Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1)

C Le Maréchal; J F Bretagne; O Raguénès; I Quéré; J M Chen; C Ferec

doi:10.1006/mgme.2001.3246

Identification of a novel pancreatitis-associated missense mutation, R116C, in the human cationic trypsinogen gene (PRSS1)

Mol Genet Metab. 2001 Nov;74(3):342-4. doi: 10.1006/mgme.2001.3246.

Authors

C Le Maréchal¹, J F Bretagne, O Raguénès, I Quéré, J M Chen, C Ferec

Affiliation

¹ INSERM EMI-01 15, Génétique Moléculaire et Génétique Epidémiologique, Etablissement Français du Sang-Bretagne, Université de Bretagne Occidentale, Centre Hospitalier Universitaire, 46 rue Félix Le Dantec, 29275 Brest, France.

PMID: 11708864
DOI: 10.1006/mgme.2001.3246

Abstract

Over the past 5 years, several gain-of-function missense mutations in the human cationic trypsinogen gene (PRSS1, OMIM 276000) have been associated with hereditary and/or sporadic pancreatitis. This study reports a new pancreatitis-associated mutation--R116C (CGT > TGT: c.346C > T)--in the gene.

MeSH terms

Base Sequence
DNA / chemistry
DNA / genetics
DNA Mutational Analysis
Humans
Mutation, Missense
Pancreatitis / genetics*
Trypsin*
Trypsinogen / genetics*

Substances

Trypsinogen
DNA
PRSS1 protein, human
Trypsin