Consulta: subjectFacets:"Phenotype"
Registros recuperados: 25
Data/hora: 03/06/2024 05:09:52

Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta
Provedor de dados: 74
Autores: Gutiérrez,Sandra; Torres,Diana; Briceño,Ignacio; Gómez,Ana Maria; Baquero,Eliana.
In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI) that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Amelogenesis imperfecta; ENAM gene; Hypocalcified; Hypoplasic; Phenotype.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400003

Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele
Provedor de dados: 74
Autores: Polizzi,Angela; Tesse,Riccardina; Santostasi,Teresa; Diana,Anna; Manca,Antonio; Logrillo,Vito Paolo; Cazzato,Maria Domenica; Pantaleo,Maria Giuseppa; Armenio,Lucio.
Cystic fibrosis (CF) is caused by CFTR (cystic fibrosis transmembrane conductance regulator) gene mutations. We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy. The genotype-phenotype relationship in patients bearing this complex allele was investigated. The two associated mutations were related to classical severe CF phenotypes.
Tipo: Info:eu-repo/semantics/other
Palavras-chave: CFTR; Complex allele; Cystic fibrosis; Phenotype.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300008

Biochemical and molecular investigations on qualitative and quantitative Hb polymorphism in the river buffalo (Bubalus bubalis L.) population reared in Southern Italy
Provedor de dados: 74
Autores: Iorio,Mario; Vincenti,Donatella; Annunziata,Mario; Rullo,Rosario; Bonamassa,Raffaele; Di Luccia,Aldo; Pieragostini,Elisa.
On 398 river buffalo samples, randomly collected in distinct breeding areas of the Campania region, high-resolution analytical systems were used to identify both qualitative and quantitative variations of the Hb phenotype. Polyacrylamide gel isoelectric focusing and HPLC were used to determine the ratio between HBA1 and HBA2 globin chains; restriction endonuclease analysis was performed to assess whether quantitative variations in Hb bands were related to an unusual number of a-globin genes. In the two buffalo subpopulations, allele frequencies of the alpha and beta globin systems were calculated, and F statistics (FIS, FIT and FST) were estimated as parameters of genetic diversity. The results suggest that: i) as shown by RFLP analysis, only a couple of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Phenotype; RFLP; Globin genes; Haplotype; Gene frequencies.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000200007

Banco de Dados de Genótipos e Fenótipos (BDGF) para suporte a estudos de associação genômica ampla e seleção genômica em programas de melhoramento animal.
Provedor de dados: 14
Autores: HIGA, R. H.; OLIVEIRA, G. B. de.
Este documento complementa os trabalhos previamente desenvolvidos, apresentando um modelo de dados para armazenamento de dados de genótipos, fenótipos e pedigree de animais de interesse agropecuário para suporte tanto a experimentos de GWAS quanto a programas de melhoramento genético animal, Banco de Dados de Genótipos e Fenótipos(BDGF).
Tipo: Documentos (INFOTECA-E)
Palavras-chave: Associação genômica; Genome-wide association studies.; Genótipo; Fenótipo; Melhoramento Animal.; Genotype; Phenotype; Genetic improvement.
Ano: 2015
URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1022327

Odometria visual com SVO e sua aplicação em reconstrução tridimensional.
Provedor de dados: 14
Autores: SANTOS, T. T.
O presente trabalho analisa um método recentemente proposto na literatura para odometria visual em tempo real, isto é, a localização espacial em tempo real obtida somente a partir de imagens geradas por uma câmera acoplada ao equipamento, e sua aplicabilidade em problemas de reconstrução tridimensional de objetos.
Tipo: Documentos (INFOTECA-E)
Palavras-chave: Odometria visual; Reconstrução 3D; Reconstrução tridimensional; Fenotipagem de plantas; Navegação robótica; Semi-direct Visual Odometry; Phenotype.
Ano: 2014
URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1011987

Utilizando o formato JSON para armazenar dados do sistema BDGF no PostgreSQL.
Provedor de dados: 14
Autores: VIEIRA, F. D.
Neste documento, será apresentada uma contribuição da Embrapa Informática Agropecuária quanto ao uso do tipo de dados JSON no PostgreSQL, sua integração com a linguagem Java e um pequeno tutorial mostrando como trabalhar com o tipo JSON no PostgreSQL.
Tipo: Documentos (INFOTECA-E)
Palavras-chave: Marcadores moleculares; Diagrama entidade-relacionamento; NoSQL; MongoDB; Java; Sistema Banco de Dados de Genótipos e Fenótipos; Genetic markers; Genotype; Phenotype.
Ano: 2016
URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1065251

Manual de uso do Sistema BDGF.
Provedor de dados: 14
Autores: VIEIRA, F. D.
Neste documento apresentamos um manual de uso das principais funcionalidades do sistema BDGF, seja para usuários atuais ou para pessoas interessadas em como trabalhar com esse software web para armazenamento e recuperação de dados fenotípicos e genotípicos de animais.
Tipo: Documentos (INFOTECA-E)
Palavras-chave: Banco de Dados de Genótipos e Fenótipos; Sistema BDGF; Genótipo; Fenótipo; Melhoramento Animal; Genotype; Phenotype; Computer software.
Ano: 2019
URL: http://www.infoteca.cnptia.embrapa.br/infoteca/handle/doc/1115483

Crossing phenotype heritability and candidate gene expression in grafted black-lipped pearl oyster Pinctada margaritifera, an animal chimera
Provedor de dados: 5
Autores: Blay, Carole; Planes, Serge; Ky, Chin-long.
Grafting mantle tissue of a donor pearl oyster into the gonad of a recipient oyster results in the formation of a chimera, the pearl sac. The phenotypic variations of this chimera are hypothesized to be the result of interactions between the donor and recipient genomes. In this study, the heritability of phenotypic variation and its association with gene expression were investigated for the first time during P. margaritifera pearl production. Genetic variance was evaluated at different levels, 1) before the graft operation (expression in graft tissue), 2) after grafting (pearl sac tissue expression in chimera) and 3) on the product of the graft (pearl phenotype traits) based on controlled bi-parental crosses and the F1 generation. Donor related genetic...
Tipo: Text
Palavras-chave: Gene expression; Heritability; Pearl oyster; Phenotype; Pinctada margaritifera.
Ano: 2018
URL: https://archimer.ifremer.fr/doc/00433/54505/55876.pdf

Inter and intra-specific transcriptional and phenotypic responses of   Pseudo-nitzschia   under different nutrient conditions
Provedor de dados: 5
Autores: Lema, Anais Kimberley; Metegnier, Gabriel; Quéré, Julien; Latimier, Marie; Youenou, Agnes; Lambert, Christophe; Fauchot, Juliette; Le Gac, Mickael.
Untangling the functional basis of divergence between closely related species is a step towards understanding species dynamics within communities at both the evolutionary and ecological scales. We investigated cellular (i.e: growth, domoic acid production, nutrient consumption) and molecular (transcriptomic analyses) responses to varying nutrient concentrations across several strains belonging to three species of the toxic diatom genus Pseudo-nitzschia. Three main results were obtained. First, strains from the same species displayed similar transcriptomic, but not necessarily cellular, responses to the experimental conditions. It showed the importance of considering intra-specific diversity to investigate functional divergence between species. Second, a...
Tipo: Text
Palavras-chave: Phenotype; Transcriptomics; Pseudo-nitzschia; Divergence; Nutrients.
Ano: 2019
URL: https://archimer.ifremer.fr/doc/00482/59392/62157.pdf

Variation in cultured pearl quality traits in relation to position of saibo cutting on the mantle of black-lipped pearl oyster Pinctada margaritifera
Provedor de dados: 5
Autores: Ky, Chin-long; Nakasai, Seiji; Parrad, Sophie; Broustal, Floriane; Devaux, Dominique; Louis, Patricia.
Cultured pearl production from Pinctada margaritifera uses the biomineralization capacities of the mantle graft, the saibo, which is usually obtained from only the middle mantle section of the donor oyster. To evaluate the potential for using other parts of the mantle, this study explores and describes the cultured pearl quality traits, pearl size, shape, surface defects and colour parameters obtained with saibo from the entire length of the mantle, comprising the four following sections: 1) posterior, 2) connection with the gills, 3) middle, (the section usually used commercially), and 4) anterior. Rates of nucleus retention and oyster mortality were also recorded and compared between sections. For this, two experimental grafts were designed and conducted...
Tipo: Text
Palavras-chave: Pinctada margaritifera; Pearl oyster; Pearl quality traits; Saibo position; Mantle tissue; Phenotype.
Ano: 2018
URL: https://archimer.ifremer.fr/doc/00439/55030/56461.pdf

Respiratory function in healthy first-degree relatives of asmathic adolescents
Provedor de dados: 46
Autores: Pereira,C; Veiga,N; Barros,H.
Asthma is a complex disease associated with biological and physiological phenotypes. The objective of this study was to compare the respiratory function in healthy first-degree relatives of asthmatic and non-asthmatic adolescents. We used a cross-sectional approach to assess 101 family cases (presence of one or more adolescents classified as asthmatic) and 275 stable families (families without adolescents classified as asthmatic). We obtained a final sample of 822 relatives. The respiratory function was evaluated by the forced expiratory volume in 1 second (FEV), and the forced vital capacity (FVC), using the Microlab 3300® Spirometer. A self-administered questionnaire was used to record upper and lower airway symptoms, allergic symptoms and medical...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Asthma; Respiratory function; Genetic factors; Environmental factors; Phenotype.
Ano: 2013
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332013000300003

Phenotypic plasticity and fitness in egg parasitoids
Provedor de dados: 82
Autores: Boivin,Guy.
Several proxies can be used to estimate the fitness of egg parasitoids: size, longevity, fecundity, mating ability and vagility. All these proxies are positively correlated with the lifetime fitness gain of an individual. However, the phenotypic plasticity, which is the ability of a genotype to produce distinct phenotypes depending on environmental conditions, may alter the value of these proxies. Host related factors (host species and quality), competition and duration of development will influence the proxies expressed by a given phenotype. When the phenotype is modified by the temperature at which an individual develops, the resulting phenotype will vary based on the life history strategy of the parasitoid. While in koinobiont species an increase in...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Fitness; Proxy; Reproduction; Longevity; Phenotype.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2010000400001

Color polymorphism and allele frequency in a Brazilian population of the sunflower caterpillar Chlosyne lacinia saundersi (Doubleday) (Lepidoptera: Nymphalidae)
Provedor de dados: 82
Autores: Lopes-da-Silva,Marcelo; Casagrande,Mirna M.
The aim of this work was at calculating allele frequency color polymorphism in a population of sunflower caterpillar, Chlosyne lacinia saundersi (Doubleday) from Londrina, Paraná State, Brazil. Allele frequency in insect populations can be used as genetic marker to compare populations from different geographical and host origins. There are three phenotypes conditioned by two loci interacting epistatically. The phenotypes are: rufa (oranged colored larvae), bicolor (black larvae with dorsal orange stripes) and nigra, larvae with the body entirely black, sometimes with dorsal yellow dots, best seen in the fourth and fifth instars. Samples were taken independently in an attempt to obtain all combinations of crossing among genotypes. The genetic mechanism of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Epistasis; Population genetics; Ecological genetics; Phenotype.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1519-566X2003000100025

トキソプラズマ溶解抗原(TLA)で誘導されるマウス脾臓内の細胞障害性細胞の性質
Provedor de dados: 19
Autores: MIYAHARA, Kazuro; MATSUMOTO, Toru; TOSE, Shinichi; SAKURAI, Haruhisa; IGARASHI, Ikuo; SAITO, Atsushi; HIROSE, Tsuneo; SUZUKI, Naoyoshi; 宮原, 和郎; 五十嵐, 郁男.
Spleen cells from Toxoplasma lysate antigen (TLA)-sensitized BALB/c mice showed the strong cytotoxic activity against both natural killer (NK)-sensitive cells (YAC-1 and RL♂-1) and NK-insensitive cells (P-815), when incubated with TLA or recombinant human IL-2 (rhIL-2). The increment of TLA concentration in culture medium increased the cytotoxic activity. Treatment of effector cells; spleen cells from TLA-sensitized mice incubated with TLA, with anti-asialo GM1 or anti-Thy-1 plus complement inhibited the cytotoxic activity of effector cells, whereas treatment with anti-mouse Lyt-2.2 serum plus complement had no effect on the cytotoxic activity. Treatment of spleen cells from TLA-sensitized mice with anti-asialo GM1 and/or anti-Thy-1 plus complement...
Palavras-chave: Cytotoxic activity; Mouse; Phenotype; Spleen cell; Toxoplasma lysate antigen.
Ano: 1992
URL: http://ir.obihiro.ac.jp/dspace/handle/10322/4063

Phenotypic features of Helicina variabilis (Gastropoda: Neritimorpha) from Minas Gerais, Brazil
Provedor de dados: 84
Autores: Simone,Luiz Ricardo L.
Abstract Helicina variabilis Wagner, 1827 (Neritimorpha, Helicinidae) is redescribed based on a sample collected in Nanuque, northern Minas Gerais, Brazil. The species description, previously based only on the shell, is expanded to the phenotypic features. The study revealed absorption of the internal shell whorls; a diaphragm muscle connected to the floor of the pallial cavity; a monoaulic pallial oviduct, with the female genital aperture inside the anal aperture, and the lack of a seminal receptacle and provaginal sac; and the pleural ganglia of the nerve ring connected with each other. The significance of these findings is discussed in the light of current taxonomic and phylogenetic knowledge.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Atlantic Rainforest; Helicinidae; Anatomy; Morphology; Phenotype.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0031-10492018000100230

Genetic improvement of beef cattle through opportunities in genomics
Provedor de dados: 96
Autores: Miller,Stephen.
Genomics will improve the efficiency of beef cattle genetic improvement programs through the incorporation of genomic predictions into traditional genetic evaluations. The global dairy cattle breeding industry has been changed considerably in the last year through the implementation of genomic selection. Now proven to work in dairy cattle breeding, the challenge remains for the beef industry to successfully implement this technology. The primary challenge in beef cattle is the required resource population that relates genomic profile to phenotypic performance, which is quite large and its establishment will require collaboration or a significant investment by any one enterprise. Another challenge in beef cattle is the requirement for genomic predictions to...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Breeding strategies; DNA; Genomic selection; Phenotype; Recording; Single nucleotide polymorphisms.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982010001300027

Morphological variation of Cosmos bipinnatus (Asteraceae) and its relation to abiotic variables in central Mexico
Provedor de dados: 97
Autores: Paniagua-Ibánez,Maribel; López-Caamal,Alfredo; Mussali-Galante,Patricia; Sánchez-Salinas,Enrique; Ortiz-Hernández,Ma. Laura; Ramírez-Rodríguez,Rolando; Tovar-Sánchez,Efraín.
BACKGROUND: Morphological variability can lead to serious taxonomic problems in species with wide distribution ranges. Although morphological variability is partly due to ontogenetic programming, abiotic variables can also exert a significant effect on micro- and macromorphological characters. in this paper, we studied the morphological variability (43 characters) of Cosmos bipinnatus associated to different vegetation types in central Mexico. We searched for significant correlations between the overall morphology of C. bipinnatus and abiotic variables such as altitude and soil parameters (pH, organic matter content, NH4,NO3,PO4, total N and total P content). We also analyzed the Simplified Relative Distance Plasticity index (RDPIs). RESULTS: Locality had...
Tipo: Journal article
Palavras-chave: Macromorphology; Micromorphology; Phenotype; Phenotypic plasticity reproductive character; Vegetative character.
Ano: 2015
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-078X2015000100014

Coat survey and Quarter reproductive age used in Vaquejada in Northeast micro-regions
Provedor de dados: 22
Autores: Bastos, Marisa Silva; Rezende, Marcos Paulo Gonçalves; Souza, Julio Cesar; Leite, Maybe Carneiro Paula; Figueiredo, Gabriel Chaves.
Aimed to evaluate the coat and Quarter reproductive age used in equine production used in Vaquejada in micro regions of the Northeast. They used information from 264 horses, taken from the database of the Association of Quarter Horse Breeders (ABQM). Were collected individual information: date of birth, sex and animal fur, number of copies of disputed official Vaquejada, better and worse placed, cumulative score in ABQM, coats and dates of parents' birth (31), coats and birth dates mothers (257). There was a higher frequency (P&lt;0.05) of births between the months of September and October. There was no age-specific greater use of stallions or matrix playback (P&gt;0.05). There was no correlation (P&gt;0.05) between the number of children and the stallion...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Equus caballus; Equestrian sport; Phenotype; Longevity; Reproduction.
Ano: 2017
URL: http://e-revista.unioeste.br/index.php/scientiaagraria/article/view/13675

Genetic control of seed dormancy and pre-harvest sprouting in wheat
Provedor de dados: 63
Autores: Andreoli,Claudinei; Bassoi,Manoel Carlos; Brunetta,Dionisio.
Pre-harvest sprouting (PHS) damage leads to occasional massive losses in all wheat producing areas, causing downgrading of grain quality, that severely limits end-use applications and results in substantial financial losses to farmers and food processors. Red grain color is a traditional marker for resistance to sprouting in wheat breeding programs, however red-grained genotype alone does not always guarantee effective resistance. The objective of this work was to find genes for resistance to PHS and investigate its inheritance in Brazilian wheat cultivars. Genetic variation for dormancy was investigated in the parents, F1 and 300 F2 lines derived from the cross Frontana × OR1 and its reciprocal. The germination/dormancy sprouted grains was evaluated on...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: Triticum aestivum; QTL; Alpha-amylase; Digenic model; Phenotype.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-90162006000600009

Genetic diversity among Brazilian okra landraces detected by morphoagronomic and molecular descriptors
Provedor de dados: 1
Autores: Massucato, Luana Rainieri; Nakamura, Karina Kazue; Ruas, Paulo Mauricio; Zefa, Douglas Mariani; Silva, Derly José Henrique da; Gonçalves, Leandro Simões Azeredo.
The conservation of okra landraces [Abelmoschus esculentus (L.) Moench] in gene banks is essential for the success of their use in breeding programmes. This study evaluated the genetic diversity among okra landraces in Brazil based on morphoagronomic descriptors and AFLP markers. We studied 30 accessions of the vegetable gene bank of the Universidade Federal de Viçosa. To this end, 17 morphoagronomic descriptors and five combinations of AFLP primers were used. Genetic parameters were estimated for the quantitative traits and the accessions were grouped by Ward’s method, using the Gower’s and Jaccard’s distance measures, respectively, for the morphoagronomic and molecular data. Polymorphisms were observed for all qualitative traits, while the quantitative...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Genetic variability; Molecular markers; Phenotype; Bayesian analysis.; Recursos Genéticos.
Ano: 2019
URL: http://periodicos.uem.br/ojs/index.php/ActaSciAgron/article/view/43426

Cross-disciplinary approaches for measuring parasitic helminth viability and phenotype
Provedor de dados: 42
Autores: Peak,Emily; Hoffmann,Karl F.
Parasitic worms (helminths) within the Phyla Nematoda and Platyhelminthes are responsible for some of the most debilitating and chronic infectious diseases of human and animal populations across the globe. As no subunit vaccine for any parasitic helminth is close to being developed, the frontline strategy for intervention is administration of therapeutic, anthelmintic drugs. Worryingly, and unsurprising due to co-evolutionary mechanisms, many of these worms are developing resistance to the limited compound classes currently being used. This unfortunate reality has led to a renaissance in next generation anthelmintic discovery within both academic and industrial sectors. However, a major bottleneck in this process is the lack of quantitative methods for...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Helminth; Schistosome; Nematode; Viability; Phenotype.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652011000200024

Relationships between residual feed intake and feedlot performance, profitability, and carcass traits in Brahman cattle
Provedor de dados: 45
Autores: Favero,R.; Mizubuti,I.Y.; Gomes,R.C.; Ribeiro,E.L.A.; Pereira,E.S.; Prado-Calixto,O.P.P.; Massaro Júnior,F.L.; Santos,A.P.S.
ABSTRACT The present study aimed to evaluate the feedlot performance, profitability and carcass traits of Brahman bulls classified according to the residual feed intake (RFI). Twenty-four bulls (19-month old, 370±34kg live weight) were housed in individual pens for 54 days and had the daily feed intake (observed dry matter intake, DMIobs; DMI % live weight, LW) and average daily gain (ADG) measured. Ultrasound carcass evaluations were performed at the initial and final weighings, when measurements were taken of Longissimus dorsi area, ratio, Longissimus and Biceps femoris fat thickness. The animals were ranked and divided into high (&gt;+0.5 standard deviation; SD), medium (between ±0.5 SD from the mean), and low (&lt;-0.5 SD) RFI groups. Low-RFI animals...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Bos indicus; Feed conversion ratio; Musculature; Phenotype.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352018000200525

SNPs rs471462296, rs456245081 and rs438495570 in the 5’UTR region of DGAT1 gene in Nelore
Provedor de dados: 45
Autores: Freire,K.M.B.; Silva,C.C.; Duarte,S.S.M.; Teodoro,L.S.; Costa,E.O.A.; Silva,D.C.; Godoy,F.R.; da Cruz,A.D.; da Cruz,A.S.
RESUMO O objetivo desta pesquisa foi avaliar os SNPs rs471462296, rs456245081 e rs438495570 do gene DGAT1 em bovinos Nelore. Foram analisados 109 bovinos. A extração do DNA genômico foi realizada do sangue dos animais, usando-se o kit Ilustra Blood Genomic Prep Mini Spin® (GE Healthcare, UK). A concentração e o grau de pureza do DNA foram determinados por meio de espectrofotômetro (Nanodrop - Thermo Fisher Scientifc, USA). A genotipagem dos SNPs ocorreu mediante o emprego do ensaio Taqman® (Applied Biosystems, USA). Na análise genômica, não foram encontradas alterações nas frequências alélicas e genotípicas (P≥0,05) para os SNPs testados. Dessa forma, a região 5’UTR analisada apresentou-se monomórfica e a variação de SNPs não foi observada, o que limita...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Bovine; Phenotype; Genotype; Selection.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0102-09352019000200720

Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia
Provedor de dados: 56
Autores: Torres,N.; Mello,M.P.; Germano,C.M.R.; Elias,L.L.K.; Moreira,A.C.; Castro,M.
Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the CYP21A2 gene in 50 Brazilian patients with the classical (salt wasting: SW and simple virilizing: SV) forms and nonclassical (NC) form of CAH-21OH and correlated genotype with phenotype. Genotypes were classified into three mutation groups (A, B, and C) based on the amount of enzymatic activity in in vitro studies using adrenal cells. In 94 unrelated alleles, we diagnosed 76% of the affected alleles after screening for 7 microconversions. The most frequent point mutations observed in this series were I172N (19%), V281L (18%), and IVS2,A/C&gt;G,-12 (15%). In the SW form, the most...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: 21-Hydroxylase; Mutation; Microconversion; Genotype; Phenotype; Congenital adrenal hyperplasia.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000006

21-Hydroxylase deficiency in Brazil
Provedor de dados: 56
Autores: Bachega,T.A.S.S.; Billerbeck,A.E.C.; Madureira,G.; Marcondes,J.A.M.; Longui,C.A.; Leite,M.V.; Arnhold,I.J.P.; Mendonça,B.B.
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series described, whereas the frequency of large gene conversions was similar to the frequency reported in the literature (6.6%). The most frequent point mutations were I2 splice (41.8% in salt wasting - SW), I172N (32.6% in simple virilizing - SV) and V281L (40.2% in the late onset form - LO). The frequency of the nine most common point mutations was similar to that reported for other countries. The 93 fully genotyped patients were classified into 3 mutation groups based on the degree of enzymatic activity...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: 21-hydroxylase deficiency; Congenital adrenal hyperplasia; Brazilian patients; CYP21 mutations; Genotype; Phenotype.
Ano: 2000
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2000001000011