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Use of genetic markers to diagnose familial dysautonomia

CA 2403696 A1 · Owner: The General Hospital Corporation · Inventors: Blumenfeld, Anat; Gusella, James F.; Slaugenhaupt, Susan

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Abstract From the Canadian patent

Familial Dysautonomia (FD), is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and Ashkenazi Jewish ancestry. The familial dysautonomia disease gene (DYS) has previously been mapped to an 11cM segment of chromosome 9q31-33 flanked by D9s53 and D9S105. Using new polymorphic loci the location of the gene is , narrowed to less than 0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and D9S1677 show no recombination with the , disease. Haplotype analysis confirmed this candidate region. The identification of these close flanking markers of the familial dysautonomia disease gene allows …

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Listed from its CIPO record in Patent Yard's archive of Canadian patents past their term. Its claims, description and drawings are in the CIPO record and on Google Patents, and the Claude kit works from them.

Why it's free to use

  • Filed March 15, 2000. No grant is recorded for it in Canada; had it been granted, its 20-year term would have ended March 15, 2020.
  • A certificate of supplementary protection adds at most two years for a drug, so even that would have ended by March 15, 2022.
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FiledMarch 15, 2000
GrantedNo grant recorded
Term endedMarch 15, 2020
Patent numberCA 2403696 A1
Classification (IPC)C12Q1/68 +1 more

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2001200320052007200920112013201520172019Application filedMarch 15, 2000Term endedMarch 15, 2020

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Everything on this page comes from the CIPO record linked above. Contains information licensed under the Open Government Licence – Canada.