J. Feingold et M. Guilloud-bataille, Genetic comparisons of patients with cystic fibrosis with or without meconium ileus, ANN GENET, 42(3), 1999, pp. 147-150
Cystic fibrosis (CF) is an autosomal disorder caused by mutations in the cy
stic fibrosis transmembrane conductance regulator gene (CFTR), Neonatal mec
onium ileus (MI) occurs in 10-20 percent of newborns with CF. The purpose o
f this study was to determine the allelic frequencies of the CF mutation in
French patients with and without MI and the incidence of MI in 7 homozygot
es or compound heterozygotes for mutation of the CFTR gene. Our study confi
rms the positive association between Delta F508, the most frequent CF mutat
ion, G542X mutation and MI and a negative association with G551D.