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- serine protease inhibitor Kazal type 1
- pancreatic secretory trypsin inhibitor
- exon skipping
Previous studies have shown an association between chronic pancreatitis (CP) and mutations, especially the N34S mutation, in the serine protease inhibitor Kazal type 1 (SPINK1) gene.1,2 The human SPINK1 gene is approximately 7.5 kb long and consists of four exons.3 The gene product consists of 79 amino acids, including a 23 amino acid signal peptide. In exon 3, SPINK1 possesses a reactive site that serves as a specific target substrate for trypsin.4 It has been suggested that SPINK1 mutations might result in altered interaction between SPINK1 and trypsin, thus affecting the protease/antiprotease balance within the pancreas.1,2 But the underlying molecular mechanisms remain unclear. Splicing defects are estimated to account for approximately 10–15% of disease causing mutations in humans.5 Changes in the splicing patterns and in levels of normal transcripts lead to phenotypic differences. The prevalence of splicing mutations …
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