Linkage disequilibrium levels in Bos indicus and Bos taurus cattle using medium and high density SNP chip data and different minor allele frequency distributions

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Allele frequency of hereditary equine regional dermal asthenia in American Quarter horses in Brazil determined by quantitative real-time PCR with high resolution melting analysis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Genetic population data of 12 STR loci of the PowerPlex (R) Y system in the state of São Paulo population (Southeast of Brazil)

Allele frequency distributions and population data for 12 Y-chromosomal short tandem repeats (STRs) included in the PowerPlex (R) Y Systems (Promega) were obtained for a sample of 200 healthy unrelated males living in S (a) over tildeo Paulo State (Southeast of Brazil). A total of 192 haplotypes were identified, of which 184 were unique and 8 were found in 2 individuals. The average gene diversity of the 12 Y-STR was 0.6746 and the haplotype diversity was 0.9996. Pairwise analysis confirmed that our population is more similar with the Italy, North Portugal and Spain, being more distant of the Japan. (c) 2007 Elsevier B.V. All rights reserved.

Genetic population data from Araraquara region (SP State, Brazil) using PowerPlex® 16 Systems

In the present study, allele frequency distributions for the 15 STR loci included in the PowerPlex® 16 Systems (Promega) were obtained from a sample of 55 unrelated individuals living in Araraquara region (SP, Brazil). The frequency of each allele for each locus tested, the exact test and the forensic and paternity parameters were calculated using POWERSTATS ver. 1.2 (Promega) and GENEPOP ver. 3.2 software. All loci are in the Hardy-Weinberg equilibrium and they reached a combined power discrimination of 0.999999999999999973 and combined power exclusion of 0.99999987, showing to be a powerful tool for paternity testing and individual identification in the population analyzed. © 2005 Elsevier B.V. All rights reserved.

Abnormalities in apolipoprotein and lipid levels in an HIV-infected Brazilian population under different treatment profiles: the relevance of apolipoprotein E genotypes and immunological status

HIV infection is associated with disturbances in lipid metabolism due to a host's response mechanism and the current antiretroviral therapy. The pathological appearance and progression of atherosclerosis is dependent on the presence of injurious agents in the vascular endothelium and variations in different subsets of candidate genes. Therefore, the Hha I polymorphism in the apolipoprotein E gene was evaluated in addition to triglycerides, total cholesterol, very low-density lipoprotein (VLDL), LDL, high-density lipoprotein (HDL), and apolipoprotein (apo) Al, B and E levels in 86 Brazilian HIV-infected patients and 29 healthy controls. The allele frequency for apoE in the HIV-infected group and controls was in agreement with data on the Brazilian population. Dyslipidemia was observed in the HIV group and verified by increased levels of triglycerides, VLDL and apoE, and decreased levels of HDL and apoAl. The greatest abnormalities in these biochemical variables were shown in the HIV-infected individuals whose immune function was more compromised. The effect of the genetic variation at the APOE gene on biochemical variables was more pronounced in the HIV-infected individuals who carried the apoE2/3 genotype. The highly active antiretroviral therapy (HAART)-receiving group presented increased levels of total cholesterol and apoE. Dyslipidemia was a predictable consequence of HIV infection and the protease inhibitors intensified the increase in apoE values.

X-chromosome genetic variation in São Paulo State (Brazil) population

As data on X-chromosomal short tandem repeats (X-STRs) for the Brazilian population are scarse, the aim of this study was to determine the allele frequencies of five X-STRs (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) in the São Paulo State, Brazil. No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The forensic efficiency parameters demonstrated that DXS101 was the most informative marker. Population comparisons revealed that the X-STR profile sampled in the state of São Paulo was more similar to European and African populations than Asiatic populations reported in this work.

Delimiting genetic units in Neotropical toads under incomplete lineage sorting and hybridization

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis

Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this mutation as a candidate risk factor for venous thrombosis.Design and Methods. The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagnosed deep venous thrombosis and in 101 healthy controls matched for age, sex and race. PCR amplification of a DNA fragment containing exon 8 of the CBS gene was employed to determine the genotypes, Additionally, Bsrl restriction enzyme digestion of the PCR products was performed in all samples from carriers of the insertion, to test for concurrent presence of a second mutation (T833C) in the CBS gene.Results. The insertion was found in 21 out of 101 patients (20.8%; allele frequency 0.109) and in 20 out of 101 controls (19.8%; allele frequency 0.114), yielding a relative risk for venous thrombosis related to the 844ins68 CBS mutation close to 1.0. In addition, the T833C GBS mutation was detected in all alleles carrying the 844ins68 CBS insertion, confirming the co-inheritance of the two mutations.Interpretation and Conclusions. Our findings do not support the hypothesis that the 844ins68 mutation in the CBS gene is a genetic risk factor for venous thrombosis. (C)1998, Ferrata Storti Foundation.

Comparison of oxidative stress and the frequency of polymorphisms in the HFE gene between hemoglobin S trait blood donors and sickle cell disease patients

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis

Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this mutation as a candidate risk factor for venous thrombosis. Design and Methods. The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagnosed deep venous thrombosis and in 101 healthy controls matched for age, sex and race. PCR amplification of a DNA fragment containing exon 8 of the CBS gene was employed to determine the genotypes. Additionally, Bsrl restriction enzyme digestion of the PCR products was performed in all samples from carriers of the insertion, to test for concurrent presence of a second mutation (T833C) in the CBS gene. Results. The insertion was found in 21 out of 101 patients (20.8%; allele frequency 0.109) and in 20 out of 101 controls (19.8%; allele frequency 0.114), yielding a relative risk for venous thrombosis related to the 844ins68 CBS mutation close to 1.0. In addition, the T833C CBS mutation was detected in all alleles carrying the 844ins68 CBS insertion, confirming the co- inheritance of the two mutations. Interpretation and Conclusions. Our findings do not support the hypothesis that the 844ins68 mutation in the CBS gene is a genetic risk factor for venous thrombosis.

RAPD analysis in the Neotropical fish Brycon lundii: Genetic diversity and its implications for the conservation of the species

Random amplified polymorphic DNA (RAPD) technique was used to examine the genetic variability on an endangered Neotropical fish species, Brycon lundii, collected on two regions with distinct environmental conditions in the São Francisco River (Brazil), downstream from a hydroelectric station. Using decamer oligonucleotides as single primers in Polymerase Chain Reaction (PCR), genetic similarity index, mean allele frequency and mean heterozigosity were estimated, revealing variations between samples from the two regions. Moreover, a fragment of about 1200 base pairs was found in 100% of the examined animals collected at the region closer to the hydroelectric dam, while its frequency was much lower (27.3%) within the sample from the second collecting site, 30 km downstream from the dam, indicating a possible correlation between genetic variation and geographical area. A dendogram representing the relationships among genotypes was obtained, demonstrating at least two major clusters of animals. Based on the data, a model of population structuring in Brycon lundii is suggested. The described approach holds great promise for further analyses and gives support to biodiversity maintenance and recovery efforts of B. lundii.

Study of whole genome linkage disequilibrium in Nellore cattle

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Associação entre polimorfismos de base única e precocidade sexual em fêmeas da raça Nelore

Pós-graduação em Genética e Melhoramento Animal - FCAV

Efeito da utilização de diferentes matrizes genômicas e parentesco na avaliação genética de bovinos de corte

Pós-graduação em Genética e Melhoramento Animal - FCAV

Water buffalo genome characterization by the Illumina BovineHD BeadChip

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)