Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family

Pancreatology. 2011;11(4):441-4. doi: 10.1159/000330943. Epub 2011 Sep 22.

Abstract

Background/aims: 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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asians / genetics*
  • Carrier Proteins / genetics
  • China / ethnology
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Malaysia / epidemiology
  • Male
  • Mutation*
  • Pancreatitis / ethnology
  • Pancreatitis / genetics*
  • Pedigree
  • Polymorphism, Single Nucleotide*
  • Trypsin / genetics*
  • Trypsin Inhibitor, Kazal Pancreatic
  • Young Adult

Substances

  • Carrier Proteins
  • SPINK1 protein, human
  • Trypsin Inhibitor, Kazal Pancreatic
  • PRSS1 protein, human
  • Trypsin