Summary
The factor IX genes in four Japanese families with haemophilia B were analysed for the restriction fragment length polymorphisms (RFLPs) ofTaqI,XmnI andDdeI, using subcloned intragenic DNA fragments as probes (probes VIII and XIII). The factor IX genes in 12 patients with haemophilia B and three high-responder-inhibitor cases showed no size difference using a cDNA probe (cVII) when restricted byTaqI,EcoRI andHindIII. Complete gene deletions were observed in two other high-responder-inhibitor cases.
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Antonarakis, S.E., Waber, P.G., Kittur, S.D., Patel, B.S., Kazazian, H.H., Jr., Mellis, M.A., Counts, R.B., Stamatoyannopoulos, G., Bowie, E.J.W., Fass, D.N., Pittman, M.S., Wozney J.M., and Toole, J.J. 1985. Hemophilia A. Detection of molecular defects and carriers by DNA analysis.New Engl. J. Med. 313: 842–848.
Anson, D.S., Choo, K.H., Rees, D.J.G., Giannelli, F., Could, K., Huddleton, J.A., and Brownlee, G.G. 1984. The gene structure of anti-haemophilic factor IX.EMBO 3: 1053–1060.
Barker, D., Schafer, M., and White, R. 1984. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA.Cell 36: 131–138.
Bernardi, F., del Senno, F., Barbieri, R., Buzzoni, D., Gambari, R., Marchetti, G., Conconi, F., Panicucci, F., Positano, M., and Pitruzzello, S. 1985. Gene deletion in an Italian haemophilia B subject.J. Med. Genet. 22: 305–307.
Brocker-Vriends, A.H.J.T., Briet, E., Quadt, R., Bertina, R.M., van der Linden, I.K., van de Kamp, J.J.P., Pearson, P.L., and Veltkamp, J.J. 1985. Carrier detection of haemophilia B by using an intragenic restriction-fragment length polymorphism.Thromb. Haemostas. 54: 506–509.
Camerino, G., Grzeschik, K.H., Jaye, M., de la Salle, H., Tolstoshev, P., Lecocq, J.P., Heilig, R., and Mandel, J.L. 1984. Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).Proc. Natl. Acad. Sci. U.S.A. 81: 498–502.
Camerino, G., Oberle, I., Drayna, D., and Mandel, J.L. 1985. A newMspI restriction fragment length polymorphism in the hemophilia B locus. 1985.Hum. Genet. 71: 79–81.
Chen, S-H., Yoshitake, S., Chance, P.F., Bray, G.L., Thompson, A.R., Scott, C.R., and Kurachi, K. 1985. An intragenic deletion of the factor IX gene in a family with hemophilia B.J. Clin. Invest. 76: 2161–2164.
Choo, K.H., Could, K.G., Rees, D.J.G., and Brownlee, G.G. 1982. Molecular cloning of the gene for human anti-haemophilic factor IX.Nature 299: 178–180.
Davis, L.M., McGraw, R.A., Graham, J.B., Roberts, H.R., and Stafford, D.W. 1984. Identification of the genetic defect in factor IX Alabama: DNA sequence analysis reveals a Gly substitution for Asp47.Blood 64: 262a (Suppl. 1) (Abst.).
Giannelli, F., Choo, K.H., Rees, D.J.G., Boyd, Y., Rizza, C.R., and Brownlee, G.G. 1983. Gene deletions in patients with haemophilia B and anti-factor IX antibodies.Nature 303: 181–182.
Giannelli, F., Anson, D.S., Choo, K.H., Rees, D.J.G., Winship, P.R., Ferrari, N., Rizza, C.R., and Brownlee, G.G. 1984. Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B Ifactor IX deficiency).Lancet I: 239–241.
Gitschier, J., Wood, W.I., Tuddenham, E.G.D., Shuman, M.A., Goralka, T.M., Chen, E.Y., and Lawn, R.M. 1985. Detection and sequence of mutations in the factor VIII gene of haemophiliacs.Nature 315: 427–430.
Gitschier, J., Wood, W.I., Shuman, M.A., and Lawn, R.M. 1986. Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.Science 232: 1415–1416.
Grunebaum, L., Cazenave, J-P., Camerino, G., Kloepfer, C., Mandel, J-L., Tolstoshev, P., Jaye, M., de la Salle, H., and Lecocq, J-P. 1984. Carrier detection of hemophilia B by using a restriction site polymorphism associated with the coagulation factor IX gene.J. Clin. Invest. 73: 1491–1495.
Hassan, H.J., Orland, M., Leonardi, A., Chelucci, C., Guerriero, R., Mannucci, P.M., and Peschle, C. 1985a. Intragenic factor IX restriction site polymorphism in hemophilia B variants.Blood 65: 441–443.
Hassan, H.J., Leonardi, A., Guerriero, R., Chelucci, C., Cianetti, L., Ciavarella, N., Ranieri, P., Pilolli, D., and Peschle, C. 1985b. Hemophilia B with inhibitor: Molecular analysis of the subtotal deletion of the factor IX gene.Blood 66: 728–730.
Hay, C.W., Robertson, K.A., Yong, S-L., Thompson, A.R., Growe, G.H., and MacGillivray, T.A. 1986. Use of aBamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status.Blood 67: 1508–1511.
Jaye, M., dela Salle, H., Schamber, F., Balland, A., Kohli, V., Findeli, A., Tolstoshev, P., and Lecocq, J-P. 1983. Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.Nucleic Acids Res. 11: 2325–2335.
Kurachi, K. and Davie, E.W. 1982. Isolation of a cDNA for human factor IX.Proc. Natl. Acad. Sci. U.S.A. 79: 6461–6464.
Noyes, C.M., Griffith, M.J., Roberts, H.R., and Lundblad, R.L. 1983. Identification of the molecular defect in factor IX Chapel Hill: Substitution of histidine for arginine at position 145.Proc. Natl. Acad. Sci. U.S.A. 80: 4200–4202.
Peake, I.R., Furlong, B.L., and Bloom, A.L. 1984. Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency).Lancet I: 242–243.
Rees, D.J.G., Rizza, C.R., and Brownlee, G.G. 1985. Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.Nature 316: 643–645.
Rigby, P.W.J., Dieckmann, M., Rhodes, C., and Berg, P. 1977. Labeling deoxyribonucleic acid to high specific activityin vitro by nick translation with polymerase I.J. Mol. Biol. 113: 237–251.
Southern, E.M. 1975. Detection of specific sequences among DNA fragments separated by gel electrophoresis.J. Mol. Biol. 98: 503–517.
Winship, P.R., and Anson, D.S., Rizza, C.R., and Brownlee, G.G. 1984. Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphism.NucleicAcids Res. 12: 8861–8872.
Yoshitake, S., Schach, B.G., Foster, D.C., Davie, E.W., and Kurachi, K. 1985. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).Biochemistry 24: 3736–3750.
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Mikami, S., Nishino, M., Nishimura, T. et al. RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients. Jap J Human Genet 32, 21–31 (1987). https://doi.org/10.1007/BF01876524
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DOI: https://doi.org/10.1007/BF01876524
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