Summary
Two intragenic recombinant DNA probes derived from segments of the factor IX gene have been used to investigateTaql, Ddel and Xmnl restriction fragment length polymorphisms (RFLPs) in DNA from two Irish haemophilia B families.Xmnl and Taql polymorphisms were informative, permitting direct evalu-ation of carrier status in four females. In one family, the molecular basis for haemophilia B was a deletion removing a portion, or all of the factor IX gene.
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Anson, D. S., Choo, K. H., Rees, D. J. G., Gianelli, F., Gould, J., Huddleston, J. A.and Brown lee, G. G. 1984. The gene structure of human antihaemophilic factor IX. EMBO J., 3, 1053–1060.
Austen, D. E. G. and Rymes, I. L. 1975. A laboratory manual of blood coagulation. Blackwell Scientific Publications.
Bhattacharya, S. S., Wright, A. F., Clayton, J. F., Price, W. H., Phillips, C. I., McKeown, C. M. E., Jagy, M., Bird, A. C. Pearon, P. L., Southedn, E. M. and Evans, H. J. 1984. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature, 309, 253–255.
Gianelli, F., Choo, K. H., Winship, P. R., Rizza, C. R., Anson, D. S., Rees, D. J. G., Ferrari, N. and Brownlee, G. G. 1984. Characterization and! use of an intragenic polymorphism marker for detection of carriers of haemophilia B (factor IX deficiency). Lancet i, 239–241.
Gitschier, J., Drayna, D., Tuddenham, E. G. D., White, R. L. and Lawn, R. M. 1985. Genetic map** and diagnosis of haemophilia A achieved through a Bcll polymorphism in the factor VIII gene. Nature. 314, 738–740.
Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K., Wallace, M. R., Sakaguchi, A. Y., Young, A. B., Shoulson, I., Bonilla, E. and Martin, J. B. 1983. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature, 306, 234–238.
Humphries, P., McKay, A., Barton, D., Humphries, M. M. and Carritt, B. 1983. Isolation of a polymorphic segment unique to human chromosome 7 by molecular cloning of hybrid cell DNA. Mol. Gen. Genet. 190, 143–149.
Humphries, P., MacCabe, A. M., Spencer, R. A., Humphries, M. M. and Pearson, C. 1985. Structural and transcriptional properties associated with a member of a new family of conserved short interspersed repeated elements in human DNA. Gene, 39, 255–261.
Knowlton, R. G., Cohen-Haguenauer, O., Van Cong, N., Frezal, J., Brown, V. A., Barker, D., Braman, J. C., Schumm, J. W., Tsui, L-C., Buchwald, M. and Donis-Keller, H. 1985. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature, 318, 380–382.
Monaco, A. P., Pertelson, C. J., Middlesworth, W., Colletti, C-A., Aldridge, J., Fischbeck, K. H., Partlett, R., Pericak-Vance, M. A., Roses, A. D. and Kunkel, L. M. 1985. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature, 316, 842–845.
Southern, E. M. 1978. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol., 98, 503–517.
Ullrich, A., Shine, J., Chigwin, J., Pjctet, R., Tischer, E., Rutter, W. J. and Goodman, H. D. 1977. Insulin genes: Construction of plasmids containing coding sequences. Science, 196, 1313–1319.
Wainwright, B. J., Scrambler, P. J., Schmidtke, J., Watson, E. A., Law, H-Y., Farrall, M., Cooke, H. J., Eiberg, H. and Williamson, R. 1985. Localization of cystic fibrosis locus to human chromosome 7 cen-q22. Nature, 318, 384–385.
White, R., Woodward, S., Leppet, M., O’Connell, P., Hoff, M., Herbst, J., Lalouel, J-M., Dean, M. and Wande Woude, G. 1985. A closely linked genetic marker for cystic fibrosis. Nature, 318, 382–384.
Winship, P. R., Anson, D. S., Rizza, C. R. and Brownlee, G. G. 1984. Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms. Nucleic Acids Research, 12, 8861–8872.
Woo, S. L. C., Lidsky, A. S., Guttler, F., Chandra, T. and Robson, K. J. H. 1983. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature, 306, 151–155.
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Geraghty, M., Sarsfield, P., Temperley, I. et al. Use of factor IX intragenic recombinant DNA probes for evaluation of carrier status in haemophilia B families of Irish Origin. I.J.M.S. 155, 419–424 (1986). https://doi.org/10.1007/BF02940545
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DOI: https://doi.org/10.1007/BF02940545