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Thromb Haemost 1991; 66(01): 037-039
DOI: 10.1055/s-0038-1646370
DOI: 10.1055/s-0038-1646370
Review Article
Genetic Basis of Hemophilia A
Further Information
Publication History
Publication Date:
25 July 2018 (online)
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References
- 1 Rosner F. Hemophilia in the Talmud and Rabbinic writings. Ann. Intern. Med. 1969; 70: 833-837
- 2 Haldane JBS. The rate of spontaneous mutation of a human gene. J. Genet. 1935; 31: 317-326
- 3 Gitschier J, Wood WI, Goralka TM. et al. Characterization of the human factor VIII gene. Nature 1984; 3 12(5992) 326-330
- 4 Southern E. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 1975; 98: 503
- 5 Gitschier J, Wood WI, Shuman MA, Lawn RM. Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. Science 1985; 232: 1415-1416
- 6 Antonarakis SE, Waber PG, Kittur SD. et al. Hemophilia A: Detection of molecular defects and carriers by DNA analysis. N. Engl. J. Med. 1985; 313: 842-848
- 7 Youssoufian H, Antonarakis SE, Aronis S, Tsiftis G, Phillips DG, Kazazian Jr HH. Charactarization of five partial deletions of the factor VIII gene. Proc. Natl. Acad. Sci. U.S.A. 1987; 84: 3772-3776
- 8 Thompson AR. Molecular biology of the hemophilias. Prog. Hem. Thromb. 1990 10:in press
- 9 Gitschier J, Wood WI, Tuddenham EGD. et al. Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature 1985; 315 (6018) 427-430
- 10 Levinson B, Janco R, Phillips III J, Gitschier J. A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. Nucleic Acids Res. 1987; 1 5(23) 9797-9805
- 11 Inaba H, Fujimaki M, Kazazian Jr HH, Antonarakis SE. Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. Hum. Genet. 1989; 81: 335-338
- 12 Kazazian 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: 164-166
- 13 Dombroski BA, Kazazian Jr HH, Scott AF. Isolation and characterization of a putative functional L1 retrotransposon. Am. J. Hum. Genet. 1989; 45: A183
- 14 Saiki RK, Scharf S, Faloona F. et al. Enzymatic amplification of b-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 230: 1350-1354
- 15 Myers RM, Lumelsky N, Lerman LS, Maniatis T. Detection of single base substitutions in total genomic DNA. Nature 1985; 313: 495-498
- 16 Cotton RGH, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc. Natl. Acad. Sci. U.S.A. 1988; 85: 4397-4401
- 17 Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. U.S.A. 1989; 86: 2766-2770
- 18 Fischer SG, Lerman LS. DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: Correspondence with melting theory. Proc. Natl. Acad. Sci. U.S.A. 1983; 80: 1579-1583
- 19 Higuchi M, Wong C, Kochhan L. et al. Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. Genomics 1990; 6: 65-71
- 20 Traystman MD, Higuchi M, Kasper C, Antonarakis SE, Kazazian HH. Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. Genomics 1990; 6: 293-301
- 21 Kogan S, Gitschier J. Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. U.S.A. 1990; 87: in press
- 22 Antonarakis SE, Kazazian Jr HH. The molecular basis of hemophilia A in man. Trends Genet. 1988; 4: 233-237
- 23 White GC, Shoemaker CB. Factor VIII gene and hemophilia A. Blood 1989; 73: 1-12
- 24 Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian Jr HH. Nonsense and missense mutations in hemophilia A: Estimate of the relative mutation rate at CG dinucleotides. Am. J. Hum. Genet. 1988; 42: 718-725
- 25 Levinson B, Lehesjoki A-E, de la Chapelle A, Gitschier J. Molecular analysis of hemophilia A mutations in the Finnish population. Am. J. Hum. Genet. 1990; 46: 53-62
- 26 Arai M, Aly A, Hoyer LW. Cysteamine increases factor VIII-East Hartford (Arg-1689 to cys) procoagulant activity. Blood 1989; 74 (7) 35a
- 27 Tuddenham EGD, Pattinson JK, Millar DS, Cooper DN. Mutations at CpG dinucleotides causing haemophilia A. In: Theodore S. Zimmerman Memorial Conference:. Progress in Vascular Biology, Hemostasis and Thrombosis. New York Acad of Sci: 1990. abstract
- 28 Bakker E, Veenema H, den Dunnen JT. et al. Germinal mosaicism increases the recurrence risk for "new" Duchenne muscular dystrophy mutations. J. Med. Genet. 1989; 26: 553-559
- 29 Gitschier J, Drayna D, Tuddenham EGD, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a Bcl I polymorphism in the factor VIII gene. Nature 1985; 3 14(6013) 738-740
- 30 Wion KL, Tuddenham EGD, Lawn RM. A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res. 1986; 14: 4535-4542
- 31 Oberle I, Camerino G, Heilig R. et al. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. N. Engl. J. Med. 1985; 312: 682-686
- 32 Kenwrick S, Gitschier J. A contiguous, 3-Mb physical map of Xq28 extending from the color-blindness locus to DXS15. Am. J. Hum. Genet. 1989; 45: 873-882
- 33 Zimmerman TS, Ratnoff OD, Littell AS. Detection of carriers of classic hemophilia using an immunologic assay for antihemophilic factor (factor VIII). J. Clin. Invest. 1971; 50: 255-258
- 34 Mibashan RS, Peake IR, Rodeck CH. et al. Dual diagnosis of prenatal haemophilia A by measurement of fetal factor VIIIC and VIIIC antigen (VIIICAg). Lancet 1980; ii: 994-997
- 35 Levinson B, Kenwrick S, Lakich D, Hammonds G, Gitschier J. A transcribed gene in an intron of the human factor VIII gene.. Genomics 1990 7. in press