Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency - An Italian collaborative study

Maurizio Ferrari, Mariano Antonelli, Fiorenza Bellini, Graziella Borgo, Ornella Castiglione, Lauretta Curcio, Bruno Dallapiccola, Marcella Devoto, Xavier Estivill, Paolo Gasparini, Annamaria Giunta, Lore Marianelli, Gianni Mastella, Giuseppe Novelli, Pierfranco Pignatti, Luca Romano, Giovanni Romeo, Manuela Seia, Robert Williamson

Research output: Contribution to journalArticle

Abstract

To determine the number and frequency of mutations that occur at the cystic fibrosis locus (CF), we have examined the allele and haplotype frequencies of eight polymorphic DNA markers linked to CF in 163 Italian patients who were sub-divided according to their clinical presentations. The distribution of haplotypes for the tightly linked polymorphisms KM.19 and XV-2c differ significantly between patients with and those without pancreatic insufficiency. The haplotype found most commonly in CF chromosomes occurs much more frequently in pancreatic insufficient than in pancreatic sufficient patients. Among the 19 pancreatic sufficient patients, 6 (31.6%) show at least one copy of the rare KM.19 = 1, XV-2c = 2 haplotype, as against 16 of 138 patients (11.6%) with pancreatic insufficiency. In addition, only 5 pancreatic sufficient patients (26.3%) are homozygous for the common 2,1 haplotype, as compared with 88 patients (63.8%) with pancreatic insufficiency. These findings support the hypothesis of allelic heterogeneity at a single locus in CF and suggest that different mutations underlie the presence or absence of pancreatic insufficiency in this disorders.

Original languageEnglish
Pages (from-to)435-438
Number of pages4
JournalHuman Genetics
Volume84
Issue number5
DOIs
Publication statusPublished - Apr 1990

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency - An Italian collaborative study'. Together they form a unique fingerprint.

  • Cite this

    Ferrari, M., Antonelli, M., Bellini, F., Borgo, G., Castiglione, O., Curcio, L., Dallapiccola, B., Devoto, M., Estivill, X., Gasparini, P., Giunta, A., Marianelli, L., Mastella, G., Novelli, G., Pignatti, P., Romano, L., Romeo, G., Seia, M., & Williamson, R. (1990). Genetic differences in cystic fibrosis patients with and without pancreatic insufficiency - An Italian collaborative study. Human Genetics, 84(5), 435-438. https://doi.org/10.1007/BF00195815