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

• GABRIELA M REPETTO ^[1] ; ALONSO R PUGA ^[1] ; IRIS DELGADO ^[2]
  1. [1] Clínica Alemana-Universidad del Desarrollo Facultad de Medicina Programa de Genética Humana
  2. [2] Clínica Alemana-Universidad del Desarrollo Facultad de Medicina Instituto de Epidemiología y Políticas Públicas
• Localización: Biological Research, ISSN-e 0717-6287, ISSN 0716-9760, Vol. 40, Nº. 2, 2007, págs. 223-229
• Idioma: inglés
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• Resumen

  • 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