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.
| Original language | English |
|---|---|
| Pages (from-to) | 285-289 |
| Number of pages | 5 |
| Journal | Clinical Genetics |
| Volume | 47 |
| Issue number | 6 |
| Publication status | Published - 1995 |
Keywords
- Apoprotein(a)
- Gene cluster
- Plasminogen
- Recombination
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)