The lack of ties between north-eastern Italy and African-Americans suggest a multi-founder effect for FVII Padua (Arg304Gln) disorder

Blood Coagulation and Fibrinolysis

Volumn 21, Issue 8, 2010, Pages 775-776

  Girolami, Antonio ^a   Bonamigo, Emanuela ^b   Vettore, Silvia ^b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 7; RECOMBINANT THROMBOPLASTIN;

AFRICAN AMERICAN; AMINO ACID SUBSTITUTION; BLOOD CLOTTING FACTOR 7 DEFICIENCY; FOUNDER EFFECT; GENE MUTATION; HOMOZYGOTE; HUMAN; ITALY; LETTER; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

AFRICAN AMERICANS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; HUMANS; ITALY; MIDDLE AGED;

EID: 78349241412     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32833e42af     Document Type: Letter

References (15)

1. Kirkel D, Lin TW, Fu SW, Dlott JS, Sahud MA, McCaffrey T, Rickles FR. Asymptomatic factor VII deficiency: gene analysis and structure-function relationships. Blood Coagul Fibrinolysis 2010; 21:91-94.
2. Sabharwal AK, Kuppuswamy MN, Foster DC, Wildgoose P, Fisher L, Birktoft JJ, Bajaj SP. Factor VII deficiency (FVIIRichmond, R304Q mutant) associated with thrombosis. Circulation 1992; 86:679; (abstract).
3. Shurafa MS, Kumar A, Fair DS, James HL The moleculardefect infactorVII Detroit is due to substitution of Arg (304) by Glu. FASEB J 1993; 7:115; (abstract).
4. Pollak ES, Russell TT, Ptashkin B, Smith-Whitley K, Camire RM, Bauer KA. Asymptomatic factor VII deficiency in African Americans. Am J Clin Pathol 2006; 126:128-132.
5. Triplett DA, Brandt JT, Batard MA, Dixon JL, Fair DS. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 1985; 66:1284-1287.
6. Girolami A, Fabris F, Dal Bo Zanon R, Ghiotto G, Burul A. Factor VII Padua: a congenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern. J Lab Clin Med 1978; 91:387-395.
7. Fromovich-Amit Y, Zivelin A, Rosenberg N, Tamary H, Landau M, Seligsohn U. Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. J Thromb Haemost 2004; 2:1774-1781.
8. Peyvandi F, Jenkins PV, Mannucci PM, Billio A, Zeinali S, Perkins SJ, Perry DJ. Molecular characterisation and three-dimensional structural analysis of mutations in 21 unrelated families with inherited factor VII deficiency. Thromb Haemost 2000; 84:250-257.
9. Bernardi F, Liney DL, Patracchini P, Gemmati D, Legnani C,Arcieri P, et al. Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII. Br J Haematol1994; 86:610-618.
10. Girolami A, Sartori MT, Steffan A, Fadin MA. Recombinant thromboplastin is slightly more sensitivetofactorVII Paduathan standard thromboplastins of human origin. Blood Coagul Fibrinolysis 1993; 4:497-498.
11. James HL, Girolami A, Hubbard JG, Kumar A, Fair DS. The dysfunction of coagulation factor VIIPadua results from substitution of arginine-304 by glutamine. Biochim Biophys Acta 1993; 1172:301-305.
12. Fromovich-Amit Y, Zivelin A, Rosenberg N, Landau M, Rosa JP, Seligsohn U. Of four mutations in the factor VII gene in Tunisian patients, one novel mutation (Ser339Phe) in three unrelated families abrogates factor X activation. Blood Coagul Fibrinolysis 2005; 16:369-374.
13. Takamiya O, McVey J, Kemball-Cook G, Tuddenham EG. Dysfunctional human factor VII variants: detection of missense mutations by PCR and single-strand conformational polymorphism (SSCP). Thromb Haemost 1993; 69:1291; (abstract).
14. Wulff K, Herrmann FH. Twenty two novel mutationsofthefactorVII gene in factor VII deficiency. Hum Mutat 2000; 15:489-496.
15. Horellou MH, Chalendard J, Juin F, Conard J, Gouault-Heilmann M, Tapon-Bretaudière J. Source of tissue factor leading to discrepant plasma FVII levels in eight FVII-deficient patients of African origin. J Thromb Haemost 2007; 5 (Suppl 2):P-M-002.