A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene

Figure 1 Chromatogram of DNA sequences in exon 3 of PRSS1 gene in a normal control (A) and a patient with chronic pancreatitis (B). The tracing of the patient reveals a heterozygous missense mutation, g.2441C>T or c.346 C>T, which would result in a substitution of arginine (CGT) by cysteine (TGT) at amino acid residue 116 (R116C).

Figure 2 Allele specific amplification (ASA) analysis of R116C in the HP family. In two affected (II-5 and III-2) and one unaffected (II-6) individuals, two bands (555 bp) amplified from both wild-type (C) and mutant (T) alleles are shown as heterozygous genotype, whereas only wild-type alleles (C) are present in the rest of unaffected individuals (I-1, II-1, II-3, II-4 and III-1). PCR products of 206 bp are shown as internal control in all lanes.

Figure 3 The schematic diagram of PRSS1 mutations discovered, to date, and their positions on the encoded protein. PRSS1 protein is shown with five regions, each of which encoded by a different exon, depicted with varying shaded blocks. The arrowheads represent the proteolysis cleavage sites of the protein resulting in various forms of trypsin biogenesis.