PMID- 10204851
OWN - NLM
STAT- MEDLINE
DCOM- 19990611
LR  - 20181113
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 3
DP  - 1999 Mar
TI  - Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity
      in hereditary pancreatitis.
PG  - 228-32
AB  - Hereditary pancreatitis (HP) is a rare inherited disorder, characterised by
      recurrent episodes of pancreatitis often beginning in early childhood. The mode
      of inheritance suggests an autosomal dominant trait with incomplete penetrance.
      The gene, or at least one of the genes, responsible for hereditary pancreatitis
      has been mapped to the long arm of chromosome 7 and a missense mutation, an
      arginine to histidine substitution at residue 117 in the trypsinogen cationic
      gene (try4) has been shown to segregate with the HP phenotype. The aim of this
      work was to investigate the molecular basis of hereditary pancreatitis. This
      study was performed on 14 HP families. The five exons of the trypsinogen cationic
      gene were studied using a specific gene amplification assay combined with
      denaturing gradient gel electrophoresis (DGGE). The present paper describes three
      novel mutations, namely K23R and N29I and a deletion -28delTCC in the promoter
      region. We also found a polymorphism in exon 4, D162D. In eight of these families
      we found a mutation which segregates with the disease. A segregation analysis
      using microsatellite markers carried out on the other families suggests genetic
      heterogeneity in at least one of them. Our findings confirm the implication of
      the cationic trypsinogen gene in HP and highlight allelic diversity associated
      with this phenotype. We also show that the pattern of inheritance of HP is
      probably complex and that other genes may be involved in this genetic disease.
FAU - Ferec, C
AU  - Ferec C
AD  - Centre de Biogenetique, University Hospital ETSBO, Brest, France.
FAU - Raguenes, O
AU  - Raguenes O
FAU - Salomon, R
AU  - Salomon R
FAU - Roche, C
AU  - Roche C
FAU - Bernard, J P
AU  - Bernard JP
FAU - Guillot, M
AU  - Guillot M
FAU - Quere, I
AU  - Quere I
FAU - Faure, C
AU  - Faure C
FAU - Mercier, B
AU  - Mercier B
FAU - Audrezet, M P
AU  - Audrezet MP
FAU - Guillausseau, P J
AU  - Guillausseau PJ
FAU - Dupont, C
AU  - Dupont C
FAU - Munnich, A
AU  - Munnich A
FAU - Bignon, J D
AU  - Bignon JD
FAU - Le Bodic, L
AU  - Le Bodic L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Cations)
RN  - 9002-08-8 (Trypsinogen)
SB  - IM
MH  - Cations
MH  - Exons
MH  - Female
MH  - Genetic Diseases, Inborn
MH  - *Genetic Heterogeneity
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Pancreatitis/*genetics
MH  - Pedigree
MH  - Trypsinogen/*genetics
PMC - PMC1734328
EDAT- 1999/04/16 00:00
MHDA- 1999/04/16 00:01
CRDT- 1999/04/16 00:00
PHST- 1999/04/16 00:00 [pubmed]
PHST- 1999/04/16 00:01 [medline]
PHST- 1999/04/16 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Mar;36(3):228-32.