Genetic comparisons of patients with cystic fibrosis with or without meconium ileus. Clinical Centers of the French CF Registry.
Cystic fibrosis (CF) is an autosomal disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). Neonatal meconium ileus (MI) occurs in 10-20 percent of newborns with CF. The purpose of 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 homozygotes or compound heterozygotes for mutation of the CFTR gene. Our study confirms the positive association between delta F508, the most frequent CF mutation, G542X mutation and MI and a negative association with G551D.
Feingold
J
J
Unité de Recherches d'Epidémiologie génétique, INSERM U155, Université Paris 7, France.
Guilloud-Bataille
M
M
D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005602:France / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000453:epidemiology / Q000235:genetics*; D008470:Meconium; D009154:Mutation; D012042:Registries; D012189:Retrospective Studies; D012307:Risk Factors
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator