Molecular basis of inherited antithrombin deficiency in portuguese families: Identification of genetic alterations and screening for additional thrombotic risk factors

American Journal of Hematology

Volumn 76, Issue 2, 2004, Pages 163-171

  David, Dezsö ^a   Ribeiro, Sofia ^a   Ferrão, Lénia ^a   Gago, Teresa ^b   Crespo, Francisco ^b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SANTA CRUZ   (Portugal)

Author keywords

Antithrombin; Factor V Leiden; Hereditary thrombotic risk factors; Mutations; PAI 1 4G 5G; Venous thromboembolism

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR 5 LEIDEN;

AMINO ACID SEQUENCE; ANTITHROMBIN DEFICIENCY; ARTICLE; CLINICAL ARTICLE; EXON; FAMILY STUDY; GENE INSERTION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PORTUGAL; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; ANTITHROMBINS; BASE SEQUENCE; DNA PRIMERS; FAMILY; HUMANS; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL; RISK FACTORS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; THROMBOSIS;

EID: 2542572621     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20067     Document Type: Article

References (32)

1. Bayston TA, Lane DA. Antithrombin: molecular basis of deficiency. Thromb Haemost 1997;78:339-343.
2. Jin L, Abrahams JP, Skinner R, Petitou M, Pike RN, Carrell RW. The anticoagulant activation of antithrombin by heparin. Proc Natl Acad Sci U S A 1997;94:14683-14688.
3. Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 1993;32:4216-4224.
4. Harper PL, Luddington RJ, Daly M, et al. The incidence of dysfunctional antithrombin variants: four cases in 210 patients with thromboembolic disease. Br J Haematol 1991;77:360-364.
5. van Boven HH, Reitsma PH, Rosendaal FR, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996;75:417-421.
6. David D, Moreira I, Lalloz MRA, et al. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul Fibrinolysis 1994;5:257-264.
7. Grundy CB, Thomas F, Millar DS, et al. Recurrent deletion in the human antithrombin III gene. Blood 1991;78:1027-1032.
8. Jochmans K, Lissens W, Vervoort R, Peeters S, De Waele M, Liebaers I. Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. Blood 1994;83:146-151.
9. Bunge S, Fuchs S, Gal A. Simple and non-isotopic methods to detect unknown gene mutations in nucleic acids. In: Adolph KW, editor. Methods in molecular genetics. San Diego: Academic Press; 1995. p 26-39.
10. Le Paslier D, Rochu D, Lucotte G. PstI polymorphism of the antithrombin III gene in a French population. Vox Sang 1985;49:168-170.
11. Daly ME, Perry DJ. DdeI polymorphism in intron 5 of the ATIII gene. Nucleic Acids Res 1990;18:5583.
12. 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.
13. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703.
14. Dawson SJ, Wiman B, Hamsten A, Green F, Humphries S, Henney AM. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J Biol Chem 1993;268:10739-10745.
15. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-113.
16. Moreira I, Gago T, Crespo F, David D. Multiplex PCR-SSCP screening of potential genetic risk factors in a group of Portuguese patients with venous thrombosis. Haemostasis 2000;30(Suppl 1):123 (abstr 106).
17. Carrell RW, Stein PE, Fermi G, Wardell MR. Biological implications of a 3 Å structure of dimeric antithrombin. Structure 1994;2:257-270.
18. den Dunnen JT, Antonarkis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mut 2000;15:7-12.
19. Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90:41-54.
20. Araújo F, Santos A, Araújo V, et al. Genetic risk factors in acute coronary disease. Haemostasis 1999;29:212-218.
21. Katsumi A, Senda T, Yamashita Y, et al. Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. Blood 1996;87:4164-4175.
22. Brodbeck RM, Brown JL. Secretion of α-1 proteinase inhibitor requires an almost full-length molecule. J Biol Chem 1992;267:294-297.
23. Krawczack M, Cooper DN. Gene deletions causing human genetic disease: mechanisms of mutagenesis and role of the local DNA sequence environment. Hum Genet 1991;86:425-441.
24. Erdjument H, Lane DA, Panico M, Di Marzo V, Morris HR. Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow. J Biol Chem 1988;263:5589-5593.
25. Erdjument H, Lane DA, Ireland H, et al. Formation of a covalent disulfide-linked antithrombin-albumin complex by an antithrombin variant, antithrombin "Northwick Park". J Biol Chem 1987;262:13381-13384.
26. Stephens AW, Thalley BS, Hirs CHW. Antithrombin-III Denver, a reactive site variant. J Biol Chem 1987;262:1044-1048.
27. Nagaizumi K, Inaba H, Amano K, Suzuki M, Arai M, Fukutake K. Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. Int J Hematol 2003;78(1):79-83.
28. Jochmans K, Lissens W, Yin T, et al. Molecular basis for type I antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice mutation. Blood 1994;84:3742-3748.
29. Vicente V, Gonzalez-Conejero R, Rivera J, Corral J. The prothrombin gene variant 20210A in venous and arterial thromboembolism. Haematologica 1999;84:356-362.
30. Balta G, Altay C, Gurgey A. PAI-1 gene 4G/5G genotype: a risk factor for thrombosis in vessels of internal organs. Am J Hematol 2002;71:89-93.
31. Keijzer MB, den Heijer M, Blom HJ, et al. Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolate reductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002;88:723-728.
32. Weisberg IS, Jacques PF, Selhub J, et al. The 1298A→C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis 2001;156:409-415.