982 resultados para Allele frequency


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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.

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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.

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Studies have suggested that hepatitis C virus (HCV) may infect not only hepatocytes but may also be carried by platelets. Platelets express more than 20 polymorphic antigenic determinants on their surface, which are called human platelet antigens (HPA), To determine the allele frequency of the HPA-1 to -5 in patients infected with HCV, blood samples were collected from 257 blood donors for the control group and from 191 patients infected with HCV. DNA was isolated and amplified for genes HPA-1 to -4 using PCR Sequence Specific Primers (PCR-SSP) and HPA-5 using PCR-Restriction Fragment Length Polymorphism (PCR-RFLP). The allelic and genotypic frequency of HPA-5a in patients infected with HCV was found to be significantly lower(P < 0.05) than in the controls, and HPA-5b from patients infected with HCV was significantly higher (P < 0.05) than in controls. The increase in HPA5b allelic frequency in HCV infection may indicate a possible association between HCV infection and HPAs. J. Med. Virol. 81:757-759, 2009. (C) 2009 Wiley-Liss, Inc.

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

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

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O sistema de cruzamento da espécie arbórea de dossel da Mata Atlântica brasileira, Cryptocarya moschata, foi estudado a partir de material proveniente do Parque Estadual Carlos Botelho, São Miguel Arcanjo, São Paulo, Brasil. As taxas de cruzamento foram determinadas através de marcadores alozímicos obtidos de plântulas germinadas de coortes de sementes coletadas de 35 árvores. O valor médio da taxa de cruzamento de equilíbrio (estimador indireto) foi t^eq = 0.51. As estimativas das taxas de cruzamento uniloco e multilocos (estimadores diretos) foram t^s = 0.725± 0,041 e t^m = 0,884 ± 0,034, respectivamente, indicando um sistema de cruzamento predominantemente alogâmico. As taxas de cruzamento de árvores individuais variaram de 27 a 100 ( x¯ = 87,8) porcento, a partir de t^m calculado com as freqüências gênicas de pólen mantidas constantes ao nível populacional. A partir do modelo de par de irmãos (modelo de cruzamento correlacionado) de Ritland, a correlação entre duas progênies irmãs oriundas de autofecundação (r^s) e a correlação entre duas progênies irmãs oriundas de paternidade por exocruzamento (r^p) foram 35,7% e 99,0%, respectivamente. Esses resultados corroboram o fato de haver variação nas taxas de autocruzamento entre as diferentes árvores, podendo também indicar que quando há endogamia, a maior parte das sementes nas árvores são provavelmente irmãs-germanas.

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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.

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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.

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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.

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Objective: To evaluate if identified loci associated with normal age of menopause variation and early menopause can account for the poor response to controlled ovarian stimulation. Methods: A total of 71 patients, with age ≤ 35 years old, undergoing intracytoplasmic sperm injection were tested for three of the four newly identified genetic variants associated with normal variation in menopausal age and early menopause. Patients were divided into two groups: poor responder group (PR group, n=21) and normoresponder group (NR group, n=50). The influence of risk allele frequency on the response to controlled ovarian stimulation (COS) was evaluated. Logistic regression models were used. Results: There was no significant difference in the incidence of the genetic variants between NR and PR group. The risk allele for chromosome 19 variant (rs4806660) demonstrated a protective effect. The presence of a risk allele, either in homozygosis or in heterozygosis, was associated with an increased response to COS, resulting in an elevated number of follicles (Coef: 2.54, P= 0.041) and retrieved oocytes (Coef: 1.41, P= 0.041). Conclusions: Genetic variants rs244715, rs9379896 and rs4806660 are not risk factors for poor ovarian response. Instead, rs4806660 is associated with higher number of follicles and retrieved oocytes. It could be hypothesized that rs4806660 is associated with an increased response to gonadotrophin stimulus. © Todos os direitos reservados a SBRA - Sociedade Brasileira de Reprodução Assistida.

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Background: Neuromyelitis optica (NMO) is considered relatively more common in non-Whites, whereas multiple sclerosis (MS) presents a high prevalence rate, particularly in Whites from Western countries populations. However, no study has used ancestry informative markers (AIMs) to estimate the genetic ancestry contribution to NMO patients. Methods: Twelve AIMs were selected based on the large allele frequency differences among European, African, and Amerindian populations, in order to investigate the genetic contribution of each ancestral group in 236 patients with MS and NMO, diagnosed using the McDonald and Wingerchuck criteria, respectively. All 128 MS patients were recruited at the Faculty of Medicine of Ribeirão Preto (MS-RP), Southeastern Brazil, as well as 108 healthy bone marrow donors considered as healthy controls. A total of 108 NMO patients were recruited from five Neurology centers from different Brazilian regions, including Ribeirão Preto (NMO-RP). Principal Findings: European ancestry contribution was higher in MS-RP than in NMO-RP (78.5% vs. 68.7%) patients. In contrast, African ancestry estimates were higher in NMO-RP than in MS-RP (20.5% vs. 12.5%) patients. Moreover, principal component analyses showed that groups of NMO patients from different Brazilian regions were clustered close to the European ancestral population. Conclusions: Our findings demonstrate that European genetic contribution predominates in NMO and MS patients from Brazil. © 2013 Brum et al.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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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.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Pós-graduação em Pesquisa e Desenvolvimento (Biotecnologia Médica) - FMB