title: A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci.
abstract: Genetic studies as well as in situ hybridisation data have strongly demonstrated that the genes coding for apoprotein(a) and plasminogen are linked and localised to chromosome 6 at band 6q26-27. We describe in this report the presence of a recombination event in a region of approximately 50 kb of DNA separating the two genes. The recombination was found in an Italian family, in which a mutation affecting both plasminogen plasma level and activity of plasminogen activity has been detected. Polymerase chain reaction and sequencing analysis showed the presence of a mutation different from those previously reported in two Japanese families.
authors.affiliation: Dipartimento di Genetica e di Biologia dei Microrganismi, Istituto Scientifico San Raffaele, Milan, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Magnaghi
authors.forename: A
authors.initials: A
authors.lastname: Agazzi
authors.forename: O
authors.initials: O
authors.lastname: Semino
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: T
authors.initials: T
authors.lastname: Barbui
authors.forename: A
authors.initials: A
authors.lastname: D'Angelo
authors.forename: R
authors.initials: R
authors.lastname: Taramelli
mesh_terms: D000328:Adult; D000368:Aged; D001054:Apolipoproteins A / Q000235:genetics*; D001483:Base Sequence; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010958:Plasminogen / Q000172:deficiency / Q000235:genetics* / Q000276:immunology; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic / Q000235:genetics*; D013924:Thrombophlebitis / Q000209:etiology
chemical_list: D001054:Apolipoproteins A; D010958:Plasminogen