A patient homozygous for a mutation in the prothrombin gene 3'- untranslated region associated with massive thrombosis

Blood Coagulation and Fibrinolysis

Volumn 8, Issue 5, 1997, Pages 316-319

  Howard, T E ^a   Marusa, M ^a   Channell, C ^a   Duncan, A ^a  

^a EMORY UNIVERSITY HOSPITAL   (United States)

Author keywords

3' UTR; Activated protein C resistance; Factor II; Genetic polymorphism; Prothrombin gene; Thrombosis

Indexed keywords

ACTIVATED PROTEIN C; PROTHROMBIN;

ADULT; ARTICLE; CASE REPORT; GENETIC POLYMORPHISM; HUMAN; MALE; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; THROMBOPHILIA; THROMBOSIS;

EID: 0030789617     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199707000-00010     Document Type: Article

References (19)

1. Miletich JP, Prescott SM, White R, Majerus PW, Bovill EG. Inherited predisposition to thrombosis. Cell 1993; 72: 477-480.
2. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. Thromb Haemostasis 1995; 73: 876-879.
3. Reitsma PH, Ploos van Amstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 468-472.
4. Lane DA, Olds RJ, Thein SL. Antithrombin III. Summary of first database update. Nucleic Acids Res 1994; 22: 3556-3559.
5. Javerkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Thromb Haemostasis 1995; 73: 151-161.
6. De Stefano V, Finazzi G, Mannuci PM. Inherited thrombophilia: pathogenesis, clinical syndromes and management. Blood 1996; 87: 3531-3544.
7. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-1008.
8. Koster T, Rosendall FR, de Ronde H, Briet E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C. Leiden Thrombophilia Study. Lancet 1993; 342: 1503-1506.
9. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
10. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3́-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-3703.
11. Ohlin AK, Marlar RA. The first mutation identified in the thrombomodulin gene in a 45-year old man presenting with thromboembolic disease. Blood 1995; 85: 330-336.
12. Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84: 1031-1035.
13. Koeleman BPC, van Rumpt D, Hamulyak K, Reitsma PH, Bertina RM. Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families? Thromb Haemostasis 1995; 74: 580-583.
14. Zoller B, Berntsdotter A, Garcia de Frutos P, Dahlback B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-3523.
15. Jackson CM. Physiology and biochemistry of prothrombin. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Haemostasis and Thrombosis. Edinburgh: Churchill Livingstone; 1994, 397.
16. Bertina RM, van Tilburg NH, de Fouw NJ, Haverkate F. Thrombin, a link between coagulation activation and fibrinolysis. Ann NY Acad Sci 1992; 667: 239-248.
17. Dang QD, Vindigni A, di Cera E. An allosteric switch controls the procoagulant and anticoagulant activities of thrombin. Proc Natl Acad Sci USA 1995; 92: 5977-5981.
18. Degen SJF, Davie EW. Nucleotide sequence of the gene for human prothrombin. Biochemistry 1987; 26: 6165-6177.
19. Ridker PM, Miletich JP, Hennekens CH, Buring JE. Ethnic distribution of factor V Leiden in 4047 men and women. JAMA 1997; 277: 1305-1307.