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| 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 |
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| Hochmann,J; Cappetta,M; Pérez,J; Colistro,V; Nicolleti,S; Larre Borges,A; Ribas,G; Martínez Asuaga,M; Bertoni,B. |
| Malignant melanoma (MM) is the most dangerous type of skin cancer and the main cause of death produced by skin diseases. In Uruguay, the incidence rate is 3.8/100,000, one of the highest in Latin America. We analyzed the contribution of ancestry and MC1R as a candidate gene for sporadic melanoma in Uruguay. Our objective wasto investigate the possible associations between ancestry and the MC1R gene with sporadic melanoma in the Uruguayan population. To that end, one hundred patients with sporadic MM and 107 controls were recruited. Phenotypic factors and lifestyle were evaluated as risk factors. At the same time, we analyzed fiveancestry informative markers, the MC1R variants (R151, R160 and D294H) and five tag-SNPs. Phototype, atypical nevi, sunburns and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Melanoma susceptibility; Melanocortin 1 Receptor gene; Red Hair Color (RHC) mutations; Ancestry; Uruguayan population. |
| Ano: 2016 |
URL: http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S1852-62332016000100001 |
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