[Frequency of @entity5174 gene mutations in XXXX ].

@entity1 @entity72520 @entity788 @entity5174 @entity1689 @entity51421 @entity1577
The prevalence of mutations in the @entity5174 ( @entity5174 ) gene in @entity1689 has been shown to be increased. The aim of this study was to prospectively analyze the frequency of such mutations in a homogeneous group of @entity1 with @entity788 studied in a French Gastroenterology department. @entity1 AND METHODS: Between April 1999 and December 2001, all @entity1 with unexplained chronic or recurrent acute @entity788 were studied. Other causes of @entity788 were excluded and no @entity1 had personal signs or family history compatible with @entity1577 . Following informed written consent, genetic analysis for @entity5174 was performed using an oligonucleotid ligation assay, on the 31 most frequently known mutations of the @entity5174 gene. A complementary analysis for variants in exons 9, 10 and 17a, thought to be implicated in atypical @entity1577 , was also performed using denaturing gradient gel electrophoresis. RESULTS: @entity788 occurred in 64 @entity1 (chronic, n=30; recurrent acute, n=34) with a median age of 36 years. Eighteen @entity5174 mutations or variants were detected in 16 @entity1 (25%): DeltaF508 (n=7), @entity51421 (n=2), @entity72520 (n=4), 5T (n=5). Two @entity1 were compound heterozygous. The frequency of DeltaF508 mutations was greater than that of the general population (10.9 vs 2.4%; P<0.001). @entity788 was diagnosed at a median age of 32 years in mutation-positive @entity1 compared to 39 in mutation-negative @entity1 . The prevalence of @entity5174 mutations was 35.5% in @entity1 < or =35 years against 15.1% in those > 35 years (P=0.06). The clinical course of @entity788 (severity and complication rates) was not altered by the presence of a mutation. CONCLUSION: One-quarter of all @entity1 and one-third of those < or =35 years with @entity788 have at least one mutation of the @entity5174 gene. The presence of a @entity5174 mutation appears to predict the development of @entity788 at an earlier age.
