Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis

Jm Chen, A. Piepoli Bis, L. Le Bodic, P. Ruszniewski, M. Robaszkiewicz, Ph Deprez, O. Raguenes, I. Quere, A. Andriulli, C. Ferec

Research output: Contribution to journalArticlepeer-review


Several missense mutations, including R122H, N29I, K23R, A16V and D22G, in the cationic trypsinogen gene (PRSS1), have been associated with certain forms of hereditary pancreatitis (HP). Their occurrence in the idiopathic chronic pancreatitis (ICP) and whether novel mutations could be identified in PRSS1 remain to be further evaluated. These were addressed by the mutational screening of the entire coding sequence and the intronic/exonic boundaries of the PRSS1 gene in 221 ICP subjects, using a previously established denaturing gradient gel electrophoresis technique. Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two subjects in the cohort, strengthening that HP-associated PRSS1 mutations are rare in ICP. Additional missense mutations, including P36R, E79K, G83E, K92N and V123M, were identified once separately. By analogy with the known PRSS1 mutations, predisposition to pancreatitis by some of them, particularly the V123M autolysis cleavage site mutation, is suspected. Functional analysis is expected to clarify their possible medical consequences.

Original languageEnglish
Pages (from-to)189-193
Number of pages5
JournalClinical Genetics
Issue number3
Publication statusPublished - 2001


  • Cationic trypsinogen gene
  • Denaturing gradient gel electrophoresis
  • Genetic predisposition
  • Genetic testing
  • Hereditary pancreatitis
  • Idiopathic chronic pancreatitis
  • Mutation screening
  • PRSS1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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