ABSTRACT
O objetivo desta pesquisa foi avaliar os SNPs rs471462296, rs456245081 e rs438495570 do gene DGAT1 em bovinos Nelore. Foram analisados 109 bovinos. A extração do DNA genômico foi realizada do sangue dos animais, usando-se o kit Ilustra Blood Genomic Prep Mini Spin® (GE Healthcare, UK). A concentração e o grau de pureza do DNA foram determinados por meio de espectrofotômetro (Nanodrop - Thermo Fisher Scientifc, USA). A genotipagem dos SNPs ocorreu mediante o emprego do ensaio Taqman® (Applied Biosystems, USA). Na análise genômica, não foram encontradas alterações nas frequências alélicas e genotípicas (P≥0,05) para os SNPs testados. Dessa forma, a região 5'UTR analisada apresentou-se monomórfica e a variação de SNPs não foi observada, o que limita seu uso como marcadores moleculares para o gene DGAT1 em Nelore.(AU)
Subject(s)
Animals , Cattle , Cattle/genetics , Phenotype , GenotypeABSTRACT
We investigated the association between an aggrecan gene (ACAN) polymorphism and lumbar disc herniation (LDH). This was a case-control study with quinquennial age and gender groups. The study comprised 119 men and women aged between 20 and 60 from Goiânia (Brazil). Of these, 39 were allocated to the case group (Ca) and 80 to the control group (Ct). We gathered sociodemographic and clinical data, and peripheral blood samples. DNA was isolated for genotyping the ACAN variable number tandem repeat (VNTR) via conventional polymerase chain reaction (PCR). Data were statistically analyzed using the chi-square test, multiple comparison analysis, the Student t-test, and odds ratios, with a level of significance set at 5% (P ≤ 0.05). The groups were homogenous in terms of sociodemographic, anthropometric, and life style variables. The allele score for the ACAN VNTR was significantly lower in volunteers with LDH; the A22 allele was significantly more prevalent in this same group; the Ca group presented greater frequency of short alleles A13-A25, whereas the Ct group presented a higher frequency of long alleles. However, this difference was not statistically significant. In both groups, the most common alleles were A28, A27, and A29, and the A26/A26 genotype was significantly more common in the Ca group. The results showed an association between short alleles and LDH among the investigated adults (Ca), corroborating the hypothesis that aggrecan with shorter repeat lengths can lead to a reduction in the physiological proteoglycan function of intervertebral disc hydration and, consequently, increased individual susceptibility to LDH.
