Random regression models for the evaluation of the growth of goats of the Anglonubian breed / Modelos de regressão aleatória para avaliação do crescimento de caprinos da raça Anglonubiana

A total of 6593 weight records collected from 796 male and female Anglo-Nubian goats aged up to 130 days, offspring from 29 sires and 225 dams, were used to compare models and estimate genetic parameters throughout the growth curve by applying random regression models. Direct and maternal additive genetic effects and direct and maternal permanent environmental effects were included as random in the models. The contemporary groups were included as fixed effects and goat age at kidding was included as a covariable (linear and quadratic). The choice of the best model was based on the AIC, BIC and AICc criteria. Variance estimates of the four random effects increased as the animals aged. Direct heritability (h2) rose from 0.13 to 0.40 with age, whereas maternal heritability showed a low value. Genetic correlations of weight between closer ages were high. The most suitable random regression model to compare the fitting of random effects was that which employed the Legendre polynomials of quadratic order with homogeneous variance (3333-1).(AU)

Utilizaram-se 6593 pesos de 796 caprinos da raça Anglonubiana, coletados em machos e fêmeas com idade até 130 dias, descendentes de 29 reprodutores e 225 matrizes, com o objetivo de se compararem modelos e de se estimarem parâmetros genéticos ao longo da curva de crescimento com aplicação de modelos de regressão aleatória. Nos modelos, incluíram-se os efeitos genéticos aditivos diretos e maternos e os de ambiente permanente diretos e maternos como aleatórios; os grupos de contemporâneos foram incluídos como efeitos fixos, e a idade da cabra ao parto como covariável (linear e quadrática). A escolha do melhor modelo foi realizada pela avaliação dos critérios AIC, BIC e AICc. As estimativas de variâncias dos quatro efeitos aleatórios cresceram de acordo com o aumento da idade. A herdabilidade direta (h2) aumentou de 0,13 a 0,40 com a idade, e a materna apresentou baixo valor. As correlações genéticas do peso entre idades mais próximas foram altas. O modelo de regressão aleatório mais adequado ao se comparar o ajuste dos efeitos aleatórios foi o que empregou polinômios de Legendre de ordem quadrática com variância homogênea (3333-1).(AU)

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil.

Gaucher's disease (GD) is caused by a ß-glucocerebrosidase deficiency, leading to the accumulation of glucocerebroside in the reticuloendothelial system. The prevalence of GD in Tabuleiro do Norte (TN) (1:4000) is the highest in Brazil. The purpose of this study was to present evidence of consanguinity and founder effect for the G377S mutation (c.1246G>A) among GD patients in TN based on enzyme, molecular and genealogical studies. Between March 2009 and December 2010, 131 subjects at risk for GD (GC in dried blood ≤2.19 nmol/h/ml) and 5 confirmed GD patients from the same community were submitted for molecular analysis to characterize the genetic profile of the population. Based on the enzymatic and molecular analysis, the subjects were classified into three categories: affected (n = 5), carrier (n = 20) and non-carrier (n = 111). All carriers were (G377S/wt). Affected subjects were homozygous (G377S/G377S). The identification of a single mutation in carriers and homozygotes from different generations, the history of the community and the genealogy study suggest that the high prevalence of GD in this population may be due to a combination of consanguinity and founder effect for the G377S mutation.

Investigation of whole blood of SJL/J mice using neutron activation analysis

Eleven whole blood samples were analyzed in the IEA-R1 nuclear reactor at IPEN (São Paulo, Brazil). These data contribute for applications in veterinary medicine related to biochemistry analyses using whole blood. Moreover, the correlation with human blood estimation allows to checking the similarities for studying muscular dystrophy using this model animal.