title: Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis.
abstract: Several genetic mutations have been reported to increase susceptibility to chronic pancreatitis. However, their roles in alcoholic chronic pancreatitis are controversial. We investigated the prevalence of SPINK1 N34S and new CFTR Q1352H mutations in alcoholic chronic pancreatitis in Korea. Forty-three patients with alcoholic chronic pancreatitis were enrolled and 35 healthy individuals served as controls. The SPINK1 N34S mutation was detected by the PCR-RFLP technique. The CFTR Q1352H mutation was examined with PCR direct sequencing. Mean age of chronic pancreatitis and control groups was 53.2 and 51.3 years, respectively. A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient. In the control population, neither SPINK1 nor CFTR mutation was detected. This study shows that SPINK1 N34S and CFTR Q1352H mutations are uncommon and do not play an important role in chronic alcoholic pancreatitis in Korea.
authors.affiliation: Department of Internal Medicine, Seoul National University College of Medicine, Liver Research Institute, Seoul, Korea.
authors.forename: Kwang Hyuck
authors.initials: KH
authors.lastname: Lee
authors.forename: Ji Kon
authors.initials: JK
authors.lastname: Ryu
authors.forename: Won Jae
authors.initials: WJ
authors.lastname: Yoon
authors.forename: Jun Kyu
authors.initials: JK
authors.lastname: Lee
authors.forename: Yong-Tae
authors.initials: YT
authors.lastname: Kim
authors.forename: Yong Bum
authors.initials: YB
authors.lastname: Yoon
mesh_terms: D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D019512:Pancreatitis, Alcoholic / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic