Allele Segregation
Mostrando 1-12 de 163 artigos, teses e dissertações.
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1. Whole-exome sequencing in familial keratoconus: the challenges of a genetically complex disorder
RESUMO Objetivos: As causas genéticas subjacentes do ceratocone são essencialmente desconhecidas. Aqui, realizamos o sequenciamento de todo exoma de duas famílias brasileiras com ceratocone. Métodos: O sequenciamento total do exoma foi realizado em 6 indivíduos com ceratocone de duas famílias distintas do sul do Brasil. Variantes patogênicas foram i
Arq. Bras. Oftalmol.. Publicado em: 29/08/2019
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2. Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births
Abstract Alzheimer's disease and Down syndrome often exhibit close association and predictively share common genetic risk-factors. Presenilin-1 (PSEN-1) and Apolipoprotein E (APOE) genes are associated with early and late onset of Alzheimer's disease, respectively. Presenilin −1 is involved in faithful chromosomal segregation. A higher frequency of the APO
Genet. Mol. Biol.. Publicado em: 31/07/2017
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3. SH1 leaf rust and bacterial halo blight coffee resistances are genetically independent
ABSTRACT Coffee resistance to Pseudomonas syringae pv. garcae has been associated to pleiotropic effect of SH1 allele, present in coffee plants resistant to certain races of Hemileia vastatrix, the causal agent of leaf rust, or genetic linkage between resistance alleles to both pathogens. To validate this hypothesis, 63 coffee plants in F2 generation were ev
Bragantia. Publicado em: 15/05/2017
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4. Distribution of recombination rates across the chromosome 4 of Arabidopsis thaliana and its association with genomic features / Distribuição de taxas de recombinação ao longo do cromossomo 4 de Arabidopsis thaliana e sua associação com elementos genômicos
Recombination is one of the most important factors in the evolution of genome organization. It provides the links between homologous chromosomes that ensure their proper segregation during the first meiotic division. It is responsible for the creation of novel allele combinations and yields genetic diversity on which evolutionary selection can act. Double-st
Publicado em: 2010
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5. A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing imp
Brazilian Journal of Medical and Biological Research. Publicado em: 2009-02
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6. Analise molecular do loco C4/CYP21 : impacto da variabilidade alelica provocada por recombinações sobre os metodos de avaliação de mutações / Molecular analysis of C4/CYP21 locus : influence of allelic variability caused by recombinations on current methods of mutation detection
Congenital adrenal hyperplasia is caused by deficiency of one of the five enzymes responsible for cortisol synthesis in the steroidogenesis. More than 90% of the cases occur due to deficiency of 21-hidroxilase (21-OH). The haploid human genome bears two copies in tandem of 21-OH coding gene, CYP21A2 and CYP21A1P. Although the two copies are approximately 98%
Publicado em: 2009
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7. Genetic control of orange hilum corona of carioca beans (Phaseolus vulgaris)
The purpose of this research was to elucidate the genetic control of orange corona color in carioca common beans (Phaseolus vulgaris). We made four crosses between carioca group cultivars that differed in respect to the presence or absence of an orange hilum corona color. The F2, F3, F1BC11, F1BC21, F2BC11 and F2BC21 phenotypic segregations were evaluated wi
Genetics and Molecular Biology. Publicado em: 2007
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8. Skin and lung carcinogenesis in mice Selected for acute inflammatory response (AIR). / Carcinogênese de pele e pulmão em linhagens de camundongos selecionados segundo a reatividade inflamatória aguda.
AIRmax mice are resistant and AIRmin susceptible to skin carcinogenesis by repeated DMBA doses. AIRmin mice developed initial contact hypersensitivity reaction (CHS) and late skin and lung tumors. The aryl hydrocarbon receptor (AHR) plays important roles in DMBA metabolism. Upon binding to agonist this transcription factor induces the expression of CYP P450
Publicado em: 2007
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9. Polimorfismos dos genes CAPN1, CAST, LEP, TG e DGAT1 como possíveis indicadores da qualidade da carne em bovinos zebuínos e cruzados abatidos em idade jovem / Polymorphisms of the genes CAPN1, CAST, LEP, TG and DGAT1 as possible markers for bovine meet quality traits in zebu and crosses slaughtered in young age
Mais de 200 milhões de bovinos, em sua maioria animais da raça Nelore ou produtos de cruzamento com Nelore, compõem o rebanho do maior exportador de carne in natura do mundo, o Brasil. No entanto, o faturamento por kg de carne exportada poderia ser elevado se a qualidade do produto atendesse a mercados mais exigentes. A maciez da carne, a quantidade de go
Publicado em: 2007
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10. Genética do prognatismo mandibular: avaliação de heredogramas, análise complexa de segregação e análise de ligação com loci candidatos em famílias brasileiras averiguadas a partir de probandos afetados
There is a familial tendency to mandibular prognathism. Various genetic models have been described. It is assumed to be a polygenic trait in the vast majority of cases, with a threshold for expression. The purpose of the current study was to examine specific genetic models of the familial transmission of MP in Brazilian families and to search for evidences o
Publicado em: 2006
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11. Esterase-D and chromosome patterns in Central Amazon piranha (Serrasalmus rhombeus Linnaeus, 1766) from Lake Catalão
This study presents additional genetic data on piranha (Serrasalmus rhombeus Linnaeus, 1766) complex previously diagnosed due to the presence of distinct cytotypes 2n = 58 and 2n = 60. Three esterase-D enzyme loci (Est-D1, Est-D2 and Est-D3) were examined and complemented with chromosomal data from 66 piranha specimens collected from Lake Catalão. For all s
Genetics and Molecular Biology. Publicado em: 2006
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12. The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph disease) CAG repeats in normal individuals: segregation analysis and allele frequencies
Spinocerebellar ataxia type 1 (SCA1) and Machado-Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG trinucleotide repeat in the SCA1 and MJD genes. These expanded sequences are unstable upon transmission, leading to an intergeneration increase in the number of repeats (dynamic mutation). The transmission
Genetics and Molecular Biology. Publicado em: 2003