title: [Experience with rapid molecular genetic diagnosis using the polymerase chain reaction].
abstract: The authors give an account of their experience with 1000 amplifications of DNA by the polymerase chain reaction for the prenatal diagnosis of cystic fibrosis. The method is demonstrated on examples of examinations of the informativity value and prenatal diagnosis in the first trimester of pregnancy in families with a 25% risk of cystic fibrosis, using J 3.11 (Msp I), met H (Msp I), KM 19 (Pst I), CS 7 (Hha I), Mp6d9 (Msp I), XV 2c (Taq I) probes. The authors summarize methodical check-up and safety measures to ensure the reliability of diagnoses made by the PCR method.
authors.affiliation: Oddĕlení klinické biochemie fakulty vseobecného lékarství Univerzity Karlovy, Praha.
authors.forename: M
authors.initials: M
authors.lastname: Macek
authors.forename: I
authors.initials: I
authors.lastname: Böhm
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: J
authors.initials: J
authors.lastname: Schmidtke
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D021141:Nucleic Acid Amplification Techniques; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis
vernacular_title: Zkusenosti s metodou rychlé molekulárnĕ genetické diagnostiky polymerázovou retĕzovou reakcí.