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1.
Genet Mol Res ; 15(4)2016 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-28002603

RESUMO

The application of assisted reproductive technology in animal production benefits the economy and conservation of biological resources. Single nucleotide polymorphism (SNPs) was used as predictive markers for breeding and reproduction. In the present study, we examined the association between a SNP of the grb10 gene and superovulation traits in cattle. Sequencing results indicated a point mutation and statistical analysis showed a significant association of the mutation with superovulation traits. The high number of embryos collected from the heterozygotes suggested that the mutation in the grb10 gene exerted a significant effect on the number of embryos recovered although the quality was not affected. The grb10 gene may serve as a useful biomarker for donor selection.


Assuntos
Proteína Adaptadora GRB10/genética , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Superovulação/genética , Animais , Bovinos , Técnicas de Cultura Embrionária , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Mutação Puntual , Análise de Sequência de DNA
2.
Early Hum Dev ; 90(10): 545-8, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25103788

RESUMO

BACKGROUND: High birth weight (HBW) is considered a key predictor of the development of chronic diseases, such as Type 2 Diabetes (T2D). Foetal growth depends on many factors, among which placental function is critical. Some genes with expression in the placenta, such as GRB10, are known to be involved in the regulation of insulin receptor pathways and the size of mouse littermates. AIM: To evaluate whether the intronic polymorphism rs12540874 A>G of the GRB10 gene is associated with HBW in term newborns. STUDY DESIGN: A total of 51 healthy term newborns were enrolled in a nested case-control study. The case group was defined by the presence of HBW (n=17) and the control group by newborns with normal birth weight (NBW n=34). Maternal and foetal factors influencing HBW were considered as exclusion criteria. The polymorphism was determined through real-time PCR using TaqMan technology. Categorical variables were evaluated with descriptive statistics, and multivariate logistic regression analysis was used to evaluate the association between polymorphism and HBW. RESULTS: The newborns in the case group had a longer gestation period (39. 7 ± 1.0 and 38.8 ± 1.8 weeks) and higher insulin levels at birth (9.5 ± 4.0 and 5.7 ± 3.4 µU/mL) than the newborns in the control group. The multivariate regression analysis, adjusted for weeks of gestation, showed a significant association between the SNP rs12540874 A>G of the GRB10 gene with HBW (OR 4.9; CI95% 1.10-22.10 p=0.02). CONCLUSIONS: Our results suggest that the SNP rs12540874 A>G, an intronic SNP of the gene GRB10, is associated with HBW.


Assuntos
Peso ao Nascer/genética , Doenças Fetais/genética , Proteína Adaptadora GRB10/genética , Regulação da Expressão Gênica no Desenvolvimento/genética , Hiperinsulinismo/genética , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Humanos , Recém-Nascido , Insulina/metabolismo , Modelos Logísticos , Reação em Cadeia da Polimerase em Tempo Real , Transdução de Sinais/genética
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