title: Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.
abstract: OBJECTIVE
  Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severity of disease. HP is commonly caused by variants/mutations in the PRSS1 gene as reported in many studies. Therefore, in this study, we aimed to investigate the possible association of PRSS1 gene variants/mutations in a Malaysian Chinese family with HP.
  
  
  METHODS
  Genomic DNA of the 6 family members was extracted, amplified using polymerase chain reaction and the entire PRSS1 gene was analyzed via sequencing.
  
  
  RESULTS
  PRSS1 gene sequencing results revealed two variants/mutations in this study. The results show that all the subjects (patients) inherited an intronic SNP IVS3+172 variant, together with a p.N29I mutation except for subjects 3 and 4 who are normal.
  
  
  CONCLUSIONS
  We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with HP in this Malaysian Chinese family.
authors.affiliation: Department of Molecular Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Kek Heng
authors.initials: KH
authors.lastname: Chua
authors.forename: Suat Moi
authors.initials: SM
authors.lastname: Puah
authors.forename: Ching Hoong
authors.initials: CH
authors.lastname: Chew
authors.forename: Choon Heng
authors.initials: CH
authors.lastname: Wong
authors.forename: Khean Lee
authors.initials: KL
authors.lastname: Goh
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008296:Malaysia / Q000453:epidemiology; D008297:Male; D009154:Mutation; D010195:Pancreatitis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin