Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature

Blood Coagulation and Fibrinolysis

Volumn 15, Issue 7, 2004, Pages 569-572

  Rossetti, Liliana C ^a   Candela, Miguel ^a   Pérez Bianco, Raúl ^a   De Tezanos Pinto, Miguel ^a   Western, Andrea ^b   Goodeve, Anne ^b   Larripa, Irene B ^a   De Brasi, Carlos D ^a  

^a INST DE INVEST HEMATOLOGICAS   (Argentina)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Factor VIII gene; Genetics analysis; Haemophilia A; Intron 1; Inversion; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ACCURACY; ARGENTINA; CHROMOSOME INVERSION; DISEASE SEVERITY; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HEMOPHILIA A; HETEROZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; X CHROMOSOME;

ARGENTINA; FACTOR VIII; FAMILY; FEMALE; GENETIC SCREENING; HEMOPHILIA A; HUMANS; INTRONS; MALE; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 5644291818     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-200409000-00006     Document Type: Review

References (19)

1. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, et al. Characterisation of the human factor VIII gene. Nature 1984; 312:326-330.
2. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe Haemophilia A. Nat Genet 1993; 5:236-241.
3. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large inversions. Hum Molec Genet 1993; 2:1773-1778.
4. Antonarakis SE, Rossiter JP, Young M, Horst J, De Moerloose P, Sommer SS, et al., and a consortium of more than 50 international authors. FVIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995; 86:2206-2212.
5. De Brasi CD, Candela M, Cermelj M, Larripa IB, Pérez Bianco R, de Tezanos Pinto M. Intron 22 factor VIII gene inversions in Argentine patients with severe haemophilia A. Haemophilia 2000; 6:21-22.
6. Naylor JA, Buck D, Green PM, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions Hum Molec Genet 1995; 4:1217-1224.
7. Brinke A, Tagliavaca, Naylor J, Green PM, Giangrande P, Giannelli F. Two chimeric transcription units results from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocation in T-cell leukemia. Hum Molec Genet 1996; 5:1945-1951.
8. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe Hemophilia A. Blood 2002; 99:168-174.
9. De Brasi CD. Genetic markers linked to the coagulation factor VIII gene. Their utility for molecular diagnosis in Haemophilia A and for the study of the molecular mechanism of homologous recombination in human meiosis. Ph.D. Thesis. Buenos Aires: Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires; 2001.
10. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning, a laboratory manual, 2nd edition. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press; 1989.
11. Lahiri DK, Nuremberg JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucl Acids Res 1991; 19:5444.
12. Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright, et al. Precise carrier diagnosis in families with Haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998; 79:723-726.
13. Oldenburg J, Brackmann HH, Schwaab R. Risk factors for Inhibitor development in hemophilia A. Haematologica 2000; 85:7-14.
14. Riccardi F, Tagliaferri A, Manotti C, Pattacini C, Neri TM. Intron factor VIII gene inversion in a population of Italian hemophilia A patients [Letter]. Blood 2002; 100:3432.
15. Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003; 88:118-120.
16. Tizzano EF, Domenech M, Altisent C, Tusell J, Baiget M. Inversions of the intron 22 of the factor VIII gene in Spanish haemophilia A patients [Letter]. Blood 1994; 83:3826.
17. Acquila M, Pasino M, Lanza T, Bottini F, Boeri E, Bicocchi MP. Frequency of factor VIII gene intron 1 inversion in a cohort of severe hemophilia A Italian patients [Letter]. Haematologica 2003; 88:ELT17.
18. Andrikovics H, Klein I, Bors A, Nemes L, Marosi A, Vȧradi A, et al. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003; 88:778-784.
19. Uen C, Oldenburg J, Schroder J, Brackmann HJ, Schramm W, Schwaab R, et al. 2% Haemophilia A patients without mutations in the FVIII gene. Hamostaseologie 2003; 23:1-5.