Mutations of SPINK1 and PRSS1 Gene in Korean Patients with Chronic Pancreatitis.
- Author:
Kwang Hyuck LEE
1
;
Won Jae YOON
;
Ji Kon RYU
;
Yong Tae KIM
;
Yong Bum YOON
;
Chung Yong KIM
Author Information
1. Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea. jkryu@snu.ac.kr
- Publication Type:Original Article ; English Abstract
- Keywords:
Cationic trypsinogen Gene;
SPINK1 Gene;
Pancreatitis;
Chronic idiopathic;
Pancreatitis;
alcohol
- MeSH:
Carrier Proteins/*genetics;
English Abstract;
Female;
Genetic Predisposition to Disease;
Humans;
Male;
Middle Aged;
*Mutation;
Pancreatitis/*genetics;
Pancreatitis, Alcoholic/genetics;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Trypsin/*genetics;
Trypsinogen/*genetics
- From:The Korean Journal of Gastroenterology
2004;44(2):93-98
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
BACKGROUND/AIMS: It has been found that mutations of cationic trypsinogen gene (PRSS1) and serine protease inhibitor, Kazal type 1 gene (SPINK1) increase the susceptibility of chronic pancreatitis (CP). Specifically, mutations in the PRSS1 gene are related to the occurrences of hereditary and idiopathic pancreatitis while SPINK1 mutations are known to act as a disease modifier and are associated with idiopathic CP. However, the association of SPINK1 mutations with alcoholic CP is still controversial. We investigated the prevalence of PRSS1 and SPINK1 mutations in idiopathic and alcoholic CP in Korea. METHODS: Seventy-one Korean patients with CP (alcoholic: 47, idiopathic: 22 and familial: 2) and 19 controls were included in this studies. Genomic DNA was extracted from peripheral blood of the patients. Mutations of SPINK1 (exon 3: N34S) and PRSS1 (exon 2: N29I, exon 3: R122H) genes were detected by PCR-RFLP methods. For the detection of SPINK1 mutation, restriction endonuclease PstI and BsrDI were used, while Sau3A and AflIII were used for the defection of PRSS1 mutation. RESUTLS: Only one patient (2.1%) with alcoholic CP was a heterozygote for SPINK1 (N34S) mutation. Mutation in the PRSS1 (N29I, R122H) gene was not found in any group of CP patients. Additionally, we could not find any mutations of SPINK1 or PRSS1 in the control group. CONCLUSIONS: SPINK1 and PRSS1 mutations are not related to the development of CP in Korea.
