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Human Genetics

, Volume 55, Issue 3, pp 375–381 | Cite as

Assignment of the genes for human lysosomal acid lipases A and B to chromosomes 10 and 16

  • Nguyen Van Cong
  • D. Weil
  • M. C. Hors-Cayla
  • M. S. Gross
  • S. Heuertz
  • C. Foubert
  • J. Frezal
Original Investigations

Summary

Twenty-three independent man-hamster (CH/HGPRT-) hybrids were analysed for human acid lipases and for some other human enzyme markers (PP, GOT 1, PGP) and chromosomes. Eighteen independent man-mouse (LA/HGPRT-TK) hybrids were analysed for human acid lipases, human enzyme marker PGP and human chromosomes.

Three fibroblasts from unrelated patients with WD (Wolman's disease), one fibroblast from a heterozygote for WD, and 15 normal fibroblasts were analysed for acid lipases.

The following results were obtained:
  1. 1)

    A positive correlation was observed between acid lipase A and Chr. 10, and between acid lipase B and Chr. 16. In fact, among 23 independent man-hamster hybrids, 6 were Chr. 10+PP+GOT 1+LIP A+ and 17 were Chr. 10-PP-GOT 1-LIP A-, and among 41 independent man-rodent hybrids 23 were Chr. 16+ PGP+LIP B+ and 18 were Chr. 16-PGP-LIP B-. Except for Chr. 10, the other autosomes were observed in hybrids LIP A, and except for Chr. 16, the other autosomes were observed in hybrids LIP B-.

    These results indicate that the gene for lipase A is on Chr. 10 and the gene for lipase B is on Chr. 16.

     
  2. 2)

    The acid lipase A is deficient in WD fibroblasts. Therefore the mutation responsible for WD is on Chr. 10. The B, C and at least three additional lipases were observed in WD fibroblasts and in WD heterozygote fibroblasts at pH 4.0 and with 4-methylumbelliferyl oleate as substrate. The relationship between these different acid lipases are obscure. In the normal fibroblasts from healthy control subjects a considerable variation in acid lipase A activity was observed. In some normal fibroblasts from healthy control subjects, in which the lipase A is reduced, we observed the same acid lipase zymogram pattern as in WD heterozygote fibroblasts.

     

Keywords

Internal Medicine Lipase Metabolic Disease Human Acid Oleate 
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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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • Nguyen Van Cong
    • 1
  • D. Weil
    • 1
  • M. C. Hors-Cayla
    • 1
  • M. S. Gross
    • 1
  • S. Heuertz
    • 1
  • C. Foubert
    • 1
  • J. Frezal
    • 1
  1. 1.Clinique et Unité de Recherches de Génétique Médicale (INSERM U 12)Hôpital des Enfants MaladesParis, Cedex 15France

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