Pancreatitis in fibrocalculous pancreatic diabetes mellitus is not associated with common mutations in the trypsinogen gene

Background A distinct type of pancreatitis associated with diabetes, termed fibrocalculous pancreatic diabetes (FCPD), has been reported in tropical d eveloping countries including Bangladesh. The molecular basis for autosomal dominant hereditary pancreatitis (HP) has recently been attributed to muta tions in exons 2 and 3 of the trypsinogen gene. We have investigated the hy pothesis that mutations in the aforementioned exons of this gene might also predispose to FCPD. Methods Seventy Bangladeshi and 50 South Indian unrelated FCPD patients and seven South Indian families with FCPD probands were studied. Pancreatic ca lcification was confirmed by abdominal X-ray, ultrasound and/ or ERCP. Esta blished mutations of exons 2 and 3 of the trypsinogen gene were studied in these subjects by PCR-RFLP analysis and DNA sequencing. Results The mutations found in hereditary pancreatitis were not observed in this collection of FCPD subjects, and complete DNA sequencing of exons 2 a nd 3 of the fourth cationic trypsinogen gene also excluded any new mutation s. Conclusions These results indicate that chronic pancreatitis of FCPD is unl ikely to be caused by common mutations in the trypsinogen gene. Copyright ( C) 2000 John Wiley & Sons, Ltd.