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Akane, A., Matsubara, K., Shiono, H., Yuasa, I., Yokota, S.-I., Yamada, M. and Nakagome, Y. 1990a. Paternity testing: blood group systems and DNA analysis by variable number of tandem repeat markers.J. Forensic Sci. 35: 1217–1225.
Akane, A., Nakajima, H., Shiono, H., Matsubara, K., Yamada, M. and Nakagome, Y. 1990b. A case of maternity testing: exclusion by polymorphic VNTR markers of DNA.Jpn. J. Human Genet. 35: 319–323.
Akane, A., Matsubara, K., Shiono, H., Yamada, M. and Nakagome, Y. 1991. Diagnosis of twin zygosity by hypervariable RFLP markers.Am. J. Med. Genet. 41: 96–98.
Chodirker, B.N., Evans, J.A., Lewis, M., Coghlan, G., Belcher, E., Phillipps, S., Seargeant, L.E., Sus, C. and Greenberg, C.R. 1987. Infantile hypophosphatasia-linkage with the RH locus.Genomics 1: 280–282.
Chodirker, B.N., Evans, J.A., Seargeant, L.E., Cheang, M.S. and Greenberg, C.R. 1990. Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening.Am. J. Hum. Genet. 46: 280–285.
Greenberg, C.R., Evans, J.A., McKendry-Smith, S., Redekopp, S., Haworth, J.C., Mulivor, R. and Chodirker, B.N. 1990. Infantile hypophosphatasia: localization within chromosome region 1p36.1–34 and prenatal diagnosis using linked DNA markers.Am. J. Hum. Genet. 46: 286–292.
Lund, E. and Dahlberg, J.E. 1984. True genes for human U1 small nuclear RNA, copy number, polymorphism, and methylation.J. Biol. Chem. 259: 2013–2021.
Nakamura, Y., Leppert, M., O'Connel, P., Wolff, R., Holm, T., Culver, M., Martin, C., Fujimoto, E., Hoff, M., Kumlin, E. and White, R. 1987. Variable number of tandem repeat (VNTR) markers for human gene mapping.Science 235: 1616–1622.
Nakamura, Y., Culver, M., Sergeant, L., Leppert, M., O'Connel, P., Lathrop, G.M., Lalouel, J.-M., and White, R. 1988. Isolation and mapping of a polymorphic DNA sequences (pYNZ2) on chromosome 1p (D1S57).Nucleic Acids Res. 16: 4747.
Ray, K., Weiss, M.J., Dracopoli, N.C. and Harris, H. 1988. Probe 8B/E5′ detects a second RFLP at the human liver/bone/kidney alkaline phosphatase (ALPL) locus.Nucleic Acids Res. 16: 2361.
Weiss, M.J., Henthorn, P.S., Lafferty, A., Slaughter, C., Raducha, M. and Harris, H. 1986. Isolation and characterization of a cDNA encoding a human liver/bone/kidney alkaline phosphatase.Proc. Natl. Acad. Sci. U.S.A. 263: 12002–12010.
Weiss, M.J., Spielman, R.S., and Harris, H. 1987. A high frequency RFLP at the human liver/bone/kidney-type alkaline phosphatase locus.Nucleic Acids Res. 15: 860
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Akane, A., Shiono, H., Matsubara, K. et al. Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: Case report. Jap J Human Genet 36, 335–339 (1991). https://doi.org/10.1007/BF01883608
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DOI: https://doi.org/10.1007/BF01883608