Heterozygosis
Mostrando 13-24 de 41 artigos, teses e dissertações.
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13. Caracterização molecular de pacientes com suspeita de doença de Von Willebrand tipo 2N e diagnostico diferencial entre casos de hemofilia A / Molecular assessment of suspect patients of type 2N Von Willebrand disease and differential diagnostic between hemophilia A cases
The von Willebrand disease (VWD) is the most frequently hemorrhagic disease. Among the different types of VWD, the type 2N VWD is characterized by a markedly decreased affinity of von Willebrand factor (VWF) to factor VIII (FVIII). As consequence, the clearance of FVIII is accelerated and these patients while maintaining the concentration of VWF and its abil
Publicado em: 2010
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14. Pólipos endometriais na pós-menopausa: Aspectos clínicos, epidemiológicos e pesquisa do polimorfismo do receptor da progesterona (PROGINS). / Endometrial polyps in postmenopause: Clinical and epidemiological aspects and the presence of progesterone receptor polymorphism (PROGINS).
Purpose: To evaluate the genetic polymorphism of the progesterone receptor (PROGINS), as well as clinical and epidemiological risk factors for endometrial cancer in postmenopausal women with endometrial polyps. Methods: A case control study was designed with 154 postmenopausal women with endometrial polyps, compared to a normal control group of 400 postmenop
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 26/08/2009
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15. Analysis of the SLC4A1 gene in three Mexican patients with hereditary spherocytosis: report of a novel mutation
We analyzed the SLC4A1 gene in three Mexican patients with Hereditary Spherocytosis (HS). The promoter and all 20 exons were investigated through heteroduplex analysis and DNA sequencing. No DNA changes were detected in one of the three patients. Two well-known polymorphisms, Memphis I and the Diego-a blood group, were detected in another one. In the third,
Genetics and Molecular Biology. Publicado em: 18/12/2009
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16. Hemoglobinas variantes em doadores de sangue do Centro de Hematologia e Hemoterapia do estado do Piauí (Hemopi): conhecendo o perfil epidemiológico para construir a rede de assistência
The most highly prevalent inherited disease in Brazil and in the world, sickle cell anemia, is considered a public health problem. Characterized by homozygosis for the hemoglobin S gene, the individual has a range of signs and symptoms that require careful treatment. The sickle cell trait is characterized by heterozygosis for the hemoglobin S gene, however t
Revista Brasileira de Hematologia e Hemoterapia. Publicado em: 2009
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17. PRE AND POST WEANING PERFORMANCE EVALUATION FOR A MULTIBREED ABERDEEN ANGUS X NELLORE POPULATION USING DIFFERENT GENETIC MODELS / AVALIAÇÃO DO DESEMPENHO NA PRÉ E PÓS DESMAMA PARA UMA POPULAÇÃO BOVINA MULTIRRACIAL ABERDEEN ANGUS X NELORE UTILIZANDO DIFERENTES MODELOS GENÉTICOS
The objective of this study was to estimate the genetic effects that affect the pre and post weaning performances of animals, products from Aberdeen Angus (A) and Nellore (N) breeds crosses. In Article 1, there were used the weaning weights (PD) to test five genetic models (M). The M1, complete, containing the fix breed genetic effects direct additive (AD) a
Publicado em: 2009
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18. Análise comparativa da variação genética entre os estoques cultivado e natural de Prochilodus argenteus : implicações para o repovoamento de rios
Introduction of hatchery fish in river has been the major using strategy for river fishery rehabilitation, working to attenuate river damage in short time. But there are effective risks about their efficiency and results, concerning the pool gene preservation and illness proliferation, beyond others ecologies and economics aspects. At São Francisco river, d
Publicado em: 2009
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19. Obtaining molecular markers for prognostic and diagnosis of cutaneous malignant melanoma. / Obtenção de marcadores moleculares para prognóstico e diagnóstico de melanoma cutâneo maligno.
The incidence of malignant skin melanoma (MM) increases around 2,5 a 4% each year in the world. The main risk factors are family history of MM, multiple benign or atypical nevi, and additional factors such as immunossuppression, sun sensibility and UV exposure. Genomic instability is responsible for a collection of mutations that are frequently involved in m
Publicado em: 2009
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20. Estudo da etiologia da surdez neurossensorial em recem-nascidos de alto risco / Etiological study of the sensorioneural deafness in high risk newborns
The frequency of sensorioneural hearing loss in high-risk newborns is 20-40 in 1000 births. In many cases, the cause is environmental, due to prenatal, perinatal and postnatal factors, or caused by genetic factors. The main objectives of this project were to determine the etiology of the hearing loss in children admitted into Neonatal Intensive Care Unit (NI
Publicado em: 2008
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21. Uso de marcadores microssatélites para avaliação genética de populações de Melipona mandacaia Smith, 1863 (Hymenoptera, Apoidea) no Estado da Bahia / Microssatellites markers applied to genetic evaluation of populations of Melipona mandacaia Smith, 1863 (Hymenoptera, Apoidea) in Bahia State, Brazil
Melipona mandacaia, is an indigenous stingless bee (Meliponini Tribe), an endemic species of the semi-arid of the northeast of Brazil. The original flora of the caatinga has been altered by the human action. This alteration reduces the food resources and the places available for nesting, so this affects the dispersion and the genetic flow of the populations
Publicado em: 2008
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22. COMPOSIÇÃO CORPORAL, PERFIL METABÓLICO E INFLAMATÓRIO NA HETEROZIGOSE PARA UMA MUTAÇÃO NO GENE DO RECEPTOR DO GHRH
Different forms of isolated GH deficiency (IGHD) have an autosomal recessive mode of inheritance. The most common one (type IB) is often caused by bi-allelic mutations in the GHRH receptor (GHRHR) gene (GHRHR). Although heterozygous carriers of GHRHR mutations appear normal, the small size of most of the families and the fact that stature is a complex and po
Publicado em: 2007
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23. Genetic variation in a closed line of the white shrimp Litopenaeus vannamei (Penaeidae)
The culture of the marine shrimp Litopenaeus vannamei has recently boosted the Brazilian shrimp industry. However, it is well known that selection methods based solely on phenotypic characteristics, a reduced number of breeders and the practice of inbreeding may promote a significant raise in the genetic similarity of the captive populations, leading to grea
Genetics and Molecular Biology. Publicado em: 2007
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24. Estudo da expressão dos receptores do peptídeo insulinotrópico dependente de glicose (GIPR) e do hormônio luteinizante (LHCGR) em tumores e hiperplasias do córtex adrenal / Expression Study of Glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) in adrenocortical tumors and hyperplasia
Introduction: The glucose- dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) are G-protein coupled receptors with a wide tissue expression pattern. The aberrant expression of these receptors has been described in cases of ACTH-independent macronodular adrenal hyperplasia (AIMAH) and in some adenomas, resulting in the i
Publicado em: 2007