Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis

Journal of Medical Genetics

Volumn 36, Issue 3, 1999, Pages 228-232

  Ferec C ^a   Raguenes O ^a   Salomon, R ^b   Roche, C ^c   Bernard, J P ^d   Guillot, M ^e   Quere I ^a   Faure, C ^f   Mercier, B ^a   Audrezet M P ^a   Guillausseau, P J ^g   Dupont, C ^h   Munnich, A ^b   Bignon, J D ⁱ   Le Bodic, L ^j  

^a BREST UNIVERSITY HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIV LILLE   (France)

^d INSERM   (France)

^e CH Bisson   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g HÔPITAL LARIBOISIÈRE   (France)

^h HÔPITAL SAINT VINCENT DE PAUL   (France)

ⁱ Lab d'Histocompatibilité   (France)

^j CHU de Nantes   (France)

more..

Author keywords

Cationic trypsinogen; Hereditary pancreatitis; Mutation analysis

Indexed keywords

DNA MARKER; MICROSATELLITE DNA; TRYPSINOGEN;

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA POLYMORPHISM; EXON; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEGREGATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MALE; PANCREATITIS; PRIORITY JOURNAL; PROMOTER REGION;

EID: 2442723724     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Perrault J. Hereditary pancreatitis. Pediatr Gastroenterol 1994;23:743-52.
2. Comfort MW, Steinberg AG. Pedigree of a family with hereditary chronic relapsing pancreatitis. Gastroenterology 1952;21:54-63.
3. Sato T, Saitoh Y. Familial chronic pancreatitis associated with pancreatic lithiasis. Am J Surg 1974;127:511-17.
4. Le Bodic L, Bignon JD, Raguénès O, et al The hereditary pancreatitis gene maps to long arm of chromosome 7. Hum Mol Genet 1996,5:549-54.
5. Whitcomb DC, Gorry MC, Preston RA, et al. Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 1996;14:141-5.
6. Gross JB, Jones JD. Hereditary pancreatitis: analysis of experience to May 1969. In: Beck IT, Sinclair DG, eds. The exocrine pancreas. London: Churchills 1971:247-70.
7. Lerman LS, Silverstein K. Computational simulation of DNA melting and its. application to denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:482-501
8. Myers RM, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:501-27.
9. Rowen L, Koop B, Hood L. The complete 685-kilobases DNA sequence of the human T cell receptor locus. Science 1996;272:1755-62.
10. Antonarakis SE. The nomenclature working group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
11. Gorry MC, Gabbaizedeh D, Furey W, et al. Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroentrology 1997;113:1063-8.
12. Férec C, Audrézet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1:188-91.
13. Laskowski MJ, Ikunoshin K. Protein inhibitors of proteinases. Annu Rev Biochem 1980;49:593-626.
14. Yamamoto T, Nakamura Y, Mishide T, et al. Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA. Biochem Biophys Res Commun 1985;132:605-12.