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| Registros recuperados: 13 | |
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| Zhang,Y.; Zhang,F.; Chen,D.; Lü,Q.; Tang,L.; Yang,C.; Lei,M.; Tong,N.. |
| Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote. It was noted that in this pedigree, only the proband complained about recurrent episodes of bilateral lower limb weakness over 8 years, while his elder sister, mother and daughter did not... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Gitelman syndrome; SLC12A3 gene; Homozygous mutant; Pedigree. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001100701 |
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| Griot, Ronan; Allal, Francois; Brard‐fudulea, S; Morvezen, R; Haffray, P; Phocas, F; Vandeputte, Marc. |
| In the context of parentage assignment using genomic markers, key issues are genotyping errors and an absence of parent genotypes because of sampling, traceability or genotyping problems. Most likelihood‐based parentage assignment software programs require a priori estimates of genotyping errors and the proportion of missing parents to set up meaningful assignment decision rules. We present here the R package APIS, which can assign offspring to their parents without any prior information other than the offspring and parental genotypes, and a user‐defined, acceptable error rate among assigned offspring. Assignment decision rules use the distributions of average Mendelian transmission probabilities, which enable estimates of the proportion of offspring with... |
| Tipo: Text |
Palavras-chave: Microsatellites; Missing parents; Parentage assignment; Pedigree; SNP. |
| Ano: 2020 |
URL: https://archimer.ifremer.fr/doc/00587/69866/67767.pdf |
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| Pethybridge, Heidi; Weijerman, Mariska; Perrymann, Holly; Audzijonyte, Asta; Porobic, Javier; Mcgregor, Vidette; Girardin, Raphael; Bulman, Cathy; Ortega-cisneros, Kelly; Sinerchia, Matteo; Hutton, Trevor; Lozano-montes, Hector; Mori, Mao; Novaglio, Camilla; Fay, Gavin; Gorton, Rebecca; Fulton, Elizabeth. |
| Calibration of complex, process-based ecosystem models is a timely task with modellers challenged by many parameters, multiple outputs of interest and often a scarcity of empirical data. Incorrect calibration can lead to unrealistic ecological and socio-economic predictions with the modeller’s experience and available knowledge of the modelled system largely determining the success of model calibration. Here we provide an overview of best practices when calibrating an Atlantis marine ecosystem model, a widely adopted framework that includes the parameters and processes comprised in many different ecosystem models. We highlight the importance of understanding the model structure and data sources of the modelled system. We then focus on several model outputs... |
| Tipo: Text |
Palavras-chave: Best practices; Model diagnostics; Food web; Pedigree; Parameter estimation. |
| Ano: 2019 |
URL: https://archimer.ifremer.fr/doc/00516/62723/67160.pdf |
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| Ghafouri-Kesbi,Farhad. |
| The aim of this study was to monitor changes in genetic size of a small-closed population of Iranian Zandi sheep, by using pedigree information from animals born between 1991 and 2005. The genetic size was assessed by using measures based on the probability of identity-by-descend of genes (coancestry, f, and effective population size, Ne), as well as measures based on probability of gene origin (effective number of founders, f e, effective number of founder genomes, f g, and effective number of non-founder genomes, f ne). Average coancestry, or the degree of genetic similarity of individuals, increased from 0.81% to 1.44% during the period 1993 to 2005, at the same time that Ne decreased from 263 to 93. The observed trend for f e was irregular throughout... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Pedigree; Effective size; Genetic drift; Genetic diversity; Genetic similarity; Sheep. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400011 |
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| Bömcke,Elisabeth; Gengler,Nicolas; Cothran,E. Gus. |
| In Greece, seven native horse breeds have been identified so far. Among these, the Skyros pony is outstanding through having a distinct phenotype. In the present study, the aim was to assess genetic diversity in this breed, by using different types of genetic loci and available genealogical information. Its relationships with the other Greek, as well as foreign, domestic breeds were also investigated. Through microsatellite and pedigree analysis it appeared that the Skyros presented a similar level of genetic diversity to the other European breeds. Nevertheless, comparisons between DNA-based and pedigree-based results revealed that a loss of genetic diversity had probably already occurred before the beginning of breed registration. Tests indicated the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic variation; Genetic markers; Pedigree; Horse. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100013 |
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| Teixeira Neto,Milton Rezende; Cruz,Jurandir Ferreira da; Carneiro,Paulo Luiz Souza; Malhado,Carlos Henrique Mendes; Faria,Helder Henrique Neves. |
| O objetivo deste trabalho foi avaliar a estrutura populacional de ovinos da raça Santa Inês criados no Brasil. Foram utilizados dados de pedigree de 13.216 animais, pertencentes a 53 rebanhos de oito estados brasileiros, nascidos no período de 1976 a 2010. O programa Endog foi utilizado para análise do pedigree e estimação dos parâmetros populacionais. Do total de animais estudados, 80,86% apresentaram pedigree na primeira ascendência, 73,78% na segunda e 67,75% na terceira. O número máximo de gerações conhecidas foi de 19, e a média de gerações equivalentes foi de 4,67. A média do intervalo de gerações foi de 3,22±1,77 anos. O tamanho efetivo da população apresentou média de 172,5 animais. O número de animais fundadores foi 829, mas o número efetivo de... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ancestrais; Endogamia; Fundadores; Pedigree; Variabilidade genética. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2013001200008 |
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| Barbosa,Ana Carla Borges; Malhado,Carlos Henrique Mendes; Carneiro,Paulo Luiz Souza; Muniz,Lorena Mirelle Santos; Ambrosini,Diego Pagung; Carrillo,José Adrián; Martins-Filho,Raimundo. |
| The objective of this study was to evaluate the population genetic structure of Nellore cattle in northeastern Brazil. Pedigree information was collected from 175,231 animals born from 1967 to 2007. Probability of gene origin, inbreeding, average relatedness coefficient (AR), completeness pedigree, effective population size and generation interval were calculated. Generation interval was high due to the long period of time animals were used as reproducers. The bottleneck effect was evidenced as a result of intensive use of limited breeders over the last years. Low values were observed in the effective number of founder animals (434) and ancestors (427) comparing with the number on the base (175,231) and reference populations (130,038). Generally, the... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Effective size; Generation intervals; Inbreeding; Pedigree. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-35982013000900005 |
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| Malhado,Carlos Henrique Mendes; Carneiro,Paulo Luiz Souza; Pereira,Derval Gomes; Martins Filho,Raimundo. |
| O objetivo deste trabalho foi avaliar a estrutura populacional e o progresso genético e fenotípico de características de desenvolvimento ponderal, em bovinos da raça Nelore, no Estado da Bahia. Foram utilizadas informações de pedigree de animais nascidos no período de 1955 a 2007, e dados dos pesos ajustados aos 205, 365 e 550 dias de idade, de bovinos nascidos de 1970 a 2006. As estimavas dos coeficientes de herdabilidade foram de moderadas a altas, quanto aos pesos ajustados nas três idades. Os rebanhos apresentaram ganho genético positivo nas três características, porém, de baixa magnitude. A mudança fenotípica no decorrer dos anos foi quase exclusivamente relacionada à melhoria ambiental. O tamanho efetivo da população de Nelore do Estado da Bahia tem... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Endogamia; Intervalo de geração; Ganho genético; Pedigree; Seleção; Tamanho efetivo. |
| Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-204X2008000900010 |
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| Harney, Ewan; Lachambre, Sebastien; Roussel, Sabine; Huchette, Sylvain; Enez, Florian; Morvezen, Romain; Haffray, Pierrick; Boudry, Pierre. |
| Selective breeding strategies require pedigree information over generations, but many species produced in aquaculture are too small to be physically tagged at early stages. Consequently, maintaining a sufficient number of separate families is often needed but costly and logistically difficult. Alternatively, parentage assignment can be obtained using DNA markers. We developed a panel of single nucleotide polymorphism (SNP) markers for the European abalone Haliotis tuberculata using an existing transcriptomic resource. An initial set of 2,176,887 SNPs was filtered to select 500 for high throughput genotyping. Of these, 298 SNPs were amplified in at least 90% of our H. tuberculata samples, consisting of a mixed family cohort (945 offspring) generated by... |
| Tipo: Text |
Palavras-chave: Abalone; Parentage assignment; Pedigree; Selective breeding; Transcriptome; SNP. |
| Ano: 2018 |
URL: https://archimer.ifremer.fr/doc/00429/54061/55396.pdf |
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| Registros recuperados: 13 | |
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