Consulta: creatorFacets:"Hutz,Mara H."
Registros recuperados: 7
Data/hora: 02/06/2024 05:06:41

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

The effects of old and recent migration waves in the distribution of HBB*S globin gene haplotypes
Provedor de dados: 74
Autores: Lindenau,Juliana D.; Wagner,Sandrine C.; Castro,Simone M. de; Hutz,Mara H.
Abstract Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta (β) globin chain. The HBB*S gene is in linkage disequilibrium with five main haplotypes in the β-globin-like gene cluster named according to their ethnic and geographic origins: Bantu (CAR), Benin (BEN), Senegal (SEN), Cameroon (CAM) and Arabian-Indian (ARAB). These haplotypes demonstrated that the sickle cell mutation arose independently at least five times in human history. The distribution of βS haplotypes among Brazilian populations showed a predominance of the CAR haplotype. American populations were clustered in two groups defined by CAR or BEN haplotype frequencies. This scenario is compatible with historical records about the slave trade in the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: ΒS globin haplotypes; Sickle cell disease; Hemoglobin S; Migration.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400515

The lactase persistence genotype is a protective factor for the metabolic syndrome
Provedor de dados: 74
Autores: Friedrich,Deise C.; Andrade,Fabiana M de; Fiegenbaum,Marilu; Almeida,Silvana de; Mattevi,Vanessa S.; Callegari-Jacques,Sidia M.; Hutz,Mara H.
The Metabolic Syndrome (MetS) is defined as a pattern of metabolic disturbances, which include central obesity, insulin resistance and hyperglycemia, dyslipidemia, and hypertension. Milk has been promoted as a healthy beverage that can improve the management of MetS. Most human adults, however, down-regulate the production of intestinal lactase after weaning. Lactase encoded by the LCT gene is necessary for lactose digestion. The -13910C &gt; T SNP (rs4988235) is responsible for the lactase persistence phenotype in European populations. We herein investigated whether the lactase persistence genotype is also associated with the MetS in subjects from a Brazilian population of European descent. This study consisted of 334 individuals (average age of 41 years)...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Metabolic syndrome; Lactase persistence; Hypolactasia; Lactose.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000500001

Identification of environmental and genetic factors that influence warfarin time in therapeutic range
Provedor de dados: 74
Autores: Botton,Mariana R.; Viola,Patrícia P.; Meireles,Mariana R.; Bruxel,Estela M.; Zuchinali,Priccila; Bandinelli,Eliane; Rohde,Luis E.; Leiria,Tiago L. L.; Salamoni,Joyce Y. Y.; Garbin,Arthur P.; Hutz,Mara H.
Abstract Warfarin is an oral anticoagulant prescribed to prevent and treat thromboembolic disorders. It has a narrow therapeutic window and must have its effect controlled. Prothrombin test, expressed in INR value, is used for dose management. Time in therapeutic range (TTR) is an important outcome of quality control of anticoagulation therapy and is influenced by several factors. The aim of this study was to identify genetic, demographic, and clinical factors that can potentially influence TTR. In total,422 patients using warfarin were investigated. Glibenclamide co-medication and presence of CYP2C9*2 and/or *3 alleles were associated with higher TTR, while amiodarone, acetaminophen and verapamil co-medication were associated with lower TTR. Our data...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CYP2C9; VKORC1; ASPH; TTR; Warfarin.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000300302

High interpopulation homogeneity in Central Argentina as assessed by Ancestry Informative Markers (AIMs)
Provedor de dados: 74
Autores: García,Angelina; Dermarchi,Darío A.; Tovo-Rodrigues,Luciana; Pauro,Maia; Callegari-Jacques,Sidia M.; Salzano,Francisco M.; Hutz,Mara H.
The population of Argentina has already been studied with regard to several genetic markers, but much more data are needed for the appropriate definition of its genetic profile. This study aimed at investigating the admixture patterns and genetic structure in Central Argentina, using biparental markers and comparing the results with those previously obtained by us with mitochondrial DNA (mtDNA) in the same samples. A total of 521 healthy unrelated individuals living in 13 villages of the Córdoba and San Luis provinces were tested. The individuals were genotyped for ten autosomal ancestry informative markers (AIMs). Allele frequencies were compared with those of African, European and Native American populations, chosen to represent parental contributions....
Tipo: Info:eu-repo/semantics/article
Palavras-chave: AIMs; Córdoba; San Luis; Migration; Population structure.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000300324

CYP1A1, GSTM1, GSTT1 and GSTP1 polymorphisms in an Afro-Brazilian group
Provedor de dados: 74
Autores: Kvitko,Kátia; Gaspar,Pedro de Abreu; Torres,Martiela Ribeiro; Hutz,Mara H.
Gene polymorphisms involved in the metabolism of drugs and chemical carcinogens seem to be responsible for differences in the susceptibility of individuals to cancer, but genetic population studies are needed to characterize these polymorphisms in different ethnic populations. We investigated polymorphisms of the cytochrome P450 (CYP) gene CYP1A1 and the glutathione S-transferase (GSTs) genes GSTM1, GSTT1 and GSTP1 in a sample of Afro-Brazilians from the southern Brazilian city of Porto Alegre to verify if there were ethnic differences compared to the polymorphisms of the same genes in a previously described sample of Brazilians of European descent from the same city. The allele frequencies detected in the Afro-Brazilian population investigated in this...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: African; Brazilian; CYP1A1; European; GSTs; Porto Alegre.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400006

Beta-globin gene cluster haplotypes in the Mapuche Indians of Argentina
Provedor de dados: 74
Autores: Kaufman,Letícia; Carnese,Francisco R.; Goicoechea,Alicia; Dejean,Cristina; Salzano,Francisco M.; Hutz,Mara H.
Haplotypes derived from five polymorphic restriction sites in the beta-globin gene cluster were investigated in 86 chromosomes from the Argentinian Mapuche. These results were integrated with those previously obtained for ten Brazilian Indian tribes. Eight haplotypes were identified, the most frequent being 2 (57%) and 6 (27%). The presence of haplotype 3 in 2% of the Mapuche chromosomes is probably an evidence of admixture with individuals of African ancestry. Due to the high number of haplotypes observed, heterozygosity as measured by the Gini-Simpson index was higher in the Mapuche than in Brazilian Indians. The haplotypic distribution in the Mapuche was also significantly different from those of all Brazilian tribes investigated. This heterogeneity...
Tipo: Info:eu-repo/semantics/article
Ano: 1998
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400003