[Cystic fibrosis: the CFTR gene, its mutations, the genetic counseling].
Cystic fibrosis is the most frequent autosomic recessively inherited disease in the European population. The gene implicated in this disease was cloned in 1989 but the consequences of the biochemical defect in the cell have not been fully elucidated. To date, 500 mutations of this 230 kilobase gene have been identified. These molecular anomalies each have an effect on the encoded protein (CFTR) an ion channel which appears to play a role in regulator functions. Results of the gene cloning and research into the different mutations have led to the development of effective strategies for molecular diagnosis facilitating genetic counselling for families at risk and the identification of atypical forms of the disease.
Goossens
M
M
Laboratoire de Biochimie et de Génétique Moléculaire, INSERM U91, Hôpital Henri-Mondor, Créteil.
Ghanem
N
N
Girodon
E
E
Costes
B
B
Fanen
P
P
D002874:Chromosome Mapping; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D005260:Female; D005817:Genetic Counseling; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
La mucoviscidose: le gène CFTR, ses mutations, le conseil génétique.