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A recombination event in the closely linked plasminogen and apolipoprotein(a) gene loci
Author(s) -
Magnaghi Paola,
Agazzi Alberto,
Semino Ornella,
Ferrari Maurizio,
Barbui Tiziano,
D'Angelo Armando,
Taramelli Roberto
Publication year - 1995
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1995.tb03966.x
Subject(s) - genetics , gene , recombination , biology , apolipoprotein b , event (particle physics) , cholesterol , endocrinology , physics , quantum mechanics
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 previouly reported in two Japanese families.