Mcgill University

Bernard Brais

Guy A Rouleau

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:3, which includes introns and flanking genomic sequence. The allelic variants of GCG repeat of the human PAB II gene are associated with a disease related with protein accumulation in nucleus, such as polyalanine accumulation, a disease related with swallowing difficulties, such as oculopharyngeal muscular dystrophy. The present invention also relates to a method for the diagnosis of a disease with protein accumulation in nucleus, which comprises the steps of: a) obtaining a nucleic acid sample of said patient; and b) determining allelic variants of GCG repeat of the gene of claim, and wherein long allelic variants are indicative of a disease related with protein accumulation in nucleus.

Short GCG expansions in the PAB II gene for oculopharyngeal muscular dystrophy and diagnostic thereof

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.

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Outremont, Canada

Bernard Brais