Human Genetics

, Volume 34, Issue 1, pp 35–43

Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34

Authors

  • M. A. Ferguson-Smith
    • University Department of Medical GeneticsRoyal Hospital for Sick Children
  • D. A. Aitken
    • University Department of Medical GeneticsRoyal Hospital for Sick Children
  • Catherine Turleau
    • Clinique de Génétique MédicaleHôpital des Enfants Malades
  • J. de Grouchy
    • Clinique de Génétique MédicaleHôpital des Enfants Malades
Original Investigations

DOI: 10.1007/BF00284432

Cite this article as:
Ferguson-Smith, M.A., Aitken, D.A., Turleau, C. et al. Hum Genet (1976) 34: 35. doi:10.1007/BF00284432

Summary

Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33→qter. This places the ABO: Np-1: AK-1 linkage group at the distal end of the long arm of chromosome 9.

Copyright information

© Springer-Verlag 1976