BACKGROUND: Mutations in the pancreatic secretory trypsin inhibitor ( PSTI) gene have been reported in patients suffering from chronic pancreatitis. The aim of the present study was to investigate whether similar gene mutations are present in familial and juvenile pancreatitis patients in Japan. METHODS: All four exons of the PSTI gene and their flanking intronic sequences were amplified by polymerase chain reaction and sequenced for 37 familial pancreatitis patients (24 families) and 15 juvenile pancreatitis patients, distributed throughout Japan. RESULTS: Three types of exonic mutation in the PSTI gene were observed. The N34S mutation was found in six familial pancreatitis patients (three families) and in one juvenile pancreatitis patient, and the R67C mutation was found in one familial pancreatitis patient and one juvenile pancreatitis patient. We also found a 272C>T mutation in the 3' untranslated region of exon 4 in one familial pancreatitis patient and four juvenile pancreatitis patients. It should be noted that the N34S mutation was cosegregated with two intronic mutations, specifically, IVS1-37T>C and IVS3-69insTTTT. CONCLUSIONS: The same set of N34S mutations (N34S + IVS1-37T>C + IVS3-69insTTTT) that exists in other countries was found in the PSTI gene in Japanese familial and juvenile pancreatitis patients. Another unique mutation (R67C) was also observed in two patients; 272C>T was suggested to be a normal polymorphism.
BACKGROUND: Mutations in the pancreatic secretory trypsin inhibitor ( PSTI) gene have been reported in patients suffering from chronic pancreatitis. The aim of the present study was to investigate whether similar gene mutations are present in familial and juvenile pancreatitispatients in Japan. METHODS: All four exons of the PSTI gene and their flanking intronic sequences were amplified by polymerase chain reaction and sequenced for 37 familial pancreatitispatients (24 families) and 15 juvenile pancreatitispatients, distributed throughout Japan. RESULTS: Three types of exonic mutation in the PSTI gene were observed. The N34S mutation was found in six familial pancreatitispatients (three families) and in one juvenile pancreatitispatient, and the R67C mutation was found in one familial pancreatitispatient and one juvenile pancreatitispatient. We also found a 272C>T mutation in the 3' untranslated region of exon 4 in one familial pancreatitispatient and four juvenile pancreatitispatients. It should be noted that the N34S mutation was cosegregated with two intronic mutations, specifically, IVS1-37T>C and IVS3-69insTTTT. CONCLUSIONS: The same set of N34S mutations (N34S + IVS1-37T>C + IVS3-69insTTTT) that exists in other countries was found in the PSTI gene in Japanese familial and juvenile pancreatitispatients. Another unique mutation (R67C) was also observed in two patients; 272C>T was suggested to be a normal polymorphism.
Authors: Eugene P Ceppa; Henry A Pitt; JoAnna L Hunter; Charles M Leys; Nicholas J Zyromski; Frederick J Rescorla; Kumar Sandrasegaran; Evan L Fogel; Lee W McHenry; James L Watkins; Stuart Sherman; Glen A Lehman Journal: J Gastrointest Surg Date: 2013-02-23 Impact factor: 3.452
Authors: Anish Kolly; C Shivaprasad; Annie A Pulikkal; Sridevi Atluri; Vijaya Sarathi; C S Dwarakanath Journal: Indian J Endocrinol Metab Date: 2017 Jul-Aug