dc.creator | REPETTO,GABRIELA M | |
dc.creator | PUGA,ALONSO R | |
dc.creator | DELGADO,IRIS | |
dc.date | 2007-01-01 | |
dc.date.accessioned | 2019-05-02T21:21:37Z | |
dc.date.available | 2019-05-02T21:21:37Z | |
dc.identifier | https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0716-97602007000200013 | |
dc.identifier.uri | http://revistaschilenas.uchile.cl/handle/2250/81757 | |
dc.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 | |
dc.format | text/html | |
dc.language | en | |
dc.publisher | Sociedad de Biología de Chile | |
dc.relation | 10.4067/S0716-97602007000200013 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.source | Biological Research v.40 n.2 2007 | |
dc.subject | CFTR gene | |
dc.subject | cystic fibrosis | |
dc.subject | F508 | |
dc.subject | haplotype analys | |
dc.title | XV-2c and KM: 19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations | |