- SHORT COMMUNICATION -
Potential influence of the pancreatitis related genes on the phenotype of cystic fibrosis patients
ATHANASIOS KALOGERIDIS1,2, JOHN TSANAKAS2 and ANASTASIA KOUVATSI1*

1 Department of Genetics, Development and Molecular Biology, School of Biology, Aristotle University,
Thessaloniki 54124, Greece
2 ration General Hospital of Thessaloniki, Thessaloniki 54642, Greece


Abstract

Ôhe DNA of 83 unrelated patients with cystic fibrosis (CF) from Northern Greece was analyzed for common mutations in the pancreatitis associated genes (PRSS1 and PSTI), in order to test the possible relative contribution of these two genes to the CF disease phenotype. PCR amplification of different regions of the two genes was followed by restriction digestion or sequencing analysis. One patient, homozygous for the ÄF508 mutation, was found to be homozygous for the A16V mutation of the PRSS1 gene. The existence of the A16V substitution in a single patient, with good pulmonary status, may represent a mere coincidence or may be an indication that the PRSS1 gene acts as a modifier gene in the pathogenesis of cystic fibrosis.


 
< back
.