SPINK1 - N34S Mutation in Pancreatitis
The serine protease inhibitor Kazal type 1 (SPINK1; PST1) is a pancreatic secretory trypsin inhibitor. Since ~20% of the capacity of total potential trypsin activity in the pancreas can be inactivated by the available SPINK1 gene products, SPINK1 is thought to play a major role as a first line defense in protecting the pancreas from premature trypsin activation.
Detection of a hereditary mutation that influences pancreatitis. The test is done on peripheral blood specimens for confirmation of clinical diagnosis, carrier status or pre-symptomatic testing.
PCR amplification and Sanger sequencing of regions with known hotspots.
SPINK1 c.221A>G; N34S
Peripheral blood collected in EDTA (purple top) is preferred, 3-10mL.
Within 1-3 weeks of receipt
Shipment Must Include
- Witt, H. et al, 2000, Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis, Nature genetics (25), p. 213-216.
- Pfützer, R. et al, 2000, SPINK1/PST1 Polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis, Gastroenterology (119), p. 615-623.