title: Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
abstract: Neonatal hypertrypsinaemia with normal sweat chloride detected during CF screening may be related to trypsin activation. We have looked for mutations of the cationic trypsinogen (PRSS1) and pancreatic secretory trypsin inhibitor (PSTI) genes in 50 hypertrypsinaemic neonates with known CFTR genotypes and negative sweat test. No mutations were found in either gene. Two silent polymorphisms were detected in the PRSS1 gene. A polymorphism in the promoter region and an intronic polymorphism of the PSTI gene were found. No difference was observed in the frequency of PRSS1 or PSTI polymorphisms in neonates carrying or not carrying CF mutations. These results do not provide an indication for an increased frequency of mutations in the PRSS1 and PSTI genes in this group of neonates with transient hypertrypsinaemia.
authors.affiliation: Department of Mother and Child, Biology and Genetics, University of Verona, Italy. cpatuzzo@univr.it
authors.forename: Cristina
authors.initials: C
authors.lastname: Patuzzo
authors.forename: Carlo
authors.initials: C
authors.lastname: Castellani
authors.forename: Carlo
authors.initials: C
authors.lastname: Sagramoso
authors.forename: Macarena
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: Deborah
authors.initials: D
authors.lastname: Bonamini
authors.forename: Francesca
authors.initials: F
authors.lastname: Belpinati
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Dechecchi
authors.forename: Baroukh Maurice
authors.initials: BM
authors.lastname: Assael
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D002352:Carrier Proteins; D002412:Cations; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007558:Italy; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D011110:Polymorphism, Genetic; D013542:Sweat / Q000502:physiology; D014357:Trypsin / Q000097:blood*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics*
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; D002412:Cations; D006133:Growth Substances; D036341:Intercellular Signaling Peptides and Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin