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| Registros recuperados: 23 | |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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, <FONT FACE="Symbol">aa</FONT>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 |
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| 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 |
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| 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 |
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| 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 < 80 fL) and a normal hemoglobin pattern (Hb A2 < 3.5% and Hb F < 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Registros recuperados: 23 | |
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