The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Dec. 07, 2004
Filed:
Jun. 08, 2000
Guy A. Rouleau, Montreal, CA;
Bernard Brais, Outremont, CA;
McGill University, Montreal, CA;
Abstract
The present invention relates to a human PAB II gene containing transcribed polymorphic GCG repeat, which comprises a sequence as set forth in SEQ ID NO:18, which includes introns and flanking genomic sequence. Allelic variants of GCG repeat of the human PAB II gene are associated with a disease related with protein accumulation in the nucleus, such as polyalanine accumulation, or with swallowing difficulties, such as oculopharyngeal muscular dystrophy. The present invention also relates to a method for the diagnosis of a disease associated with protein accumulation in the nucleus, which comprises the steps of: a) obtaining a nucleic acid sample of a patient; and b) determining allelic variants of GCG repeat of the PAB II gene, and wherein long allelic variants are indicative of a disease related with protein accumulation in the nucleus.