XV-2c and KM 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations
Date
2007
Type:
Artículo
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ORCID:
Journal Title
Journal ISSN
Volume Title
Publisher
Sociedad de Biología de Chile
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Abstract
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 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.
Description
Centro de Epidemiología y Políticas de Salud
Centro de Genética Humana
Centro de Genética Humana
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Citation
Biological Research, 2007, vol. 40, n° 2, p. 223-229
Keywords
CFTR gene, Cystic fibrosis, haplotype analys, ΔF508