Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pancreatischer Trypsininhibitor

Das SPINK1-Gen kodiert einen pankreatischen Trypsin inhibitor der eine Vorzeitige Trypsinaktivierung bereits im Ductus pancreaticus verhindern soll. Mutationen führen zur autosomal dominanten oder rezessiven Pankreatitis.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Erbliche Pankreaserkrankungen
Ivemark-Syndrom
Renale, hepatische und pankreatische Dysplasie 1
NPHP3
Renale, hepatische und pankreatische Dysplasie 2
NEK8
PRSS1
SPINK1

Referenzen:

1.

Mohan V et. al. (1989) Familial aggregation in tropical fibrocalculous pancreatic diabetes.

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2.

Horii A et. al. (1987) Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.

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3.

Yamamoto T et. al. (1985) Molecular cloning and nucleotide sequence of human pancreatic secretory trypsin inhibitor (PSTI) cDNA.

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4.

Stenman UH et. al. (1982) Immunochemical demonstration of an ovarian cancer-associated urinary peptide.

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5.

Huhtala ML et. al. (1982) Purification and characterization of a tumor-associated trypsin inhibitor from the urine of a patient with ovarian cancer.

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6.

Mohan V et. al. (1998) Fibrocalculous pancreatic diabetes.

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7.

Chen JM et. al. (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.

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8.

Witt H et. al. (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

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9.

Kaneko K et. al. (2001) Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis.

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10.

Audrézet MP et al. (2002) Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

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11.

Chandak GR et. al. (2002) Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.

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12.

Hassan Z et. al. (2002) SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.

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13.

Kuwata K et. al. (2002) Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

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14.

Masson E et. al. (2006) Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

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15.

Király O et. al. (2007) Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.

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