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New mutations in hereditary pancreatitis

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Two new mutations in gene PRSS1, which causes hereditary pancreatitis, have been reported. This autosomal dominant condition, associated with recurring bouts of acute pancreatitis, developing chronic pancreatitis, and a high incidence of pancreatic cancer, is usually caused by mutations R122H and N29I in the cationic trypsinogen PRSS1 gene.

By sequencing the gene in the index case in families without these mutations with sequential AflIII restriction endonuclease digestion (of exon 3, then exon 2, then exon 1, 3, 4, 5 if any of the preceding exons were negative) and new codon 29 RFLP analysis with Bst4CI, Pfützer et al discovered a mutation resulting in an amino acid substitution R122C in one family and an amino acid substitution N29T in another, unrelated, family. Each mutation showed autosomal dominant segregation within the family.

Neither new mutation was found in 58 patients with hereditary pancreatitis who did not have R122H or N29I mutation, 66 patients with familial or idiopathic pancreatitis, or 130 healthy controls.

AflIII digestion did not detect R122C mutation, Bst4CI digestion did detect N29T mutation, so non-standard techniques are needed to identify these new mutations.


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