J Med Genet 2000;37:67-69 ( January )

Letters to the editor

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis

The first 150 words of the full text of this article appear below.

EDITORHereditary pancreatitis (HP) is an autosomal dominant disease with about 80% penetrance that mainly afflicts white families.¹ Although pancreatitis was hypothesised to result from inappropriate activation of pancreatic zymogens by Chiara² in 1896, and the genetic nature of HP was identified by Comfort et al³ in 1952, the precise mechanism underlying the pathogenesis of HP has remained a mystery until recently. By familial linkage analysis, a genetic defect was mapped to chromosome 7q35 by Le Bodic et al,⁴ and independently confirmed by two other groups in 1996.^5 6 Soon after, a single G to A mutation resulting in an arginine (R) to histidine (H) substitution (R117H) in the third exon of the cationic trypsinogen gene was identified as being associated with HP by Whitcomb et al.⁷

Trypsinogen is synthesised in the acinar cells of the pancreas and is activated into trypsin upon cleavage of the activation peptide by enterokinase. . . . [Full text of this article]

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