Mutations that cause dysfuntion result in bleeding disorders, whereas a single genetic variation outside the coding region is associated with increased risk of thrombosis.
The prevalence of this mutation is about 2,5%. In the South of Europe it is twice as high as in the North. In Africa und Asia this mutation is rather rare.
The gene of Prothrombin or coagulation factor 2 (F2) is localized on chromosome 11 (11p11-q12). It is about 21kb in size and consists of 14 exons.
Patient with this mutation have a higher risk for thrombosis. These occur in atypical localizations for example in central ocular vein.
There is a mutation in the prothrombin gene G20210A that causes hypercoagulability. It is not known yet what the mechanism is.
Prothrombin also called coagulation factor II cleaves in its active form (thrombin) fibrinogen and hereby forms fibrin the final product of the coagulation process. But thrombin is not only essential for coagulation it has a function in interrupting of the coagulation process.
Patients with clinical evidence of thrombophilia. Family screening if a family member is a carrier.
The relative Risk for Thrombosis is 2-3.
Research | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | DNA-STRIP-Technology |
Turnaround | 20 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Target mutation analysis |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Sun WY et al. (2001) Gene targeting in hemostasis. Prothrombin. |
2. |
NCBI article NCBI 2147 |
3. |
OMIM.ORG article Omim 176930 |
4. |
Orphanet article Orphanet ID 121671 |
5. |
Wikipedia article Wikipedia EN (Thrombin) |