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

Chua, K.H.; Puah, S.M.; Chew, C.H.; Wong, C.H.; Goh, K.L. (2011) Interaction between a novel intronic IVS3+ 172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family. Pancreatology, 11 (4). pp. 441-444. ISSN 1424-3903

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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.

Item Type: Article
Creators:
  1. Chua, K.H.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSI)
  2. Puah, S.M.
  3. Chew, C.H.
  4. Wong, C.H.
  5. Goh, K.L.
Journal or Publication Title: Pancreatology
Additional Information: Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
Uncontrolled Keywords: Hereditary pancreatitis, Mutations, PRSSI gene, variants SPINKI gene
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms azrahani halim
Date Deposited: 10 Dec 2012 09:17
Last Modified: 10 Dec 2012 09:17
URI: http://eprints.um.edu.my/id/eprint/3830

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