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

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dc.contributor.authorRepetto, Gabriela
dc.contributor.authorPuga, Alonso
dc.contributor.authorDelgado, Iris
dc.date.accessioned2015-01-13T13:47:55Z
dc.date.available2015-01-13T13:47:55Z
dc.date.issued2007
dc.descriptionCentro de Epidemiología y Políticas de Salud
dc.descriptionCentro de Genética Humana
dc.description.abstractCystic 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 deltΔF508 (ΔF508) CFTR mutations and their haplotypes were compared to affected family-based controls. ΔF508 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 ΔF508 alíeles in Chilean patients, and make unlikely the presence of a predominant founder mutation in the so-far unknown alíeles.
dc.identifier.citationBiological Research, 2007, vol. 40, n° 2, p. 223-229
dc.identifier.urihttp://hdl.handle.net/11447/47
dc.identifier.urihttp://dx.doi.org/10.4067/S0716-97602007000200013
dc.language.isoen_US
dc.publisherSociedad de Biología de Chile
dc.subjectCFTR gene
dc.subjectCystic fibrosis
dc.subjecthaplotype analys
dc.subjectΔF508
dc.titleXV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
dc.typeArtículo

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