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Japanese Journal of Human Genetics

, Volume 36, Issue 4, pp 335–339 | Cite as

Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: Case report

  • Atsushi Akane
  • Hiroshi Shiono
  • Kazuo Matsubara
  • Hiroaki Nakamura
  • Masanori Hasegawa
  • Masato Kagawa
  • Ayame Kobayashi
  • Chuzo Mori
Short Communication
  • 34 Downloads

Key Words

carrier diagnosis infantile hypophosphatasia (HOPS) liver/bone/kidney alkaline phosphatase (ALPL) restriction fragment length polymorphism (RFLP) 

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References

  1. 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.PubMedGoogle Scholar
  2. 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.Google Scholar
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  4. 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.PubMedGoogle Scholar
  5. 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.PubMedGoogle Scholar
  6. 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.PubMedGoogle Scholar
  7. 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.PubMedGoogle Scholar
  8. 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.PubMedGoogle Scholar
  9. 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.PubMedGoogle Scholar
  10. 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.PubMedGoogle Scholar
  11. 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.Google Scholar
  12. 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: 860PubMedGoogle Scholar

Copyright information

© The Japan Society of Human Genetics 1991

Authors and Affiliations

  • Atsushi Akane
    • 1
  • Hiroshi Shiono
    • 1
  • Kazuo Matsubara
    • 1
  • Hiroaki Nakamura
    • 1
  • Masanori Hasegawa
    • 1
  • Masato Kagawa
    • 1
  • Ayame Kobayashi
  • Chuzo Mori
    • 2
  1. 1.Department of Legal MedicineShimane Medical UniversityIzumo 693Japan
  2. 2.Department of PediatricsShimane Medical UniversityIzumo 693Japan

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