title: [Polymorphism of nucleotide sequences of human genomic DNA linked to a mucoviscidosis locus].
abstract: Polymorphism in the restriction fragments length of human DNA sequences linked to mucoviscidosis locus was studied in the healthy control group and in the families affected by mucoviscidosis. The plasmid clones metH, pJ3.11,XV-2c and pKM.19 were used as hybridization probes. The allelic frequencies of the polymorphic loci were determined for total population and for affected families. The linkage disequilibrium between the disease locus and linked polymorphic loci detectable with XV-2c (TaqI endonuclease) and pKM.19 (PstI endonuclease) was demonstrated. The high informational value of DNA-diagnosis of mucoviscidosis in the family studies with the use of four DNA probes combination has been demonstrated.
authors.forename: O V
authors.initials: OV
authors.lastname: Voronina
authors.forename: V S
authors.initials: VS
authors.lastname: Baranov
authors.forename: V S
authors.initials: VS
authors.lastname: Gaĭtskhoki
authors.forename: V N
authors.initials: VN
authors.lastname: Gorbunova
authors.forename: T E
authors.initials: TE
authors.lastname: Ivashchenko
authors.forename: A L
authors.initials: AL
authors.lastname: Shvartsman
mesh_terms: D003550:Cystic Fibrosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D008040:Genetic Linkage; D005819:Genetic Markers; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA
vernacular_title: Polimorfizm nukleotidnykh posledovatel'nosteĭ genomnoĭ DNK cheloveka, stseplennykh s lokusom mukovistsidoza.