Interaction between a novel intronic IVS3+ 172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family
Document Type
Article
Publication Date
1-1-2011
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.
Keywords
Hereditary pancreatitis, Mutations, PRSSI gene, variants SPINKI gene
Publication Title
Pancreatology
Divisions
fac_med
Volume
11
Issue
4
Additional Information
Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA