Genetic profile characterization of 10 X-STRs in four populations of the southeastern region of Brazil

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

Genetic data of 15 autosomal STR loci: an analysis of the Araraquara population colonization (São Paulo, Brazil)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Association between IGF2 and CYP21 gene polymorphisms and characteristics of economic interest in Nellore cattle

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

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.

Population genetic data of five X-chromosomal loci in Bauru (São Paulo, Brazil)

Genetic population data for five X-STR (DXS6854, DXS7424, DXS101, DXS6808 and DXS7132) were obtained from Bauru population (São Paulo, Brazil). No deviations from the Hardy-Weinberg equilibrium were observed, with the exception of DXS101. The combined powers of discrimination in males and females were 0.99897253 and 0.99999120, respectively. These high values show the potential of this system in human identification and paternity testing. © 2008 Elsevier B.V. All rights reserved.

Genetic data of 10 X-chromosomal loci in Vitória population (Espírito Santo State, Brazil)

Genetic population data for 10 X-STR (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789) were obtained from Vitória population (Espírito Santo State, Brazil). No deviations from the Hardy-Weinberg equilibrium and linkage disequilibrium were observed. The combined powers of discrimination in males and females were 0.9999995 and 0.99999999996, respectively. These high values show the potential of this system in human identification in Vitória population, Brazil. © 2009 Elsevier B.V. All rights reserved.

Polimorfismo nos genes metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciforme

Sickle cell disease is an inflammatory condition with a pathophysiology that involves vaso-occlusive episodes. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes are risk factors for vascular disease. Due to the importance of identifying risk factors for vaso-occlusive events in sickle cell patients, we investigated the frequencies of the C677T and 844ins68 mutations of the MTHFR and CBS genes, respectively. Three hundred patients with Hb SS, HB SC and HbS/Beta thalassemia, from Brasília, Goiânia, Rio de Janeiro, São Jose do Rio Preto and São Paulo were evaluated. Samples of 5 mL of venous blood were collected in EDTA after informed consent was received from patients. Classical diagnostic methods were used to confirm the hemoglobin phenotypes. The hemoglobin genotypes and polymorphisms studied were evaluated by Restriction Fragment Length Polymorphism and Allele Specific amplification. The results showed that 93 patients (31.00%) were heterozygous and 13 (4.33%) homozygous for the C677T mutation and 90 were heterozygotes (30.00%) and 8 homozygous (2.66%) for the 844ins68 mutation, both with significant differences for genotype frequency between the localities. The allelic frequencies are in Hardy-Weinberg equilibrium for both polymorphisms. The frequency of mutations was significant and the presence of related vaso-occlusive events was more common in patients with Hb SS (p = 0007). The 844ins68 mutation was approximately three times more frequent in patients with vaso-occlusive complications (p = 0011). The C677T mutation did not prove to be associated with risk of vaso-occlusive events (p = 0.193). A C677T-844ins68 interaction occurred in 12.08% of the patients, doubling the risk of vaso-occlusive manifestations. The frequencies of the polymorphisms are consistent with those expected in the Brazilian population. The presence of the 844ins68 mutation of the CBS gene proved to be a potential risk factor for vaso-occlusive events in sickle cell patients.

Development of microsatellite markers for the Neotropical endemic Brazilian Guanabara frog, Euparkerella brasiliensis, through 454 shotgun pyrosequencing

The new-generation 454 GS-FLX Titanium pyrosequencing was used to isolate microsatellite markers for the Brazilian Guanabara frog, Euparkerella brasiliensis, an Atlantic forest endemic species. Three multiplex polymerase chain reaction sets were optimized for genotyping of 11 polymorphic (di- and tetranucleotide) microsatellite markers. Genetic diversity was assessed in 21 individuals from a population (Reserva Ecológica de Guapiaçu, REGUA) locatedin the central region of the Rio de Janeiro State, in Brazil. The mean number of alleles per locus ranged from 3 to 12. Observed and expected heterozygosities ranged from 0.095 to 0.905 and from 0.094 to 0.904, respectively. After using the Bonferroni correction for multiple tests, there was no evidence of linkage disequilibrium between pairs of loci but deviations for Hardy-Weinberg equilibrium were found in 4 loci. We found no evidence for allele dropouts or stuttering, but we detected the presence of null alleles at loci Eb10 and Eb36. These markers will be useful for analyses of fine-scale population structure and determination of relative effects of habitat loss and fragmentation on population genetic variability within species. © FUNPEC-RP.

Population genetic evidence that basidiospores play an important role in the disease cycle of rice-infecting populations of Rhizoctonia solani AG-1 IA in Iran

The fungus Rhizoctonia solani AG-1 IA causes sheath blight, one of the most important rice diseases worldwide. The first objective of this study was to analyse the genetic structure of R. solani AG-1 IA populations from three locations in the Iranian Caspian Sea rice agroecosystem. Three population samples of R. solani AG-1 IA isolates were obtained in 2006 from infected rice fields separated by 126-263km. Each field was sampled twice during the season: at the early booting stage and 45days later at the early mature grain stage. The genetic structure of these three populations was analysed using nine microsatellite loci. While the population genetic structure from Tonekabon and Amol indicated high gene flow, they were both differentiated from Rasht. The high gene flow between Tonekabon and Amol was probably due mainly to human-mediated movement of infested seeds. The second objective was to determine the importance of recombination. All three populations exhibited a mixed reproductive mode, including both sexual and asexual reproduction. No inbreeding was detected, suggesting that the pathogen is random mating. The third objective was to determine if genetic structure within a field changes over the course of a growing season. A decrease in the proportion of admixed genotypes from the early to the late season was detected. There was also a significant (P=0·002) increase in the proportion of loci under Hardy-Weinberg equilibrium. These two lines of evidence support the hypothesis that basidiospores can be a source of secondary inoculum. © 2012 BSPP.

No evidence for association of the CD40, CD40L and BLYS polymorphisms, B-cell co-stimulatory molecules, with Brazilian endemic Plasmodium vivax malaria

Background: Plasmodium vivax is the most prevalent malaria species in Brazil. The parasite-host coevolutionary process can be viewed as an 'arms race', in which adaptive genetic changes in one are eventually matched by alterations in the other. Methods: Following the candidate gene approach we analyzed the CD40, CD40L and BLYS genes that participate in B-cell co-stimulation, for associations with P. vivax malaria. The study sample included 97 patients and 103 controls. We extracted DNA using the extraction and purification commercial kit and identified the following SNPs: 21C.T in the CD40 gene, 2726T.C in the CD40L gene and the 2871C.T in the BLyS gene using PCR-RFLP. We analyzed the genotype and allele frequencies by direct counting. We also compared the observed with the expected genotype frequencies using the Hardy-Weinberg equilibrium. Results: The allele and genotype frequencies for these SNPs did not differ statistically between patient and control groups. Gene-gene interactions were not observed between the CD40 and BLYS and between the CD40L and BLYS genes. Overall, the genes were in Hardy-Weinberg equilibrium. Significant differences were not observed among the frequencies of antibody responses against P. vivax sporozoite and erythrocytic antigens and the CD40 and BLYS genotypes. Conclusions: The results of this study show that, although the investigated CD40, CD40L and BLYS alleles differ functionally, this variation does not alter the functionality of the molecules in a way that would interfere in susceptibility to the disease. The variants of these genes may influence the clinical course rather than simply increase or decrease susceptibility. © Royal Society of Tropical Medicine and Hygiene 2013. All rights reserved.

Association of the Leptin Gene with Carcass Characteristics in Nellore Cattle

Advances in DNA technology have created biotechnological tools that can be used in animal selection and new strategies for increasing herd productivity and quality. The objective of the present work was to associate the genotypes of leptin gene exon 2 polymorphisms with productive traits in Nellore cattle. Blood was collected from Nellore males and PCR-RFLP reactions were performed with the restriction enzymes ClaI and Kpn2I. The gene frequencies resulting from digestion by ClaI were 0.60 and 0.40 for allele A and T, respectively; the genotypic frequencies were AA = 0.20 and AT = 0.80. The gene frequencies from digestion by Kpn2I were 0.81 for allele C and 0.194 for allele T; the genotypic frequencies were CC = 0.62 and CT = 0.38. The populations in both cases were not in Hardy-Weinberg equilibrium (p > 0.05), and the TT genotype was not found. Significant associations were noted between leptin gene exon 2 polymorphisms and five productive traits in Nellore cattle: carcass fat distribution, the intensity of red muscle coloration, pH, marbling, and post-slaughter fat thickness. © 2013 Copyright Taylor and Francis Group, LLC.

Isolation and characterization of microsatellite loci for the mud-dauber wasp Trypoxylon (Trypargilum) albitarse (Hymenoptera: Crabronidae)

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Isolation and characterization of SNPs within HSC70 gene in the freshwater prawn Macrobrachium amazonicum

We report the discovery of 13 synonymous single nucleotide polymorphisms (SNPs) within a fragment of HSC70 gene in Macrobrachium amazonicum. Polymorphisms were assessed using the reference sequence of the HSC70 gene in Macrobrachium rosenbergii to the primers design. The minor allele frequency ranged from 0.011 to 0.213. None of the SNPs deviated significantly from Hardy-Weinberg equilibrium. These SNPs will be useful to access the genetic variation of populations and to the study of their relations with characteristics of interest for aquaculture. Both cases, favoring the conservation of the natural stocks of Amazon river prawn. © 2013 Springer Science+Business Media Dordrecht.

Papel de polimorfismos genéticos nos genes IL10, TNF e LTA na hanseníase

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Polimorfismo nos genes Metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciforme

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)