title: Prevention of cystic fibrosis in Italian families by DNA studies.
abstract: We performed a feasibility study of prenatal diagnosis in the Italian population by DNA analysis utilizing the probes: metD, metH, J3.11, KM.19 and XV-2c. With these probes, 118 out of 126 families (93.7%) were fully informative. We also tested part of the families with new additional tightly linked probes, E.9 and W3D1.4. With all the probes feasibility was complete in 44 out of 45 families (97.8%). In particular with a set of only 3 tightly linked probes, KM.19 + XV-2c + W3D1.4, 71% of the families were fully informative. We carried out 8 prenatal diagnoses, 4 of which with the polymerase chain reaction (PCR) for KM.19. These data show that these probes are highly informative and can be used for feasibility studies and prenatal diagnosis of CF in the Italian population.
authors: Istituto Scientifico H. S. Raffaele, Laboratorio Centrale, Milano, Italy.
authors: M
authors: M
authors: Ferrari
authors: L
authors: L
authors: Cremonesi
authors: L
authors: L
authors: Ruocco
authors: A
authors: A
authors: Giunta
authors: L
authors: L
authors: Curcio
authors: B
authors: B
authors: Brambati
authors: G
authors: G
authors: Cozzi
authors: S
authors: S
authors: Russo
authors: M
authors: M
authors: Seia
authors: L
authors: L
authors: Piceni Sereni
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*; D004247:DNA / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D015335:Molecular Probes; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D015335:Molecular Probes; D004247:DNA