Heterogeneous ethnic distribution of the factor V leiden mutation

Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.

Increased risk of venous thrombosis by AB alleles of the ABO blood group and Factor V Leiden in a Brazilian population

Most cases of a predisposition to venous thrombosis are caused by resistance to activated protein C, associated in 95% of cases with the Factor V Leiden allele (FVL or R506Q). Several recent studies report a further increased risk of thrombosis by an association between the AB alleles of the ABO blood group and Factor V Leiden. The present study investigated this association with deep vein thrombosis (DVT) in individuals treated at the Hemocentro de Pernambuco in northeastern Brazil. A case-control comparison showed a significant risk of thrombosis in the presence of Factor V Leiden (OR = 10.1), which was approximately doubled when the AB alleles of the ABO blood group were present as well (OR = 22.3). These results confirm that the increased risk of deep vein thrombosis in the combined presence of AB alleles and Factor V Leiden is also applicable to the Brazilian population suggesting that ABO blood group typing should be routinely added to FVL in studies involving thrombosis.

Discriminação alélica do fator V da coagulação por PCR em tempo real: diagnóstico simples e preciso

Dentre as doenças cardiovasculares, a trombose venosa (TV) destaca-se pela associação entre fatores de riscos adquiridos e fatores genéticos. A resistência hereditária à proteína C ativada tem sido identificada como a principal causa dos casos de trombose venosa, sendo frequentemente associada à mutação fator V Leiden (G1694A). Em indivíduos homozigotos, o risco de trombose venosa é 50 a 100 vezes maior que em pacientes homozigotos normais, enquanto em pacientes heterozigotos o risco é de 5 a 10 vezes. Baseado na necessidade de avaliação e acompanhamento de pacientes com casos de trombose venosa e prevenção de seus respectivos familiares, foi desenvolvido um método simples de discriminação alélica do fator V da coagulação utilizando PCR em tempo real. Foram selecionados 67 pacientes com histórico de TV e 51 indivíduos sem histórico de TV. Primeiramente, a discriminação alélica do fator V foi realizada através de PCR convencional seguida de digestão enzimática (Mnl). Posteriormente, o diagnóstico foi realizado por PCR em tempo real. Ambos os métodos foram baseados no polimorfismo G1691A, sendo no segundo utilizado fluoróforos VIC e FAM para marcar os nucleotídeos G e A, respectivamente. A técnica de PCR-RFLP foi utilizada para diagnosticar 95 indivíduos homozigotos normais, 21 heterozigotos e 2 homozigotos FVL. Utilizando PCR em tempo real foram obtidos os mesmos resultados. A máxima similaridade entre os resultados obtidos por PCR em tempo real e PCR-RFLP indicou precisão significativa do novo método de discriminação e visualização alélica do fator V.

Genetic relationships among native americans based on beta-globin gene cluster haplotype frequencies

The distribution of b-globin gene haplotypes was studied in 209 Amerindians from eight tribes of the Brazilian Amazon: Asurini from Xingú, Awá-Guajá, Parakanã, Urubú-Kaapór, Zoé, Kayapó (Xikrin from the Bacajá village), Katuena, and Tiriyó. Nine different haplotypes were found, two of which (n. 11 and 13) had not been previously identified in Brazilian indigenous populations. Haplotype 2 (+ - - - -) was the most common in all groups studied, with frequencies varying from 70% to 100%, followed by haplotype 6 (- + + - +), with frequencies between 7% and 18%. The frequency distribution of the b-globin gene haplotypes in the eighteen Brazilian Amerindian populations studied to date is characterized by a reduced number of haplotypes (average of 3.5) and low levels of heterozygosity and intrapopulational differentiation, with a single clearly predominant haplotype in most tribes (haplotype 2). The Parakanã, Urubú-Kaapór, Tiriyó and Xavante tribes constitute exceptions, presenting at least four haplotypes with relatively high frequencies. The closest genetic relationships were observed between the Brazilian and the Colombian Amerindians (Wayuu, Kamsa and Inga), and, to a lesser extent, with the Huichol of Mexico. North-American Amerindians are more differentiated and clearly separated from all other tribes, except the Xavante, from Brazil, and the Mapuche, from Argentina. A restricted pool of ancestral haplotypes may explain the low diversity observed among most present-day Brazilian and Colombian Amerindian groups, while interethnic admixture could be the most important factor to explain the high number of haplotypes and high levels of diversity observed in some South-American and most North-American tribes.

Frequency of the Q192R and L55M polymorphisms of the human serum paraoxonase gene (PON1) in ten Amazonian Amerindian tribes

Human serum paraoxonase (PON1) is an esterase associated with high density lipoproteins (HDLs) in the plasma and may confer protection against coronary artery disease. Serum PON1 levels and activity vary widely among individuals and populations of different ethnic groups, such variations appearing to be related to two coding region polymorphisms (L55M and Q192R). Several independent studies have indicated that the polymorphism at codon 192 (the R form) is a significant risk factor for cardiovascular disease in some populations, although this association has not been confirmed in other populations. Given the possible associations of these mutations with heart diseases and the fact that little or nothing is known of their prevalence in Amerindian populations, we investigated the variability of both polymorphisms in ten Amazonian Indian tribes and compared the variation found with that of other Asian populations in which both polymorphisms have been investigated. The results show that the LR haplotype is the most frequent and the MR haplotype is absent in all Amerindians and Asian populations. We also found that South America Amerindians present the highest frequency of the PON1192*R allele (considered a significant risk factor for heart diseases in some populations) of all the Amerindian and Asian populations so far studied.

Evaluation via multivariate techniques of scale factor variability in the rietveld method applied to quantitative phase analysis with X ray powder diffraction

ABSTRACT: The present work uses multivariate statistical analysis as a form of establishing the main sources of error in the Quantitative Phase Analysis (QPA) using the Rietveld method. The quantitative determination of crystalline phases using x ray powder diffraction is a complex measurement process whose results are influenced by several factors. Ternary mixtures of Al2O3, MgO and NiO were prepared under controlled conditions and the diffractions were obtained using the Bragg-Brentano geometric arrangement. It was possible to establish four sources of critical variations: the experimental absorption and the scale factor of NiO, which is the phase with the greatest linear absorption coefficient of the ternary mixture; the instrumental characteristics represented by mechanical errors of the goniometer and sample displacement; the other two phases (Al2O3 and MgO); and the temperature and relative humidity of the air in the laboratory. The error sources excessively impair the QPA with the Rietveld method. Therefore it becomes necessary to control them during the measurement procedure.

Seasonal changes in the gonadossomatic index, allometric condition factor and sex ratio of an auchenipterid catfish from eastern Amazonia

O objetivo deste estudo foi avaliar alterações sazonais no índice gonadossomático (IGS%), fator de condição (K) e proporção sexual, a fim de determinar o período de atividade reprodutiva do bagre Auchenipterichthys longimanus (Siluriformes: Auchenipteridae), a partir da análise de exemplares coletados em igarapés da Floresta Nacional de Caxiuanã, estado do Pará, Brasil. Através de coletas bimestrais entre julho de 2008 e julho de 2009, foram capturados 589 exemplares de A. longimanus, sendo 251 machos e 338 fêmeas. Dentre os machos, 171 exemplares foram classificados como adultos e 80 foram jovens, e dentre as fêmeas, 249 eram adultas e 89 jovens. Por meio do estabelecimento de uma equação senoidal, a análise do IGS% evidenciou uma assincronia reprodutiva entre os sexos, pois os machos obtiveram maiores valores de IGS% em janeiro e as fêmeas apresentaram seu pico em março. Para os valores de IGS% de machos, a equação senoide mostrou-se significante somente para os valores brutos (P=0,001), sendo não identificada uma tendência com os valores médios do IGS% (P=0,136). Para as fêmeas, os valores de significância da equação senoide para o IGS% foram obtidos tanto para os dados brutos (P=0,012) quanto para os dados médios (P=0,026). Para o Fator de Condição, a equação senoide demonstrou variação nos valores brutos e médios de machos adultos (P=0,02 e P=0,00, respectivamente) e nos valores brutos de fêmeas (P=0,04), refletindo diferenças nos padrões de investimento energético entre os sexos. Em relação à proporção sexual, foi observada uma maior frequência de capturas de fêmeas reprodutivas em relação aos machos nos meses de Janeiro e Março de 2009, sugerindo um padrão de segregação sexual com fins reprodutivos. Esses parâmetros são fundamentais na avaliação, conservação e manejo dos estoques naturais de peixes, assim como para subsidiar estratégias e procedimentos para a preservação e conservação da ictiofauna.

Low shrinkage composite resins: influence on sealing ability in unfavorable C-factor cavities

The present investigation observed the sealing ability of low shrinkage composite resins in large and deep cavities, placed and photocured in one increment. Large, deep cavities (5.0 mm diameter and 2.5 mm deep) surrounded by enamel were prepared in bovine teeth, which were then divided into five groups. Groups 1, 2, 3 and 4: acid conditioning + Adper Single Bond (3M/ESPE, St Paul, MN, USA) and restoration with Aelite LS Posterior (BISCO Inc. Schaumburg, IL, USA) (G1); Filtek Z-350 (3M/ESPE,St Paul, MN, USA) (G2); Filtek Z-350 Flow (3M/ESPE, St Paul, MN, USA) (G3); Premisa (KERR Corporation, Orange, CA, USA) (G4). Group 5: Silorane Adhesive system (3M/ESPE, St Paul, MN, USA) + restoration with Filtek Low Shrinkage Posterior P90 (3M/ESPE, St Paul, MN, USA). After polymerization, the teeth were immersed in 0.5% basic fuchsine solution and immediately washed. Using the Imagetool Software, the extent of dye along the margins was calculated as a percentage of total perimeter. The restorations were then transversally sectioned and the depth of dye penetration was calculated in mm, using the same software. Kruskal-Wallis analysis for all groups showed no statistical differences for extent (p = 0.54) or depth (p = 0.8364) of dye penetration. According to this methodology, the so-called low shrinkage composite resins had the same sealing ability compared to regular and flowable nanocomposite materials.

Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2%), E1b1b (11.6%), J2 (10.1%) and Q (7.2%). Most haplogroups of this population belonged to European male lineages (89.2%), followed by Amerindian (7.2%) and African (3.6%) lineages.

Microwave switchable frequency selective surface with high quality factor resonance and low polarization sensitivity

We present a microwave switchable frequency selective surface with high quality factor transmission resonance. The high quality resonance is achieved by excitation of the trapped-mode in array with two concentric metal rings in a cell on a silicon substrate. Optical activation of the silicon substrate permits to switch off the transmission band.