Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Trypsin-1

Das PRSS1-Gen kodiert ein Trypsinogen, welches vom Pankreas in das Duodenum sezerniert und dort aktiviert wird. Mutationen sind für die autosomal dominante hereditäre Pankreatitis verantwortlich.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Erbliche Pankreaserkrankungen
Ivemark-Syndrom
Renale, hepatische und pankreatische Dysplasie 1
NPHP3
Renale, hepatische und pankreatische Dysplasie 2
NEK8
PRSS1
SPINK1

Referenzen:

1.

None (1967) Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general?

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2.

Szmola R et al. (2010) Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

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3.

Chauvin A et al. (2009) Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

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4.

Kereszturi E et al. (2009) Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.

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5.

Felderbauer P et al. (2008) A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.

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6.

Masson E et al. (2008) Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.

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7.

Le Maréchal C et al. (2006) Hereditary pancreatitis caused by triplication of the trypsinogen locus.

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8.

Teich N et al. (2006) Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

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9.

Teich N et al. (2005) Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.

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10.

Teich N et al. (2004) Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

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11.

Chen JM et al. (2003) "Loss of function" mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis.

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12.

Simon P et al. (2002) Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis.

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13.

Teich N et al. (2002) Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.

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14.

Chen JM et al. (2001) Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.

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15.

Sahin-Tóth M et al. (2000) Gain-of-function mutations associated with hereditary pancreatitis enhance autoactivation of human cationic trypsinogen.

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16.

Chen JM et al. (2000) A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.

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17.

Chen JM et al. (2000) Molecular basis of hereditary pancreatitis.

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18.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

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19.

Rowen L et al. (1996) The complete 685-kilobase DNA sequence of the human beta T cell receptor locus.

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20.

Whitcomb DC et al. (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

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21.

Gorry MC et al. (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.

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22.

Férec C et al. (1999) Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.

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23.

Tani T et al. (1990) Nucleotide sequence of the human pancreatic trypsinogen III cDNA.

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24.

Emi M et al. (1986) Cloning, characterization and nucleotide sequences of two cDNAs encoding human pancreatic trypsinogens.

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25.

Honey NK et al. (1984) Chromosomal assignments of human genes for serine proteases trypsin, chymotrypsin B, and elastase.

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26.

Honey NK et al. (1984) Chromosomal assignments of genes for trypsin, chymotrypsin B, and elastase in mouse.

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27.

Rinderknecht H et al. (1984) Mesotrypsin: a new inhibitor-resistant protease from a zymogen in human pancreatic tissue and fluid.

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28.

MacDonald RJ et al. (1982) Two similar but nonallelic rat pancreatic trypsinogens. Nucleotide sequences of the cloned cDNAs.

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29.

Scheele G et al. (1981) Characterization of human exocrine pancreatic proteins by two-dimensional isoelectric focusing/sodium dodecyl sulfate gel electrophoresis.

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30.

Wiegand U et al. (1993) Cloning of the cDNA encoding human brain trypsinogen and characterization of its product.

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31.

Sahin-Tóth M et al. (1999) Trypsinogen stabilization by mutation Arg117-->His: a unifying pathomechanism for hereditary pancreatitis?

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32.

Chen JM et al. (2000) Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene.

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33.

NCBI article

NCBI 5644 external link
34.

OMIM.ORG article

Omim 276000 external link
35.

Orphanet article

Orphanet ID 118080 external link
Update: 14. August 2020
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