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metadata.dc.type: | Artigo de Periódico |
Título : | Low frequency of the ΔF508 mutation of the CFTR gene in a highly admixed population in Bahia, Brazil |
Otros títulos : | Human Biology |
Autor : | Costa, Fabiana Maia Moura Santana, Maria Angélica Pinheiro Santos Lemos, Antônio Carlos Moreira Acosta, Angelina Xavier |
metadata.dc.creator: | Costa, Fabiana Maia Moura Santana, Maria Angélica Pinheiro Santos Lemos, Antônio Carlos Moreira Acosta, Angelina Xavier |
Resumen : | Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2,000 to 1:8,000. The F508 mutation (66%) is predominant among more than 1,300 different mutations of the CFTR gene. The population of the state of Bahia, in northeastern Brazil, is highly admixed (mainly African and Portuguese descendants), and so far, no study has been carried out to assess the molecular basis of CF in this population.We determined the F508 mutation frequency in 503 individuals from the general population of Salvador, the capital of the state of Bahia, and in 144 CF patients from several cities in Bahia. In the general population samples we found 4 individuals heterozygous for the F508 mutation (allele frequency of 0.4%). This frequency was lower than that found in the state of Rio de Janeiro, in southeastern Brazil, and similar to that reported for the state of Paraná, in the far south. In the CF patients we found 9 heterozygous individuals and 8 homozygous individuals (allele frequency of 8.68%) for the F508 mutation. This frequency is considerably lower than the average frequency of CF in the world population and in the Brazilian CF population of European ancestry (47%). These data could be explained by the intense admixture among the population in Bahia, and they suggest a heterogeneous molecular basis for CF in this area of Brazil. |
Palabras clave : | Cystic fibrosis F508 mutation CFTR gene Population genetics Brasil |
metadata.dc.rights: | Acesso Aberto |
URI : | http://repositorio.ufba.br/ri/handle/ri/15961 |
Fecha de publicación : | 2007 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
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10.1353hub.2007.0040.pdf | 170,84 kB | Adobe PDF | Visualizar/Abrir |
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