Consulta: subjectFacets:"Brazilian population"
Registros recuperados: 23
Data/hora: 03/06/2024 08:29:41

Fixed bin frequency distribution for the VNTR Loci D2S44, D4S139, D5S110, and D8S358 in a population sample from Minas Gerais, Brazil
Provedor de dados: 74
Autores: Parreira,Kleber Simônio; Vieira,Gismar Silva; Inácio,Juarez; Moura-Neto,Rodrigo Soares; Goulart,Luiz Ricardo.
Fixed bin frequencies for the VNTR loci D2S44, D4S139, D5S110, and D8S358 were determined in a Minas Gerais population sample. The data were generated by RFLP analysis of HaeIII-digested genomic DNA and chemiluminescent detection. The four VNTR loci have met Hardy-Weinberg equilibrium, and there was no association of alleles among VNTR loci. The frequency data can be used in forensic analyses and paternity tests to estimate the frequency of a DNA profile in the general Brazilian population.
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Fixed-bin frequency; VNTR loci; Brazilian population.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000300004

Prevalence of common α-thalassemia determinants in south Brazil: importance for the diagnosis of microcytic anemia
Provedor de dados: 74
Autores: Wagner,Sandrine C.; Castro,Simone M. de; Gonzalez,Tatiana P.; Santin,Ana P.; Filippon,Leticia; Zaleski,Carina F.; Azevedo,Laura A.; Amorin,Bruna; Callegari-Jacques,Sidia M.; Hutz,Mara H.
Alpha thalassemia has not been systematically investigated in Brazil. In this study, 493 unrelated individuals from the southernmost Brazilian state of Rio Grande do Sul were screened for deletional forms of α-thalassemia. One hundred and one individuals had microcytic anemia (MCV &lt; 80 fL) and a normal hemoglobin pattern (Hb A2 &lt; 3.5% and Hb F &lt; 1%). The subjects were screened for -α3.7,-α4.2,-α20.5, -SEA and -MED deletions but only the -α3.7 allele was detected. The -α3.7 allele frequency in Brazilians of European and African ancestry was 0.02 and 0.12, respectively, whereas in individuals with microcytosis the frequency was 0.20. The prevalence of α-thalassemia was significantly higher in individuals with microcytosis than in healthy individuals...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-thalassemia; Brazilian population; Genotype; Hemoglobin; Microcytosis.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400008

Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients
Provedor de dados: 74
Autores: Mota,Natália O.; Kimura,Elza M.; Ferreira,Roberta D.; Pedroso,Gisele A.; Albuquerque,Dulcinéia M.; Ribeiro,Daniela M.; Santos,Magnun N. N.; Bittar,Cristina M.; Costa,Fernando F.; Sonati,Maria de Fatima.
Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Α-Thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; MLPA; Brazilian population.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500768

Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population
Provedor de dados: 74
Autores: Lins,Tulio C.; Vieira,Rodrigo G.; Grattapaglia,Dario; Pereira,Rinaldo W.
The vitamin D receptor (VDR) is an essential protein related to bone metabolism. Some VDR alleles are differentially distributed among ethnic populations and display variable patterns of linkage disequilibrium (LD). In this study, 200 unrelated Brazilians were genotyped using 21 VDR single nucleotide polymorphisms (SNPs) and 28 ancestry informative markers. The patterns of LD and haplotype distribution were compared among Brazilian and the HapMap populations of African (YRI), European (CEU) and Asian (JPT+CHB) origins. Conditional regression and haplotype-specific analysis were performed using estimates of individual genetic ancestry in Brazilians as a quantitative trait. Similar patterns of LD were observed in the 5' and 3' gene regions. However, the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Brazilian population; HapMap; Haplotype; Population diversity; VDR.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300003

Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
Provedor de dados: 74
Autores: Alcoforado,Gustavo Henrique de Medeiros; Bezerra,Christiane Medeiros; Lemos,Telma Maria Araújo Moura; Oliveira,Denise Madureira de; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Medeiros,Tereza Maria Dantas de.
α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α3.7/αα) deletions and 1 (0.1%) homozy- gous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-thalassemia; -α3.7 kb deletion; Brazilian population.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400008

A systematic scoping review of the genetic ancestry of the Brazilian population
Provedor de dados: 74
Autores: Souza,Aracele Maria de; Resende,Sarah Stela; Sousa,Taís Nóbrega de; Brito,Cristiana Ferreira Alves de.
Abstract The genetic background of the Brazilian population is mainly characterized by three parental populations: European, African, and Native American. The aim of this study was to overview the genetic ancestry estimates for different Brazilian geographic regions and analyze factors involved in these estimates. In this systematic scoping review were included 51 studies, comprehending 81 populations of 19 states from five regions of Brazil. To reduce the potential of bias from studies with different sampling methods, we calculated the mean genetic ancestry weighted by the number of individuals. The weighted mean proportions of European, African, and Native American ancestries were 68.1%, 19.6%, and 11.6%, respectively. At the regional level, the highest...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Scoping review; Genetic ancestry; Brazilian population; Genetic admixture.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400495

Glutathione S-transferase Mu (GSTM1) null genotype in relation to gender, age and smoking status in a healthy Brazilian population
Provedor de dados: 74
Autores: Losi-Guembarovski,Roberta; D’Arce,Luciana Paula Grégio; Cólus,Ilce Mara de Syllos.
The glutathione S-transferase mu (GSTM1) gene which acts during phase II of xenobiotic metabolism is polymorphic in the population, being absent in about 30-50% of individuals depending on the ethnic group from which they come. Epidemiological studies suggest that individuals who are homozygous null at the GSTM1 locus may have an increased risk of developing various types of neoplastic disease. We used the polymerase chain reaction (PCR) to estimate the frequency of GSTM1 in 176 healthy individuals from the north of Paraná (Brazilian state), the null genotype being detected in 48.86% of these individuals. The Student’s t-test was used to evaluate the frequency of the glutathione S-transferase null genotype in relation to age, gender and smoking habit and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Glutathione S-transferase Mu (GSTM1); Control individuals; Brazilian population; Age; Smoking habit.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000400001

XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)
Provedor de dados: 74
Autores: Falagan-Lotsch,Priscila; Rodrigues,Marina S.; Esteves,Viviane; Vieira,Roberto; Amendola,Luis C.; Pagnoncelli,Dante; Paixão,Júlio C.; Gallo,Claudia V. De Moura.
The X-ray repair cross-complementing Group1 (XRCC1) gene has been defined as essential in the base excision repair (BER) and single-strand break repair processes. This gene is highly polymorphic, and the most extensively studied genetic changes are in exon 6 (Arg194Trp) and in exon 10 (Arg399Gln). These changes, in conserved protein sites, may alter the base excision repair capacity, increasing the susceptibility to adverse health conditions, including cancer. In the present study, we estimated the frequencies of the XRCC1 gene polymorphisms Arg194Trp and Arg399Gln in healthy individuals and also in women at risk of breast cancer due to family history from Rio de Janeiro. The common genotypes in both positions (194 and 399) were the most frequent in this...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: XRCC1 gene polymorphisms; Breast cancer susceptibility; Brazilian population.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000200008

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil
Provedor de dados: 74
Autores: Silveira,Zama Messala Luna da; Barbosa,Maria das Vitórias; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de.
35 unrelated individuals were studied for characterization as either heterozygous or homozygous for beta-thalassemia. Molecular analysis was done by PCR/RFLP to detect the mutations most commonly associated with beta-thalassemia (β0IVS-I-1, β+IVS-I-6, and β039). In the patients who showed none of these mutations, the beta-globin genes were sequenced. Of the 31 heterozygous patients, 13 (41.9%) had the β+IVS-I-6 mutation, 15 (48.4%) the β0IVS-I-1 mutation, 2 (6.5%) the β+IVS-I-110 mutation and 1 (3.2%) the β+IVS-I-5 mutation. IVS-I-6 was detected in the four homozygotes. The mutation in codon 39, often found in previous studies in Brazil, was not detected in the present case. This is the first study aiming at identifying mutations that determine...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hereditary hemoglobinopathies; Beta-thalassemia; Mutations; PCR-RFLP; Brazilian population.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300010

Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil
Provedor de dados: 74
Autores: Cabral,Cynthia Hatsue Kitayama; Serafim,Édvis Santos Soares; Medeiros,Waleska Rayane Dantas Bezerra de; Fernandes,Thales Allyrio Araújo de Medeiros; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sonati,Maria de Fátima; Rebecchi,Ivanise Marina Moretti; Medeiros,Tereza Maria Dantas de.
βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Haplotypes; Β-globin; Sickle-cell anemia; Brazilian population; S hemoglobin.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000300009

Nutrient Foramina in the Upper and Lower Limb Long Bones: Morphometric Study in Bones of Southern Brazilian Adults
Provedor de dados: 77
Autores: Pereira,G. A. M; Lopes,P. T. C; Santos,A. M. P. V; Silveira,F. H. S.
The major blood supply to long bones occurs through the nutrient arteries, which enter through the nutrient foramina. This supply is essential during the growing period, during the early phases of ossification, and in procedures such as bone grafts, tumor resections, traumas, congenital pseudoarthrosis, and in transplant techniques in orthopedics. The present study analyzed the location and the number of nutrient foramina in the diaphysis of 885 long bones of the upper and lower limbs of adults: 174 humeri, 157 radii, 146 ulnae, 152 femora, 142 tibiae and 114 fibulae. The location of the nutrient foramina is predominant on the anterior aspect of the upper limb long bones, and on the posterior aspect of the lower limb long bones. The majority of the bones...
Tipo: Journal article
Palavras-chave: Nutrient foramina; Long bones; Vascularization; Brazilian population.
Ano: 2011
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000200035

The song of the Brazilian population of Humpback Whale Megaptera novaeangliae, in the year 2000: individual song variations and possible implications
Provedor de dados: 42
Autores: Arraut,Eduardo M.; Vielliard,Jacques M.E.
The song of the Brazilian population of the Humpback Whale Megaptera novaeangliae was studied in its breeding and calving ground, the Abrolhos Bank, Bahia, Brazil, from July to November 2000. Aural and spectral analyses of digital recordings were completed for approximately 20 song cycles, totaling 5 hours of song from 10 different recording events. We identified 24 note types, organized in five themes. All songs presented the same themes and the order in which they were sung did not vary. We registered the appearance of a note type and the disappearance of a phrase ending, which indicate that the song changed as the season progressed. Moreover, we detected individual variation in the way singers performed certain complex note types. As songs are...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Humpback Whale; Megaptera novaeangliae; Song; Brazilian population; 2000; Individual song variation.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652004000200028

Distribution of SDF1-3'A polymorphisms in three different ethnic groups from Brazil
Provedor de dados: 55
Autores: Grimaldi,Rogerio; Acosta,AX; Machado,TMB; Bomfim,TF; Galvão-Castro,B.
A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3'A), being prevalent in all ethnic groups, except in Africans. This mutation is associated with the onset of AIDS progression. Our aim was to identify the frequency of this allele in different groups from Brazil: Tiriyó and Waiampi Amerindian tribes (Asian ancestry); selected blood donors from Joinville (German descendents); and from Salvador (predominance of African and Portuguese mixture). SDF1-3'A was screened by PCR/RFLP with MspI enzyme. Our results showed a high allelic frequency in Tiriyó tribe (0.24) and Joinville population (0.21), and a frequency of 0.17 and 0.05 in the Salvador population and in the Waiampi tribe, respectively. There was no statistical difference...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: SDF1-3'A polymorphism; Brazilian population; HIV-1 co-receptor.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702010000200017

Normative data for the Brazilian population in the Boston Diagnostic Aphasia Examination: influence of schooling
Provedor de dados: 56
Autores: Radanovic,M.; Mansur,L.L.; Scaff,M.
In Neurolinguistics, the use of diagnostic tests developed in other countries can create difficulties in the interpretation of results due to cultural, demographic and linguistic differences. In a country such as Brazil, with great social contrasts, schooling exerts a powerful influence on the abilities of normal individuals. The objective of the present study was to identify the influence of schooling on the performance of normal Brazilian individuals in the Boston Diagnostic Aphasia Examination (BDAE), in order to obtain reference values for the Brazilian population. We studied 107 normal subjects ranging in age from 15 to 84 years (mean ± SD = 47.2 ± 17.6 years), with educational level ranging from 1 to 24 years (9.9 ± 4.8 years). Subjects were compared...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Boston Diagnostic Aphasia Examination; Schooling; Brazilian population.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004001100019

Polymorphism of the promoter region and exon 1 of the CTLA4 gene in endemic pemphigus foliaceus (fogo selvagem)
Provedor de dados: 56
Autores: Pavoni,D.P.; Cerqueira,L.B.; Roxo,V.M.M.S.; Petzl-Erler,M.L.
Endemic pemphigus foliaceus (EPF) is an autoimmune bullous skin disease characterized by acantholysis and antibodies against a desmosomal protein, desmoglein 1. Genetic and environmental factors contribute to development of this multifactorial disease. HLA class II and some cytokine gene polymorphisms are the only genetic markers thus far known to be associated with susceptibility to or protection from EPF. The cytotoxic T-lymphocyte antigen-4 gene (CTLA4) encodes a key immunoreceptor molecule that regulates and inhibits T-cell proliferation. It participates in the regulatory process controlling autoreactivity and therefore has been considered a strong candidate gene in autoimmune diseases. In the search for genes that might influence EPF pathogenesis, we...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CTLA4; Pemphigus; Fogo selvagem; Autoimmunity; Genetic susceptibility; Brazilian population.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000900010

Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
Provedor de dados: 56
Autores: Suemasu,C.N.; Kimura,E.M.; Oliveira,D.M.; Bezerra,M.A.C.; Araújo,A.S.; Costa,F.F.; Sonati,M.F.
Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for their identification. The multiplex ligation-dependent probe amplification (MLPA) technique has recently been used for this purpose and was successfully used in the present study to detect the molecular alterations responsible for the alpha-thalassemic phenotypes in 8 unrelated individuals (3 males and 5 females; age, 4 months to 30 years) in whom the molecular basis of the disease could not be determined...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-thalassemia; Hb H disease; Multiplex ligation-dependent probe amplification; Genetic polymorphisms; Brazilian population.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000100003

IGF2, LEPR, POMC, PPARG, and PPARGC1 gene variants are associated with obesity-related risk phenotypes in Brazilian children and adolescents
Provedor de dados: 56
Autores: Queiroz,E.M.; Cândido,A.P.C.; Castro,I.M.; Bastos,A.Q.A.; Machado-Coelho,G.L.L.; Freitas,R.N.
Association studies of genetic variants and obesity and/or obesity-related risk factors have yielded contradictory results. The aim of the present study was to determine the possible association of five single-nucleotide polymorphisms (SNPs) located in the IGF2, LEPR, POMC, PPARG, and PPARGC1 genes with obesity or obesity-related risk phenotypes. This case-control study assessed overweight (n=192) and normal-weight (n=211) children and adolescents. The SNPs were analyzed using minisequencing assays, and variables and genotype distributions between the groups were compared using one-way analysis of variance and Pearson's chi-square or Fisher's exact tests. Logistic regression analysis adjusted for age and gender was used to calculate the odds ratios (ORs)...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Association study; Obesity; Genetic polymorphisms; Brazilian population.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700595

Apolipoprotein E polymorphism in Brazilian dyslipidemic individuals: Ouro Preto study
Provedor de dados: 56
Autores: Mendes-Lana,A.; Pena,G.G.; Freitas,S.N.; Lima,A.A.; Nicolato,R.L.C.; Nascimento-Neto,R.M.; Machado-Coelho,G.L.L.; Freitas,R.N.
The influence of apolipoprotein E alleles and genotypes on plasma lipid levels was determined in 185 individuals of mixed ethnicity living in Ouro Preto, Brazil. DNA was obtained from blood samples and the genotypes were determined by an RFLP-PCR procedure. The *3 allele was the most frequent (72%), followed by *4 (20%) and *2 (8%); *4 frequency was higher and *2 frequency was lower in the dyslipidemic group than in the normal control group. The *2 carriers presented lower LDL and total cholesterol levels compared to the *3 and *4 carriers. All six expected genotypes were observed in the individuals genotyped: E2/2 (2.1%), E4/4 (2.7%), E2/4 (3.7%), E2/3 (8.0%), E3/3 (53.3%), E3/4 (29.9%); no difference in genotype frequencies was found between the normal...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Apolipoprotein E polymorphism; Lipids; Dyslipidemia; Brazilian population; Atherosclerosis.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000100007

ßS-Haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil
Provedor de dados: 56
Autores: Gonçalves,M.S.; Bomfim,G.C.; Maciel,E.; Cerqueira,I.; Lyra,I.; Zanette,A.; Bomfim,G.; Adorno,E.V.; Albuquerque,A.L.; Pontes,A.; Dupuit,M.F.; Fernandes,G.B.; Reis,M.G. dos.
ßS-Globin haplotypes were studied in 80 (160 ßS chromosomes) sickle cell disease patients from Salvador, Brazil, a city with a large population of African origin resulting from the slave trade from Western Africa, mainly from the Bay of Benin. Hematological and hemoglobin analyses were carried out by standard methods. The ßS-haplotypes were determined by PCR and dot-blot techniques. A total of 77 (48.1%) chromosomes were characterized as Central African Republic (CAR) haplotype, 73 (45.6%) as Benin (BEN), 1 (0.63%) as Senegal (SEN), and 9 (5.63%) as atypical (Atp). Genotype was CAR/CAR in 17 (21.3%) patients, BEN/BEN in 17 (21.3%), CAR/BEN in 37 (46.3%), BEN/SEN in 1 (1.25%), BEN/Atp in 1 (1.25%), CAR/Atp in 6 (7.5%), and Atp/Atp in 1 (1.25%). Hemoglobin...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Beta(S)-haplotypes; Fetal hemoglobin; Sickle cell anemia; S hemoglobin; Brazilian population.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000001

Protective effect of the APOE-e3 allele in Alzheimer’s disease
Provedor de dados: 56
Autores: de-Almada,B.V.P.; de-Almeida,L.D.; Camporez,D.; de-Moraes,M.V.D.; Morelato,R.L.; Perrone,A.M.S.; Belcavello,L.; Louro,I.D.; de-Paula,F.
Although several alleles of susceptibility to Alzheimer’s disease (AD) have been studied in the last decades, few polymorphisms have been considered as risk factors for the disease. Among them, the APOE-e4 allele appears to be the major genetic risk factor for the onset of the disease. However, it is important to confirm the potential susceptibility of these genetic variants in different populations in order to establish a genetic profile for the disease in specific communities. This study analyzed the APOE polymorphisms regarding susceptibility to AD in a sample of 264 individuals (primarily Caucasians; 82 cases and 182 controls) in the population from Vitória, ES, Brazil, by PCR restriction fragment length polymorphism (PCR-RFLP) methods. The patients...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alzheimer’s disease; APOE-e3 allele; APOE-e4 allele; Brazilian population; Case-control study.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000100002

Vitamin D receptor alleles and bone mineral density in a normal premenopausal Brazilian female population
Provedor de dados: 56
Autores: Lazaretti-Castro,M.; Duarte-de-Oliveira,M.A.; Russo,E.M.K.; Vieira,J.G.H.
Studies on the association between vitamin D receptor (VDR) polymorphism and bone mineral density (BMD) in different populations have produced conflicting results probably due to ethnic differences in the populations studied. The Brazilian population is characterized by a very broad genetic background and a high degree of miscegenation. Of an initial group of 164, we studied 127 women from the city of São Paulo, aged 20 to 47 years (median, 31 years), with normal menses, a normal diet and no history of diseases or use of any medication that could alter BMD. VDR genotype was assessed by PCR amplification followed by BsmI digestion of DNA isolated from peripheral leukocytes. BMD was measured using dual energy X-ray absorptiometry (Lunar DPX) at the lumbar...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Vitamin D receptor genotype; Bone mineral density; Brazilian population.
Ano: 1997
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X1997000800003

High prevalence of alpha-thalassemia among individuals with microcytosis and hypochromia without anemia
Provedor de dados: 56
Autores: Borges,E.; Wenning,M.R.S.C.; Kimura,E.M.; Gervásio,S.A.; Costa,F.F.; Sonati,M.F.
In order to determine the contribution of alpha-thalassemia to microcytosis and hypochromia, 339 adult outpatients seen at Unicamp University Hospital (with the exception of the Clinical Hematology outpatient clinics), who showed normal hemoglobin (Hb) levels and reduced mean corpuscular volume and mean corpuscular hemoglobin, were analyzed. Ninety-eight were Blacks (28.9%) and 241 were Caucasians (71.1%). In all cases, Hb A2 and F levels were either normal or low. The most common deletional and nondeletional forms of alpha-thalassemia [-alpha3.7, -alpha4.2, --MED, -(alpha)20.5, alphaHphIalpha, alphaNcoIalpha, &lt;FONT FACE="Symbol"&gt;aa&lt;/FONT&gt;NcoI and alphaTSAUDI] were investigated by PCR and restriction enzyme analyses. A total of 169 individuals...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-thalassemia; Microcytosis; Hypochromia; Hemoglobinopathies; Brazilian population.
Ano: 2001
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2001000600009

Frequency of CCR5delta32 in Brazilian populations
Provedor de dados: 56
Autores: Vargas,A.E.; Marrero,A.R.; Salzano,F.M.; Bortolini,M.C.; Chies,J.A.B.
A sample of 103 randomly chosen healthy individuals from Alegrete, RS, Brazil, was tested for the CCR5delta32 allele, which is known to influence susceptibility to HIV-1 infection. The CCR5delta32 allele was identified by PCR amplification using specific primers flanking the region of deletion, followed by electrophoresis on a 3% agarose gel. The data obtained were compared to those reported for other populations and interpreted in terms of Brazilian history. The individuals studied came from a highly admixed population. Most of them were identified as white (N = 59), while blacks and browns (mulattoes) were N = 13 and N = 31, respectively. The observed frequencies, considering the white, black and brown samples (6.8, 3.8, and 6.4%, respectively), suggest...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: CCR5; Chemokine receptors; Brazilian population; Gene flow.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000300002