title: Mutation analysis of PRSS1, SPINK1 and CFTR gene in patients with alcoholic and idiopathic chronic pancreatitis: A single center study.
abstract: OBJECTIVE
  A relation between some genetic mutations and chronic pancreatitis (CP) has been reported. However, the relation of genetic mutation to alcoholic CP (ACP) and idiopathic CP (ICP) still remains controversial. In this study, we investigated the prevalence of protease serine 1 (PRSS1), serine protease inhibitor, Kazal type 1 (SPINK1) SPINK1 and cystic fibrosis transmembrane conductance regulator (CFTR) mutations in ACP and ICP patients in Turkey.
  
  
  METHODS
  Forty-one patients with ACP and 38 patients with ICP were enrolled, and 35 healthy individuals served as controls. The PRSS1 and SPINK1 mutations were investigated by the polymerase chain reaction (PCR)-restriction fragment-length polymorphism (RFLP) technique. The CFTR mutation was examined with PCR direct sequencing.
  
  
  RESULTS
  The mean ages of the ACP, ICP and healthy control groups were 53.2, 40.4 and 46.3 years, respectively. A CFTR F508 mutation was detected as a heterozygote in one (2.4%) patient with ACP. In the ICP and control populations, PRSS1, SPINK1 and CFTR mutations were not detected.
  
  
  CONCLUSIONS
  This study shows that PRSS1, SPINK1 and CFTR mutations do not play a role in ACP and ICP patients.
authors.affiliation: Department of Gastroenterology, İstanbul University Cerrahpasa Medical Faculty, İstanbul, Turkey. sisman1981@hotmail.com.
authors.forename: Gürhan
authors.initials: G
authors.lastname: Şişman
authors.forename: Murat
authors.initials: M
authors.lastname: Tuğcu
authors.forename: Kerimova
authors.initials: K
authors.lastname: Ayla
authors.forename: Özdemir
authors.initials: Ö
authors.lastname: Sebati
authors.forename: Hakan
authors.initials: H
authors.lastname: Şentürk
mesh_terms: D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019512:Pancreatitis, Alcoholic / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000235:genetics*; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014421:Turkey
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin