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Journal of Inherited Metabolic Disease

, Volume 16, Issue 2, pp 335–338 | Cite as

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics

  • E. Hellsten
  • J. Vesa
  • I. Järvelä
  • T. P. Mäkelä
  • P. Santavuori
  • L. Peltonen
NCL Symposium — Molecular Genetics And Prenatal Diagnosis

Conclusions

The refined assignment of the INCL locus and the observed strong linkage disequilibrium with one highly informative tetranucleotide repeat polymorphism at 1p32 has created reliable tools for DNA-based prenatal and carrier diagnosis of INCL in the majority of the families. The observed tendency for homozygosity of one rare allele in Finnish INCL patients suggests a very close physical distance to the INCL gene and provides an excellent starting point for the molecular cloning of the gene. Identification of the gene defect causing this fatal brain disease will reveal the molecular pathogenesis of the disease but also will provide new information of a factor essential for normal postnatal development of cortical neurons.

Keywords

Linkage Disequilibrium Cortical Neuron Molecular Cloning Brain Disease Physical Distance 
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

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1993

Authors and Affiliations

  • E. Hellsten
    • 1
  • J. Vesa
    • 1
  • I. Järvelä
    • 1
  • T. P. Mäkelä
    • 2
  • P. Santavuori
    • 3
  • L. Peltonen
    • 1
  1. 1.Laboratory of Human Molecular GeneticsNational Public Health InstituteHelsinkiFinland
  2. 2.Cancer Biology Laboratory, Departments of Virology and PathologyUniversity of HelsinkiHelsinkiFinland
  3. 3.Department of Child NeurologyUniversity of HelsinkiHelsinkiFinland

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