P. Magnaghi et al., A RECOMBINATION EVENT IN THE CLOSELY LINKED PLASMINOGEN AND APOLIPOPROTEIN(A) GENE LOCI, Clinical genetics, 47(6), 1995, pp. 285-289
Genetic studies as well as in situ hybridisation data have strongly de
monstrated 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 appro
ximately 50 kb of DNA separating the two genes. The recombination was
found in an Italian family, in which a mutation affecting both plasmin
ogen plasma level and activity of plasminogen activity has been detect
ed. Polymerase chain reaction and sequencing analysis showed the prese
nce of a mutation different from those previouly reported in two Japan
ese families.