Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile

Background: The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the most common in CF patients in Chile and worldwide. Delta F508 has linkage disequilibrium w...

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Autores principales:	Vera L,Alejandra, Henríquez-Roldán,Carlos F, González R,Francisco J, Molina F,Graciela
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2005
Materias:	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Delta F508-CFTR protein
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000700003
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spelling	oai:scielo:S0034-988720050007000032014-08-12Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, ChileVera L,AlejandraHenríquez-Roldán,Carlos FGonzález R,Francisco JMolina F,Graciela Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Delta F508-CFTR protein Background: The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the most common in CF patients in Chile and worldwide. Delta F508 has linkage disequilibrium with two Single Nucleotide Polymorphisms (SNP), often used to define the haplotypic frameworks of CF mutations. Aim: To know the frequency of the delta F508 mutation and to establish the SNPs, M470V and T854T, haplotypic frequency, in a Valparaiso general population sample. Subjects and Methods: Fifty subjects were studied. Genetic material was obtained from blood samples, amplified by PCR and analyzed by restriction fragment length polymorphism. Results: Two of the 100 chromosomes analyzed, carried the delta F508 mutation. Therefore, the observed frequency carrier rate (0.02) was higher than the expected (0.01). Both carrier chromosomes had the same SNPs haplotypic framework (1-2). In normal chromosomes, the haplotype 2-1 was the most common. Discussion: These results suggest that the chromosomes that bear delta F508 mutation have most likely a Mediterranean European origin, since this haplotypic framework has been reported in that region. We suggest that CF could be more common in Valparaiso than it was previouslyinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.133 n.7 20052005-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000700003es10.4067/S0034-98872005000700003
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Delta F508-CFTR protein
spellingShingle	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Delta F508-CFTR protein Vera L,Alejandra Henríquez-Roldán,Carlos F González R,Francisco J Molina F,Graciela Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
description	Background: The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the most common in CF patients in Chile and worldwide. Delta F508 has linkage disequilibrium with two Single Nucleotide Polymorphisms (SNP), often used to define the haplotypic frameworks of CF mutations. Aim: To know the frequency of the delta F508 mutation and to establish the SNPs, M470V and T854T, haplotypic frequency, in a Valparaiso general population sample. Subjects and Methods: Fifty subjects were studied. Genetic material was obtained from blood samples, amplified by PCR and analyzed by restriction fragment length polymorphism. Results: Two of the 100 chromosomes analyzed, carried the delta F508 mutation. Therefore, the observed frequency carrier rate (0.02) was higher than the expected (0.01). Both carrier chromosomes had the same SNPs haplotypic framework (1-2). In normal chromosomes, the haplotype 2-1 was the most common. Discussion: These results suggest that the chromosomes that bear delta F508 mutation have most likely a Mediterranean European origin, since this haplotypic framework has been reported in that region. We suggest that CF could be more common in Valparaiso than it was previously
author	Vera L,Alejandra Henríquez-Roldán,Carlos F González R,Francisco J Molina F,Graciela
author_facet	Vera L,Alejandra Henríquez-Roldán,Carlos F González R,Francisco J Molina F,Graciela
author_sort	Vera L,Alejandra
title	Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
title_short	Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
title_full	Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
title_fullStr	Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
title_full_unstemmed	Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile
title_sort	búsqueda de la mutación delta f508 y análisis de dos polimorfismos de nucleótido único en el gen cftr, en una muestra de población general de valparaíso, chile
publisher	Sociedad Médica de Santiago
publishDate	2005
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872005000700003
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Búsqueda de la mutación delta F508 y análisis de dos polimorfismos de nucleótido único en el gen CFTR, en una muestra de población general de Valparaíso, Chile

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