The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis

Paolo Gasparini, Giuseppe Novelli, Xavier Estivill, Dario Olivieri, Anna Savoia, Anna Ruzzo, Virginia Nunes, Graziella Borgo, Mariano Antonelli, Robert Williamson, Pier Franco Pignatti, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

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 overrepresented 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.

Original languageEnglish
Pages (from-to)17-20
Number of pages4
JournalJournal of Medical Genetics
Volume27
Issue number1
Publication statusPublished - Jan 1990

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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