Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile

Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. More than 900 mutations have been detected in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The most common worldwide, is a deletion of phenylalanine 508 (deltaF508). Aim: To analyze t...

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Autores principales:	Molina F,Graciela, González R,Francisco J, Cave C,Ruth, Cornejo de L,Mónica, Navarro V,Sara, Deglin M,Marcel, Milinarsky T,Aída, Carvallo de SQ,Pilar
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2002
Materias:	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutation Suppression, genetic
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000800002
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spelling	oai:scielo:S0034-988720020008000022014-08-21Estudio clínico-genético molecular de la fibrosis quística en la V Región, ChileMolina F,GracielaGonzález R,Francisco JCave C,RuthCornejo de L,MónicaNavarro V,SaraDeglin M,MarcelMilinarsky T,AídaCarvallo de SQ,Pilar Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutation Suppression, genetic Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. More than 900 mutations have been detected in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The most common worldwide, is a deletion of phenylalanine 508 (deltaF508). Aim: To analyze the presence of mutations ∆F508, G542X, N1303K, G551D, R553X and S549N in patients from the 5th Region of Chile, with a clinical diagnosis of CF. Patients and methods: We studied 17 non-related patients, presenting frequent respiratory tract infections, malabsorption and positive sweat tests, or meconial ileum. Serum immunoglobulins (IgG, IgA, IgM), and total, CD3+ and B-lymphocytes, were determined to discard the presence of an immune deficiency. The molecular study of the gene was performed by Polymerase Chain Reaction amplification and restriction analysis. Results: Immunological parameters were normal in all patients. The deltaF508 mutation was detected in 11 chromosomes and the mutation G542X in 3 chromosomes. Conclusions: The mutation G542X was the second most frequent mutation found in this sample of Chilean CF patients. Since this mutation has a high frequency in Spanish CF patients, we suggest that this mutation might have had its origin in Spain (Rev Méd Chile 2002; 130: 850-8)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.130 n.8 20022002-08-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000800002es10.4067/S0034-98872002000800002
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutation Suppression, genetic
spellingShingle	Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Mutation Suppression, genetic Molina F,Graciela González R,Francisco J Cave C,Ruth Cornejo de L,Mónica Navarro V,Sara Deglin M,Marcel Milinarsky T,Aída Carvallo de SQ,Pilar Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
description	Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian population. More than 900 mutations have been detected in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene. The most common worldwide, is a deletion of phenylalanine 508 (deltaF508). Aim: To analyze the presence of mutations ∆F508, G542X, N1303K, G551D, R553X and S549N in patients from the 5th Region of Chile, with a clinical diagnosis of CF. Patients and methods: We studied 17 non-related patients, presenting frequent respiratory tract infections, malabsorption and positive sweat tests, or meconial ileum. Serum immunoglobulins (IgG, IgA, IgM), and total, CD3+ and B-lymphocytes, were determined to discard the presence of an immune deficiency. The molecular study of the gene was performed by Polymerase Chain Reaction amplification and restriction analysis. Results: Immunological parameters were normal in all patients. The deltaF508 mutation was detected in 11 chromosomes and the mutation G542X in 3 chromosomes. Conclusions: The mutation G542X was the second most frequent mutation found in this sample of Chilean CF patients. Since this mutation has a high frequency in Spanish CF patients, we suggest that this mutation might have had its origin in Spain (Rev Méd Chile 2002; 130: 850-8)
author	Molina F,Graciela González R,Francisco J Cave C,Ruth Cornejo de L,Mónica Navarro V,Sara Deglin M,Marcel Milinarsky T,Aída Carvallo de SQ,Pilar
author_facet	Molina F,Graciela González R,Francisco J Cave C,Ruth Cornejo de L,Mónica Navarro V,Sara Deglin M,Marcel Milinarsky T,Aída Carvallo de SQ,Pilar
author_sort	Molina F,Graciela
title	Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
title_short	Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
title_full	Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
title_fullStr	Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
title_full_unstemmed	Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile
title_sort	estudio clínico-genético molecular de la fibrosis quística en la v región, chile
publisher	Sociedad Médica de Santiago
publishDate	2002
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872002000800002
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Estudio clínico-genético molecular de la fibrosis quística en la V Región, Chile

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