title: The rapid molecular genetic diagnosis of cystic fibrosis by polymerase chain reaction: an experience report.
abstract: The authors report their experience with about two thousand DNA amplifications by polymerase chain reaction (PCR) in prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of diagnostic informativity and prenatal diagnosis examination in a family at 1 in 4 risk of the disease using closely CF-linked diagnostic polymorphisms: J3.11/MspI, MetH/MspI, CS7/HhaI, KM19/PstI, Mp6-d9/MspI and XV2c/TaqI, PCR methodology and safety precautions are discussed.
authors.affiliation: Department of Clinical Biochemistry, 1st Faculty of Medicine, Charles University, Prague, Czechoslovakia.
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: I
authors.initials: I
authors.lastname: Boehm
authors.forename: L
authors.initials: L
authors.lastname: Arnold
authors.forename: J
authors.initials: J
authors.lastname: Smrt
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: R
authors.initials: R
authors.lastname: Duspivová
authors.forename: V
authors.initials: V
authors.lastname: Vávrová
authors.forename: Z
authors.initials: Z
authors.lastname: Sedlácek
authors.forename: K
authors.initials: K
authors.lastname: Sperling
authors.forename: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011296:Prenatal Diagnosis; D012307:Risk Factors