OBJECTIVES: Establish linkage in families with hereditary pancreatitis between the phenotype and a chromosomal locus (loci) that contains the responsible gene.
PROTOCOL OUTLINE: This is a genetics study. Blood samples are collected from patients and family members. DNA is extracted from the blood and used for genotypic analysis and linkage analysis. Patients do not necessarily receive the results of the genetic testing and the results do not influence the type or duration of treatment.
Eligibility & Criteria
Genders Eligible for Study: Both Criteria Diagnosis of hereditary pancreatitis with confirmation of phenotype by: Onset of pain before age 20 Amylase elevation at least 2 times normal Surgical or postmortem confirmation of pancreatitis Unequivocal evidence of pancreatic exocrine insufficiency in the absence of trauma, alcohol abuse, elevated serum lipids, or other known causes Family member of a patient diagnosed with hereditary pancreatitis
Contact Details David C. Whitcomb, Study Chair, University of Pittsburgh
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