Navegando por Palavras-chave "heritability"
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- ItemSomente MetadadadosGenetic Contribution for Non-Syndromic Cleft Lip With or Without Cleft Palate (NS CL/P) in Different Regions of Brazil and Implications for Association Studies(Wiley-Blackwell, 2011-07-01) Brito, Luciano A.; Cruz, Lucas A.; Rocha, Katia M.; Barbara, Ligia K.; Silva, Camila B. F.; Bueno, Daniela F.; Aguena, Meire; Bertola, Debora R.; Franco, Diogo; Costa, Andre M.; Alonso, Nivaldo; Otto, Paulo A.; Passos-Bueno, Maria Rita; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP); Universidade Federal do Rio de Janeiro (UFRJ); Univ Hlth Sci AlagoasNon-syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarem, Fortaleza, Barbalha, Maceio, and Rio de Janeiro). We also evaluated the role of consanguinity and ethnic background. the proportion of familial cases varied significantly across locations, with the highest values found in Santarem (44%) and the lowest in Maceio (23%). Heritability estimates showed a higher genetic contribution to NS CL/P in Barbalha (85%), followed by Santarem (71%), Rio de Janeiro (70%), Fortaleza (64%), and Maceio (45%). Ancestry was not correlated with the occurrence of NS CL/P or with the variability in heritability. Only in Rio de Janeiro was the coefficient of inbreeding significantly larger in NS CL/P families than in the local population. Recurrence risk for the total sample was approximately 1.5-1.6%, varying according to the location studied (0.6-0.7% in Maceio to 2.2-2.8% in Barbalha). Our findings show that the degree of genetic contribution to NS CL/P varies according to the geographic region studied, and this difference cannot be attributed to consanguinity or ancestry. These findings suggest that Barbalha is a promising region for genetic studies. the data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies. (C) 2011 Wiley-Liss, Inc.
- ItemAcesso aberto (Open Access)Indicadores de desempenho em rebanho da raça Holandesa: curvas de crescimento e altura, características reprodutivas, produtivas e parâmetros genéticos(Universidade Federal de Minas Gerais, Escola de Veterinária, 2004-02-01) Val, J.e. [UNIFESP]; Freitas, M.a.r. [UNIFESP]; Oliveira, H.n.; Cardoso, V.l.; Machado, P.f.; Paneto, J.c.c. [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual Paulista (UNESP); Instituto de Zootecnia; Universidade de São Paulo (USP)Data on weight, height, productive and reproductive performance of 1,272 Holstein heifers, born from 1990 to 1998, were used to evaluate the growth and height patterns of these females from birth to first calving, and the following traits: weight at first calving (PP), age at first calving (IP), milk production in the first lactation (PL) and first calving interval (IEP), and to estimate genetic parameters of these traits. The von Bertalanffy fitted models were: Yi=802.10 (1-0.630EXP (-0.0022t)) for weight, and Yi=1.40 (1-0.208EXP (-0.0038t)) for height. The average performance of heifers were: height 140cm, weight 602kg and 27 month of age at first calving. The total milk yield was 8,026kg and first IEP was 420 days. The (co)variance components estimates were obtained by a derivative-free algorithm with the DFREML. The estimates of heritabilities were 0.31, 0.35, 0.34, respectively for PP, IP and PL, and 0.10 for IEP. The genetic correlations estimates between PP and PL, PL and IP and IEP and PL were low. The correlation between IEP and PP was 0.49 and between IEP and IP was, -0.69, sugesting an antagonism between the two last traits.