Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21

D. A. Figlewicz, M. G. McInnis, J. Goto, J. L. Haines, A. C. Warren, A. Krizus, N. Khodr, R. H. Brown, D. McKenna-Yasek, S. E. Antonarakis, G. A. Rouleau

Research output: Contribution to journalArticlepeer-review

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive, adult-onset, neurodegenerative disorder characterized by the death of large motor neurons from the cerebral cortex, brainstem, and spinal cord, The etiology of ALS remains unknown; however, approximately 10% of the cases are familial in nature. In the majority of these families, the mode of transmission is autosomal dominant. Recently, linkage of an autosomal dominant familial ALS (FALS) gene to the locus ALS1 on chromosome 21q was established. In addition, evidence was provided for genetic heterogeneity, with approximately 55% of families most likely linked to chromosome 21. The development of a number of highly informative simple sequence repeat polymorphisms in the region of linkage - 21q21 through 21q22.1 - has permitted us to confirm both the assignment of ALS1 to 21q and the genetic heterogeneity of FALS. In addition, we have been able to refine the mapping of ALS1, based on recombination events in two of the linked families. Flanking markers for the FALS gene are D21S213 on the centromeric side and D21S219 on the telomeric side. The candidate region is approximately 4 Mb and contains the genes copper/zinc superoxide dismutase (CuZnSOD); the fourth member of the class II cytokine receptor family (CRF2-4); and the interferon-alpha receptor (IFNAR).

Original languageEnglish (US)
Pages (from-to)90-95
Number of pages6
JournalJournal of the Neurological Sciences
Volume124
Issue numberSUPPL.
DOIs
StatePublished - Jul 1994

Keywords

  • Amyotrophic lateral sclerosis
  • Chromosome 21
  • Familial amyotrophic lateral sclerosis
  • Human familial ALS gene
  • Motor neuron
  • Motor neuron disease

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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