Consulta: creatorFacets:"Sans,Mónica"
Registros recuperados: 3
Data/hora: 09/06/2024 18:14:32

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population
Provedor de dados: Genetics and Molecular Biology
Autores: Luz,Julio Da; Ávila,Amalia; Icasuriaga,Sandra; Gongóra,María; Castillo,Luis; Serrón,Alejandra; Kimura,Elza Miyuki; Costa,Fernando Ferreira; Sans,Mónica; Sonati,Maria de Fátima.
Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had α-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alpha-globin; Beta-globin; Hemoglobinopathies; Uruguayan population.
Ano: 2013
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003

Interethnic admixture and the evolution of Latin American populations
Provedor de dados: Genetics and Molecular Biology
Autores: Salzano,Francisco Mauro; Sans,Mónica.
A general introduction to the origins and history of Latin American populations is followed by a systematic review of the data from molecular autosomal assessments of the ethnic/continental (European, African, Amerindian) ancestries for 24 Latin American countries or territories. The data surveyed are of varying quality but provide a general picture of the present constitution of these populations. A brief discussion about the applications of these results (admixture mapping) is also provided. Latin American populations can be viewed as natural experiments for the investigation of unique anthropological and epidemiological issues.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Interethnic admixture; Latin America; Population structure.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200003

alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay
Provedor de dados: Genetics and Molecular Biology
Autores: Luz,Julio A. da; Sans,Mónica; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins; Sonati,Maria de Fatima; Costa,Fernando Ferreira.
Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of the country was analyzed. Eight individuals (15.4%) were heterozygous for -alpha3,7thalassemia; seven of them (29.2%) were originally from the southern region, whereas one of them (3.6%) was from the northern region; the differences between both regions were statistically significant (p = 0.016 +/-0.003). The only structural mutation detected was betaS, which is typical of African populations. Four...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hemoglobinopathies; Alpha-thalassemias; HbS; Haplotypes; Afro-derived populations.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400002