Preimplantation genetic diagnosis would be an effective tool to select embryos with higher implantation potential, which may lead to a healthy live birth.
19
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Preimplantation genetic diagnosis (PGD) is the study of chromosomal or genetic alterations in the human embryo before transfer to the mother. It determines those embryos free of chromosomal abnormalities or genetic mutations. This review describes the 5-year experience including 711 cycles of an assisted reproduction center in Peru, performing PGD to embryos on day 3 of development. Preimplantation genetic diagnosis would be an effective tool to select embryos with higher implantation potential, which may lead to a healthy live birth.
20
artículo
Publicado 2014
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Cocoa farming is one of the most important activities in the Peruvian Amazon. Its genetic basis is supported by the introduction of improved clones, so that the local genetic potential are in germplasm bank is not well used due to limited breeding study. This study aimed to estimate the repeatability for the genetic selection of high-yield trees with aromatic cocoa beans. Genetic selection analysis was executed with the SOFTWARE SELEGEN REML / BLUP in a 3-year data for assessing grain yield kg / tree, average grain weight (g) and average weight of cobs (kg) in the bank germplasm INIA-San Martin and Lebuaf Conservation Unit SAC (Plantation Maria). The individual repeatability grain yield / tree and average grain weight was moderate (0.52) and (0.30) respectively, which did not happen for the repeatability of the variable average cob weight was low with (0.24). The variable was more stable...
