Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
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.
Patuzzo
Cristina
C
Department of Mother and Child, Biology and Genetics, University of Verona, Italy. cpatuzzo@univr.it
Castellani
Carlo
C
Sagramoso
Carlo
C
Gomez-Lira
Macarena
M
Bonamini
Deborah
D
Belpinati
Francesca
F
Dechecchi
Maria Cristina
MC
Assael
Baroukh Maurice
BM
Pignatti
Pier Franco
PF
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*
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