Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The SPINK1 gene encodes a trypsin inhibitor that prevents premature trypsin activation in the ductus pancreaticus. Mutations cause autosomal recessive or dominant pancreatitis.
| 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 |
Hereditary pancreatic disease
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Ivemark syndrome
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Renal-hepatic-pancreatic dysplasia 1
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NPHP3
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Renal-hepatic-pancreatic dysplasia 2
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NEK8
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PRSS1
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SPINK1
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| 1. |
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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| 2. |
Masson E et al. (2006) Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
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| 3. |
Kuwata K et al. (2002) Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.
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| 4. |
Hassan Z et al. (2002) SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.
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| 5. |
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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| 6. |
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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| 7. |
Mohan V et al. (1998) Fibrocalculous pancreatic diabetes.
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| 8. |
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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| 9. |
Stenman UH et al. (1982) Immunochemical demonstration of an ovarian cancer-associated urinary peptide.
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| 10. |
Yamamoto T et al. (1985) Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA.
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| 11. |
Horii A et al. (1987) Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.
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| 12. |
Mohan V et al. (1989) Familial aggregation in tropical fibrocalculous pancreatic diabetes.
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| 13. |
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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| 14. |
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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| 15. |
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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| 16. |
Orphanet article Orphanet ID 119834
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| 17. |
NCBI article NCBI 6690
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| 18. |
OMIM.ORG article Omim 167790
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| 19. |
Wikipedia article Wikipedia EN (SPINK1)
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