Distribution of mutations and polymorphisms in the PSTI gene in patients with tropical calcific pancreatitis and controls
| Location | Polymorphism | Patients (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>A | 0 | 0 | |
| −215G>T† | 3 (3 het) (0.02) | 0 | |
| −53C>T | 0 | 0 | |
| −41G>A | 0 | 0 | |
| −22C>T | 0 | 0 | |
| Exon 1 | 2T>C (M1T) | 0 | 0 |
| 41T>C (L14P) | 0 | 0 | |
| Intron 1 | IVS1-37T>C‡ | 31 (8 hom) (0.29) | 3 (3 het) (0.015) |
| Exon 3 | 101A>G (N34S) | 31 (8 hom) (0.29) | 3 (3 het) (0.015) |
| 150T>G (D50E) | 0 | 0 | |
| 163C>T (P55S) | 02 (2 het) (0.015) | 1 (1 het) (0.005) | |
| 174C>T (C58C) | 0 | 0 | |
| 194G>A (R65Q) | 0 | 0 | |
| Intron 3 | IVS3+2T>C | 0 | 0 |
| IVS3+125C>A | 0 | 0 | |
| IVS3+184T>A | 0 | 0 | |
| Exon 4 | 231G>A (G77G) | 0 | 0 |
| 3`-UTR | 272C>T | 0 | 0 |