XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur...

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Autores principales:	REPETTO,GABRIELA M, PUGA,ALONSO R, DELGADO,IRIS
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2007
Materias:	CFTR gene cystic fibrosis F508 haplotype analys
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013
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spelling	oai:scielo:S0716-976020070002000132008-06-13XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutationsREPETTO,GABRIELA MPUGA,ALONSO RDELGADO,IRIS CFTR gene cystic fibrosis F508 haplotype analys Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their haplotypes were compared to affected family-based controls. F508 showed marked linkage disequilibrium with XV-2c/KM.19 haplotype B, with 90% of alíeles on that haplotype. There was no difference in haplotype distribution between unknown mutations and normal controls. These results support a European origin for F508 alíeles in Chilean patients, and make unlikely the presence of a predominant founder mutation in the so-far unknown alíelesinfo:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.40 n.2 20072007-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013en10.4067/S0716-97602007000200013
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	CFTR gene cystic fibrosis F508 haplotype analys
spellingShingle	CFTR gene cystic fibrosis F508 haplotype analys REPETTO,GABRIELA M PUGA,ALONSO R DELGADO,IRIS XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
description	Cystic fibrosis (CF) is caused by mutations in the CFTR gene. More than 1600 mutations have been described, with frequencies that differ worldwide according to the ethnic origin of patients. A small group of mutations are recurrent on several populations. It has been shown that they each tend occur on specific chromosome 7 haplotypes, supporting the notion of a single origin for them. Less than 50% of mutations in Chilean patients have been identified to date. To indirectly assess the possible presence of a predominant founder mutation in the remaining unknown alíeles, we evaluated 2 polymorphic markers, XV-2c and KM.19, tightly linked to the CFTR locus. The study was done in Chilean CF patients with unknown or delt F508 ( F508) CFTR mutations and their haplotypes were compared to affected family-based controls. F508 showed marked linkage disequilibrium with XV-2c/KM.19 haplotype B, with 90% of alíeles on that haplotype. There was no difference in haplotype distribution between unknown mutations and normal controls. These results support a European origin for F508 alíeles in Chilean patients, and make unlikely the presence of a predominant founder mutation in the so-far unknown alíeles
author	REPETTO,GABRIELA M PUGA,ALONSO R DELGADO,IRIS
author_facet	REPETTO,GABRIELA M PUGA,ALONSO R DELGADO,IRIS
author_sort	REPETTO,GABRIELA M
title	XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
title_short	XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
title_full	XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
title_fullStr	XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
title_full_unstemmed	XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
title_sort	xv-2c and km: 19 haplotype analysis in chilean patients with cystic fibrosis and unknown cftr gene mutations
publisher	Sociedad de Biología de Chile
publishDate	2007
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013
work_keys_str_mv	AT repettogabrielam xv2candkm19haplotypeanalysisinchileanpatientswithcysticfibrosisandunknowncftrgenemutations AT pugaalonsor xv2candkm19haplotypeanalysisinchileanpatientswithcysticfibrosisandunknowncftrgenemutations AT delgadoiris xv2candkm19haplotypeanalysisinchileanpatientswithcysticfibrosisandunknowncftrgenemutations
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XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations

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