Table 1

Distribution of mutations and polymorphisms in the PSTI gene in patients with tropical calcific pancreatitis and controls

LocationPolymorphismPatients (n=68)Controls (n=100)
hom=homozygous; het=heterozygous. Allelic status and frequencies are given in parentheses.
*The −253T>C variation was found in a normal subject heterozygous for the N34S mutation.
†Novel mutation, not previously reported.
‡Detected on all alleles with N34S.
5` UTR−253T>C*6 (6 het) (0.04)43 (42 het) (0.22)
−215G>T†3 (3 het) (0.02)0
Exon 12T>C (M1T)00
41T>C (L14P)00
Intron 1IVS1-37T>C‡31 (8 hom) (0.29)3 (3 het) (0.015)
Exon 3101A>G (N34S)31 (8 hom) (0.29)3 (3 het) (0.015)
150T>G (D50E)00
163C>T (P55S)02 (2 het) (0.015)1 (1 het) (0.005)
174C>T (C58C)00
194G>A (R65Q)00
Intron 3IVS3+2T>C00
Exon 4231G>A (G77G)00