Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Erbliche Pankreaserkrankungen
PRSS1
SPINK1

Referenzen:

1.

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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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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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25.

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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26.

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

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27.

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

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28.

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

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29.

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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30.

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

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31.

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

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32.

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

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