Genetic comparisons of patients with cystic fibrosis with or without meconium ileus

Citation
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
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
3
Year of publication
1999
Pages
147 - 150
Database
ISI
SICI code
0003-3995(1999)42:3<147:GCOPWC>2.0.ZU;2-J
Abstract
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.