Molecular genetics of hemophilia A;Genetica molecular de la hemofilia A

Medicina

Volumn 56, Issue 5 I, 1996, Pages 509-517

  De Brasi, Carlos D ^a   Slavutsky, Irma R ^a   Larripa, Irene B ^a  

^a INST DE INVEST HEMATOLOGICAS   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

CHROMOSOME INVERSION; FEMALE; GENE THERAPY; GENETICS; HEMOPHILIA A; HUMAN; MALE; MUTATION; REVIEW;

FACTOR VIII; FEMALE; GENE THERAPY; HEMOPHILIA A; HUMANS; INVERSION, CHROMOSOME; MALE; MUTATION;

EID: 0030326040     PISSN: 00257680     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Graham JB, Buckwalter JA, Harley LJ, Brinhous KM. Canine hemophilia: Observations of the course, the clotting anomaly and the effect of blood transfusions. J Exp Med 1949; 90: 97-100.
2. McKusick VA. The earliest record of hemophilia in America? Blood 1962; 19: 243-4.
3. McKusick VA. Mendelian Inheritance in Man A catalog of human genes and genetics disorders. Eleventh edition. Baltimore' The John Hopkins University Press 1994; Vol II: 2384-93.
4. Vehar GA, Keyt B, Eaton D et al. Structure of human factor VIII. Nature 1984; 312: 337-42.
5. Tuddenham EGD, Cooper DN, Gitschier J et al. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene. Nucleic Acids Res 1991; 19: 4821-33.
6. Wood WI, Capon DJ, Simonsen CC et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330-6.
7. Stubbs JD, Lecutis C, Singer KL et al. cDNA cloning of a mouse mammary epithelial cell surface protein reveals the existence of epidermal grow factor-like domains linked to factor VIII-like sequences. Proc Natl Acad Sci USA 1990; 87: 8417-21.
8. Pittman DD, Kaufman RJ. Proteolytic requeriments for thrombin activation of anti-hemophilic factor (factor VIII). Proc Natl Acad Sci USA 1988; 85: 2429-33.
9. Foster PA, Fulcher CA, Houghton RA, Zimmerman TS. Sinthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine. Blood 1990; 75: 1999-2004.
10. Gitschier J, Wood WI, Goralka TM et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
11. Toole JJ, Knopf JL, Wozney JM et al. Molecular cloning of a cDNA encoding human antihaemophilic factor Nature 1984; 312: 342-7.
12. Gitschier J, Wood WI, Tuddenham EGD et al. Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 1985; 315: 427-30.
13. Gitschier J, Kogan S, Levinson B et al. Mutations of factor VIII cleavage sites in hemophilia A. Blood 1988; 72: 1022-8.
14. Kogan SC, Gitschier J. Mutations and a polimorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1990; 87: 2092-6.
15. Higuchi M, Kazazzian HH, Kasch L et al. Molecular caracterization of severe hemophilia A suggest that about the mutations are not within the coding regions and splice junctions of te factor VIII gene. Proc Natl Acad Sci USA 1991; 88: 7405-9.
16. Higuchi M, Antonarakis SE, Kasch L et al. Molecular caracterization of mild-to-moderate hemophilia A: Detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1991; 88: 8307-11.
17. 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 Mol Genet 1993; 2: 1773-8.
18. Jenkins PV, Collins PW, Goldmar E et al. Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: Implications for genetic counseling. Blood 1994; 84: 2197-201.
19. Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 1994; 84: 2202-5.
20. Green PP, Mannucci PM, Briet E et al. Carrier detection in hemophilia A: A cooperative international study. II The efficacy of an universal discriminant. Blood 1986; 6: 1506-7.
21. Janco RL, Phillips III JA, Orlando PJ, Woodard MJ, Wion KL, Lawn RM. Detection of hemophilia A carriers using intragenic factor VIII:C DNA polimorphisms. Blood 1987; 69: 1539-41.
22. Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. N Engl J Med 1987; 317: 985-90.
23. Moodie P, Liddell MB, Peake IR, Bloom AL. Carrier detection in 50 haemophilia A kindred by means of three intragenic and two extragenic restriction fragment length polimorphisms. Br J Haematol 1988; 70: 77-84.
24. Gitschier J, Levinson B, Lehesjoki AE, De La Chapelle A. Mosaicism and sporadic haemophilia: Implications for carrier determination. Lancet 1989; 4: 273-4.
25. Lillicrap DP, Taylor SAM, Shuringa PCR et al. Variation of the non-factor VIII sequences detected by a probe from intron 22 of the factor VIII gene. Blood 1990; 1: 139-43.
26. Lalloz MRA, McVey JH, Pattinson JK, Tuddenham EGD. Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 1991; 338: 207-11.
27. Kazazzian HH, Wong C, Youssoufian H, Scott AF, Phillips DG, Antonarakis SE. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man. Nature 1988; 332: 164-6.
28. Lakich D, Kazazzian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are common cause of severe haemophilia A. Nature Genet 1993; 5: 236-41.
29. Rossiter JP, Young M, Kimberland ML et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-9.
30. Lu DR, Zhou JM, Zheng B, Qiu XF, Hsueh JL. Stage I clinical trial of gene therapy for hemophilia B. Sci China 1993; 36: 1343-51.
31. Zhou JM, Qiu XF, Lu DR, Hsueh JL. Long term expression of human factor IX cDNA in rabbits. Sci China 1983; 36: 1333-41.
32. Dwarki VJ, Belloni P, Nijjar T et al. Gene therapy for hemophilia A: production of terapeutic levels of human factor VIII in vivo in mice. Proc Natl Acad Sci USA 1995; 92: 1023-7.