Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Pancreatischer Trypsininhibitor

Das SPINK1-Gen kodiert einen pankreatischen Trypsin inhibitor der eine Vorzeitige Trypsinaktivierung bereits im Ductus pancreaticus verhindern soll. Mutationen führen zur autosomal dominanten oder rezessiven Pankreatitis.

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.

Chen JM et al. (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

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2.

Witt H et al. (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

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3.

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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4.

Király O et al. (2007) Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

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5.

Mohan V et al. (1989) Familial aggregation in tropical fibrocalculous pancreatic diabetes.

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6.

Horii A et al. (1987) Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.

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7.

Yamamoto T et al. (1985) Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA.

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8.

Stenman UH et al. (1982) Immunochemical demonstration of an ovarian cancer-associated urinary peptide.

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9.

Huhtala ML et al. (1982) Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer.

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10.

Mohan V et al. (1998) Fibrocalculous pancreatic diabetes.

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11.

Kaneko K et al. (2001) Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.

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12.

Chandak GR et al. (2002) Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

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13.

Hassan Z et al. (2002) SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

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14.

Kuwata K et al. (2002) Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

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15.

Masson E et al. (2006) Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

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16.

Orphanet article

Orphanet ID 119834 [^]
17.

NCBI article

NCBI 6690 [^]
18.

OMIM.ORG article

Omim 167790 [^]
Update: 9. Mai 2019