Human Genetics

, Volume 88, Issue 1, pp 95–97

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease

  • Johanna Schleutker
  • Leena Haataja
  • Martin Renlund
  • Lea Puhakka
  • Juha Viitala
  • Leena Peltonen
  • Pertti Aula
Original Investigations

DOI: 10.1007/BF00204936

Cite this article as:
Schleutker, J., Haataja, L., Renlund, M. et al. Hum Genet (1991) 88: 95. doi:10.1007/BF00204936

Summary

Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster — human hybrid cell panels, to chromosomes 13 (lamp A) and X (lamp B).

Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Johanna Schleutker
    • 1
  • Leena Haataja
    • 1
  • Martin Renlund
    • 2
  • Lea Puhakka
    • 4
  • Juha Viitala
    • 3
  • Leena Peltonen
    • 4
  • Pertti Aula
    • 1
  1. 1.Department of Medical GeneticsInstitute of Biomedicine, University of TurkuTurkuFinland
  2. 2.Department of ObstetricsUniversity of HelsinkiHelsinkiFinland
  3. 3.Department of BiochemistryUniversity of HelsinkiHelsinkiFinland
  4. 4.Laboratory of Molecular Genetics, National Public Health InstituteHelsinkiFinland

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