Here I present: “Hereditary Pancreatitis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 遺傳性胰腺炎。icd10=K86. 11 (HP).
INTRODUCTION.
Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort & Steinberg.
There is evidence that chronic hereditary pancreatitis (HP) can be caused by mutation in the cationic trypsinogen gene PRSS1 and the SPINK1 gene. Furthermore, idiopathic pancreatitis has been found to be associated with mutations in the cystic fibrosis gene (CFTR). A missense variant in the PRSS2 gene confers protection against chronic pancreatitis. Variants in the chymotrypsin-C gene that diminish activity or secretion are associated with chronic hereditary pancreatitis.
The serine protease inhibitor, KAZAL type-1(SPINK1) gene is encoded on cytogenetic location 5q32 and genomic coordinates 5:147,824,582-147,839,196. The screenshot of the SPINK1 gene 14,615 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SPINK1 in the 5q32 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:146,513,144 | GPR151 | G protein -coupled receptor 151 |
| 5:146,580,742 | PPP2R2B | Protein phosphatase 2, regulatory subunit B, beta |
| 5:147,390,808 | DPYSL3 | Dihydropyrimidinase-like 3 |
| 5:147,585,438 | JAKMIP2 | Janus kinase and microtubule-interacting protein 2 |
| 5:147,824,582 | SPINK1 |
Serine protease inhibitor, KAZAL type-1 |
| 5:147,878,711 | SCGB3A2 | Secretoglobin, family 3A, member 2 |
| 5:148,063,980 | SPINK5 | Serine protease inhibitor, Kazal type, 5 |
| 5:148,202,778 | SPINK6 | Serine peptidase inhibitor, KAZAL-type, 6 |
| 5:148,268,794 | SPINK13 | Serine protease inhibitor, Kazal-type, 13 |
| 5:148,312,423 | SPINK7 | Serine peptidase inhibitor, Kazal-type, 7 |
