Genetic mutations in exons 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis

Journal of Gastroenterology

Volumn 36, Issue 9, 2001, Pages 612-618

  Kuwata, Kinuko ^a   Hirota, Masahiko ^a   Sugita, Hiroki ^a   Kai, Mikio ^a   Hayashi, Naoko ^a   Nakamura, Masaaki ^a   Matsuura, Toshinobu ^a   Adachi, Naoto ^a   Nishimori, Isao ^b   Ogawa, Michio ^a  

^a KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^b KOCHI MEDICAL SCHOOL   (Japan)

Author keywords

Acute pancreatitis; Chronic pancreatitis; Point mutation; PSTI; Trypsin

Indexed keywords

AMINO ACID; APROTININ; ARGININE; ASPARAGINE; CYSTEINE; SERINE;

ACUTE PANCREATITIS; ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHRONIC PANCREATITIS; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPOTHESIS; MALE; MEDICAL INFORMATION; POINT MUTATION; PRIORITY JOURNAL; VOLUNTEER;

ADOLESCENT; ADULT; AGED; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATITIS; PEDIGREE; POLYMERASE CHAIN REACTION; TRYPSIN INHIBITOR, KAZAL PANCREATIC;

EID: 0034787766     PISSN: 09441174     EISSN: None     Source Type: Journal    
DOI: 10.1007/s005350170045     Document Type: Article

References (23)

1. Biochemistry of aprotinin and aprotinin-like inhibitors
2. Isolation of a crystalline trypsin inhibitor. Anticoagulant protein from pancreas
3. Human pancreatic secretory trypsin inhibitor
4. The primary structure of the human pancreatic secretory trypsin inhibitor. Amino acid sequence of the reduced S-aminoethylated protein
5. Primary structure of human secretory trypsin inhibitor (PSTI) gene
6. The hereditary pancreatitis gene maps to long arm of chromosome 7
7. A gene for hereditary pancreatitis maps to chromosome 7q35
8. Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q
9. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene
10. Strong evidence that the N21I substitution in the cationic trypsinogen gene causes disease in hereditary pancreatitis
11. Analysis of the hereditary pancreatitis-associated cationic trypsinogen gene mutations in exons 2 and 3 by enzymatic mutation detection from a single 2.2-kb polymerase chain reaction product
12. Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
13. A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis
14. Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation
15. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis
16. Mutations in exon 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis
17. Heterogeneity in hereditary pancreatitis
18. Pancreatic secretory enzymes
19. The multiplicity of human pancreatic secretory trypsin inhibitor
20. SPINK/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis
21. A new hereditary pancreatitis gene may map to chromosome 12
22. Mutations in encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
23. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis