Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pancreatic secretory trypsin inhibitor

The SPINK1 gene encodes a trypsin inhibitor that prevents premature trypsin activation in the ductus pancreaticus. Mutations cause autosomal recessive or dominant pancreatitis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hereditary pancreatic disease
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
PRSS1
SPINK1

References:

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 [^]
19.

Wikipedia article

Wikipedia EN (SPINK1) [^]
Update: April 29, 2019