A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci.
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.
Magnaghi
P
P
Dipartimento di Genetica e di Biologia dei Microrganismi, Istituto Scientifico San Raffaele, Milan, Italy.
Agazzi
A
A
Semino
O
O
Ferrari
M
M
Barbui
T
T
D'Angelo
A
A
Taramelli
R
R
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
D001054:Apolipoproteins A; D010958:Plasminogen