The relationship between N34S mutation of serine protease inhibitor Kazal type 1 gene and chronic pancreatitis of different types

Objective To analyze the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene among patients with chronic pancreatitis of different types,and explore the molecular mechanism of occurrence and development of chronic pancreatitis.Methods Genomic DNA was extracted from 79 patients with chronic pancreatitis and 60 healthy controls.Polymerase chain reaction (PCR) was done first to amplify part of SPINK1 gene and then restriction fragment length polymorphism (RFLP) by using TspR1 to distinguish the N34S mutation.DNA sequencing analysis was also performed to confirm the mutation status.Results N34S mutation of SPINK1 was detected in 6 patients (four cases of idiopatic pancreatitis,one case of biliary pancreatitis,and one case of alcoholic pancreatitis).No N34S mutation was found in patients with autoimmune pancreatitis and healthy controls.Conclusion The occurrence of N34S mutation of SPINK1 was statistically higher in patient with idiopathic pancreatitis,while the frequence of the SPINK1 gene mutation was less significant in patients with biliary,alcoholic and autoimmune pancreatitis.This study provides evidence for the role of N34S mutation of SPINK1 in the pathogenesis of pancreatitis. Key words: Chronic pancreatitis;  Serine protease inhibitor Kazal type 1 ;  Gene mutation