FVIII Polymorphism Reference List:

This listing is part of the FVIII polymorphism section provided by Dr Anne Goodeve.

Antonarakis, S.E., Waber, P.G., Kittur, S.D., Patel, A.S., Kazazian, H.H., Mellis M.A., Counts, R.B., Stamatoyannopoulos, G., Bowie, E.J.W., Fass, D.N., Pittman, D.D., Wozney, J.M. and Toole, J.J. (1985) Haemophilia A. Detection of molecular defects and of carriers by DNA analysis. New Engl. J. Med. 313, 842-848.

Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J. (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet. 1996;58:657-70.

Graham, J.B., Kunkel,G.R., Fowlkes D.M. and Lord, S.T. (1990) The utility of a Hind III polymorphism of factor VIII examined by rapid DNA analysis. Brit. J. Haematol. 76, 75-79.

Higuchi, M., Antonarakis, S.E., Kasch, L., Oldenberg, J., Petersen, E.E., Olek, K., Inaba, H. And Kazazian, H.H. (1991a) Molecular characterization of severe haemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proc. Natl. Acad. Sci. U.S.A. 88, 7405-7409.

Higuchi M, Antonarakis SE, Kasch L., Warren, T.C., McGinniss, M.J., Phillips, J.A., Kasper, C., Janco, R. And Antonarakis, S.E. (1991b) Molecular characterisation of mild to moderate hemophilia A: Detection of the mutation in 25 of 29 patient by denaturing gradient gel electrophoresis. Proc. Nat. Acad. Sc.i U.S.A. 88, 8307-8311.

Inaba, H., Fujimaki, M., Kazazian, H.H. and Antonarakis, S.E. (1990) Msp I polymorphic site in intron 22 of the factor VIII gene in the Japanese population. Hum. Genet. 84, 214-215.

Kenwrick, S., Bridge, P., Lillicrap, D., Lehesjoki, A E., Bainton, J. and Gitschier, J. (1991) A Taq I polymorphism adjacent to the factor VIII gene (F8C). Nucl. Acids. Res. 19, 2513.

Klopp, N., Oldenburg, J., Uen, C., Schneppenheim, R. and Graw, J. (2002) 11 Hemophilia A patients without mutations in the FVIII encoding gene. thromb. Haemost. 88, 347-60.

Kogan, S. and Gitschier, J. (1990) Mutations and a polymorphism in the factor VIII gene discovered by denaturing gel electrophoresis. Proc. Natl. Acad. Sci. U.S.A. 87, 2092-2096.

Kogan, S.C., Doherty, M. And Gitschier, J. (1987) An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. New Engl. J. Med. 317, 985-990.

Lalloz, M.R.A., McVey, J.H., Pattinson, J.K. and Tuddenham, E.G.D. (1991) Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the human factor VIII gene. Lancet 338, 207-211.

Lalloz, M.R.A., Schwaab, R., McVey, J.H., Michaelides, K. And Tuddenham, E.G.D. (1994) Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br. J. Haematol. 86, 804-809.

Toole, J.J., Knopf, J.L., Wozney, J.M. Sultzman, L.A., Buecker, J.L., Pittman, D.D., Kaufman, R.J., Brown, E., Shoemaker, C., Orr, E.C., Amphlett, G.W., Foster, W.B., Coe, M.L., Knutson, G.L., Fass, D.N. and Hewick, R.M. (1984) Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 312, 342-347.

Tuddenham, E.G.D., Cooper, D.N., Gitschier, J., Higuchi, M., Hoyer, L.W., Yoshioka, A., Peake, I.R., Schwaab, R., Olek, K., Kazazian, H.H., Lavergne, J M. and Antonarakis, S.E. (1991) Haemophilia A: Database of point mutations, deletions, insertions and rearrangements of the factor VIII gene. Nucl. Acids. Res. 19, 4821-4833.

Williams,I.J, Abuzenadah, A, Winship, P.R, Preston, F.E, Dolan, G, Wright, J, Peake, I.R and Goodeve, A.C. (1998) Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb & Haem 79, 723-6.

Wion, K.L., Tuddenham, E.G.D. and Lawn, R.M. (1986) A new polymorphism in the factor VIII gene for prenatal diagnosis of haemophilia A. Nucl. Acids Res. 14, 4535-4542.

Youssoufian, H., Phillips, D.G., Kazazian, H.H. and Antonarakis, S.E. (1987) Msp I polymorphism in the 3' flanking region of the human factor VIII gene. Nucl. Acids Res. 15, 6312.