[Contribution of molecular biology to the prevention of cystic fibrosis. Experience in Lyon].
Enzymatic prenatal diagnosis of cystic fibrosis was performed in 113 amniotic fluids and DNA polymorphism was studied in 104 families, including 28 cases with prenatal material analysis. According to the results, the enzymatic diagnosis should be cautiously interpreted when the risk is less than 1/4. In these situations DNA analysis in the parents is very helpful to assess the reliability of enzymatic diagnosis.
Guibaud
P
P
Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon.
Auvinet
M
M
Bozon
D
D
Maire
I
I
Chambon
V
V
Chevallier
F
F
Mathieu
M
M
André
J
J
Cordier-Alex
M P
MP
Chazalette
J P
JP
D000653:Amniotic Fluid / Q000201:enzymology; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D015342:DNA Probes; D006239:Haplotypes; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D012306:Risk
D015342:DNA Probes
Apport de la biologie moléculaire à la prévention génétique de la mucoviscidose. A propos de l'expérience lyonnaise.