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The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis.
  1. P Gasparini,
  2. G Novelli,
  3. X Estivill,
  4. D Olivieri,
  5. A Savoia,
  6. A Ruzzo,
  7. V Nunes,
  8. G Borgo,
  9. M Antonelli,
  10. R Williamson
  1. Istituto di Scienze Biologiche, Università di Verona, Italy.

    Abstract

    The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2/2 was found most often in patients who were severely affected by the disease. The genotype 1/2 was significantly over-represented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1/2 genotype was associated with a mild form, while the 2/2 genotype was found in patients with severe insufficiency. None of our patients had the 1/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.

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