Human Genetics

, Volume 85, Issue 5, pp 473–476

The gene for 17beta-hydroxysteroid dehydrogenase maps to human chromosome 17, bands q12–q21, and shows an RFLP with ScaI

  • Robert Winqvist
  • Hellevi Peltoketo
  • Veli Isomaa
  • Karl-Heinz Grzeschik
  • Arto Mannermaa
  • Reijo Vihko
Original Investigations

DOI: 10.1007/BF00194219

Cite this article as:
Winqvist, R., Peltoketo, H., Isomaa, V. et al. Hum Genet (1990) 85: 473. doi:10.1007/BF00194219

Summary

The gene encoding human 17beta-hydroxy-steroid dehydrogenase (17-HSD; EC 1.1.1.62) is assigned to chromosome 17 by Southern blotting analyses of panels of human x rodent somatic cell hybrids and independently to 17q12–q21 using chromosomal in situ hybridization. A search for physical linkage between 17-HSD and the proto-oncogenes, THRA1 and ERBB2 (both reported to be located in this region of chromosome 17) was performed by pulsed-field gel electrophoresis (PFGE) using several rare-cutting restriction endonucleases. Because all three genes hybridized to DNA fragments of different lengths it seems unlikely that the gene for 17-HSD is located very close to THRA1 and ERBB2. Further evidence for this assumption was obtained from the absence of any coamplification of the 17-HSD gene in 9 breast tumors with amplification of the ERBB2 gene. Analyses of Southern blots of ScaI-digested DNAs from unrelated individuals from Northern Finland revealed a relatively infrequent diallelic restriction fragment length polymorphism, the allele frequencies of which were 0.04 (A1) and 0.96 (A2).

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • Robert Winqvist
    • 1
  • Hellevi Peltoketo
    • 2
  • Veli Isomaa
    • 2
  • Karl-Heinz Grzeschik
    • 3
  • Arto Mannermaa
    • 1
  • Reijo Vihko
    • 2
  1. 1.Department of Clinical GeneticsOulu University Central Hospital, University of OuluOuluFinland
  2. 2.Biocenter and Department of Clinical ChemistryUniversity of OuluOuluFinland
  3. 3.Institut für Humangenetik der UniversitätMarburgFederal Republic of Germany