Magnaghi P, Agazzi A, Semino O, Ferrari M, Barbui T, D'Angelo A, Taramelli R
Dipartimento di Genetica e di Biologia dei Microrganismi, Istituto Scientifico San Raffaele, Milan, Italy.
Clin Genet. 1995 Jun;47(6):285-9. doi: 10.1111/j.1399-0004.1995.tb03966.x.
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.