title: [New polymorphic variants of the gene for human blood coagulation factor IX].
abstract: The polymorphism of Alu-repeats, which are located in the introns of the human factor IX gene (copies 1-3), was studied. To identify polymorphic variants, direct sequencing of PCR products that contained appropriate repeats was used. In each case, 20 unrelated X chromosomes were studied. A polymorphic Dra I site was found near the 3'-end of Alu copy 3 within the region of the polyA tract. A PCR-based testing system with internal control of restriction hydrolysis was suggested. Testing 81 unrelated X chromosomes revealed that the frequency of the polymorphic Dra I site is 0.23. Taq I polymorphism, which was revealed in Alu copy 4 of factor IX gene in our previous work, was found to be closely linked to Dra I polymorphism. Studies in linkage between different types of polymorphisms of the factor IX gene revealed the presence of a rare polymorphism in intron A that was located within the same minisatellite region as the known polymorphic insertion 50bp/Dde I. However, the size of the insertion in our case was 26 bp. Only one polymorphic variant was found among over 150 unrelated X chromosomes derived from humans from Moscow and its vicinity.
authors.forename: V L
authors.initials: VL
authors.lastname: Surin
authors.forename: A V
authors.initials: AV
authors.lastname: Luk'ianenko
authors.forename: A F
authors.initials: AF
authors.lastname: Tagiev
authors.forename: O V
authors.initials: OV
authors.lastname: Smirnova
authors.forename: O V
authors.initials: OV
authors.lastname: Plutalov
authors.forename: Iu A
authors.initials: IuA
authors.lastname: Berlin
mesh_terms: D001483:Base Sequence; D004276:DNA, Satellite / Q000235:genetics*; D005164:Factor IX / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D004276:DNA, Satellite; D005164:Factor IX