Human Genetics

, Volume 78, Issue 4, pp 330–332 | Cite as

The secretor locus as a marker for prenatal prediction of myotonic dystrophy (DM)

  • J. Greiner
  • D. H. Spengler
  • J. Krüger
  • G. Tariverdian
Original Investigations

Summary

To verify the reliability of secretor status for prenatal diagnosis of myotonic dystrophy (DM), 179 amniotic fluid samples were compared with saliva or urine samples of the infants by hemagglutination inhibition. While no discrepancies were observed, problems could arise with intermediate results. Additionally, secretor typing is only informative in 8.4% of patients.

Keywords

Internal Medicine Urine Sample Metabolic Disease Amniotic Fluid Prenatal Diagnosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Davies KE, Jackson J, Williamson R, Harper PS, Ball S, Sarfarazi M, Merdith L, Fey G (1983) Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet 20:259–263Google Scholar
  2. Eiberg H, Mohr J, Nielsen LS, Simonsen N (1983) Genetics and linkage relationships of the C3 polymorphism: discovery of C3-SE linkage and assignment of LES-C3-DM-SE-PEPD-LU synteny to chromosome 19. Clin Genet 24:159–170Google Scholar
  3. Gibson SLM, Ferguson-Smith MA (1980) The secretor status of the fetus. Clin Genet 18:97–102Google Scholar
  4. Greiner J, Tariverdian G (1983) Pränatale Diagnostik myotoner Dystrophie mittels Sekretoreigenschaften im Fruchtwasser. 18. Tagung der Gesellschaft für Anthropologie und Humangenetik, Münster, 1983Google Scholar
  5. Harper P, Bias WB, Hutchinson JR, Mc Kusick VA (1971) ABH-secretor-status of the fetus: a genetic marker identifiable by amniocentesis. J Med Genet 8:438–440Google Scholar
  6. Keil W, Sköries S, Kaiser B, Prenzlau P (1982) Die Bestimmung des fetalen Sekretorstatus aus der Amnionflüssigkeit. Beitrag zur Zuverlässigkeit der pränatalen Diagnostik der Dystrophia myotonica. Dtsch Gesundheitswes 37:995–998Google Scholar
  7. Mohr J (1954) A study on linkage in man. (Opera ex domo biologiae hereditariae humanae Universitatis Hafniensis, vol 33) Munksgaard, CopenhagenGoogle Scholar
  8. Race RR, Sanger R (1975) Blood groups in man, 6th edn. Blackwell Oxford LondonGoogle Scholar
  9. Spengler DH (1986) Pränatale Diagnostik der myotonischen Dystrophie Curschmann-Steinert: Indikation zur Amniozentese und Sensitivität der Sekretorstatusbestimmung im Fruchtwasser. Medical dissertation, University of HeidelbergGoogle Scholar
  10. Teichler-Zallen D, Doherty RA (1980) Amniotic fluid secretor typing: validation for use in prenatal prediction of myotonic dystrophy. Clin Genet 18:257–267Google Scholar
  11. Teichler-Zallen D, Doherty RA (1983) Fetal ABO blood group typing using amniotic fluid. Clin Genet 23:120–124Google Scholar

Copyright information

© Springer-Verlag 1988

Authors and Affiliations

  • J. Greiner
    • 1
  • D. H. Spengler
    • 1
  • J. Krüger
    • 1
  • G. Tariverdian
    • 1
  1. 1.Institut für Anthropologie und Humangenetik der UniversitätHeidelberg 1Federal Republic of Germany

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