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  • Evidence that hereditary pancreatitis is genetically heterogenous disorder
    Ravnik-Glavač, Metka ...
    Hereditary pancreatitis (HP) is an autosomal dominant disorder characterized by recurrent acute attacks of severe abdominal pain with an onset in early childhood. Many HP patients progress to ... complicated chronic pancreatitis and/or pancreatic cancer. Initially, a single mutation R117H in the cationic trypsinogen gene was detected in all affected members of five unrelated HP families. Further studies identified a second mutation (N21L) in two HP families without the R117H mutation. Before the association between cationic trypsinogen and HP was found, we detected a cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation (L327R) in all affected individualsof a family with HP. We therefore performed a mutational analysis for R 117H and N21 L in cationic trypsinogen in this and three additional unrelated families with HP. The R117H mutation was detected in all 9 affected members of three HP families and in 3 asymptomatic but at-risk relatives. However, neither the R117H nor the N21L mutation in the cationic trypsinogen were found in the HP family with the L327R alteration in CFTR. The L327R allele segregates with the disease within this HP family and was not detected on 360 unrelated Caucasian non-CF chromosomes. Although close to 800 differentmutations have been detected in the CF gene of cystic fibrosis patients, L327R is a new alteration, not yet reported in connection with CF. The results of this study indicate that the CFTR gene may play a role in the etiology of minority of cases with HP and suggest that hereditary pancreatitisis genetically heterogeneous disease.
    Vir: Pflügers Archiv : european journal of physiology. - ISSN 0031-6768 (Letn. 439, št. 3, suppl., 2000, str. R50-R52)
    Vrsta gradiva - prispevek na konferenci
    Leto - 2000
    Jezik - angleški
    COBISS.SI-ID - 11272409

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