Short gcg expansions in the pab ii gene for oculopharyngeal...

Details Short gcg expansions in the pab ii gene for oculopharyngeal... Short gcg expansions in the pab ii gene for oculopharyngeal...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) C07K 14/47 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2218199

The present invention relates to a human PAB II gene containing transcribed polymorphic GCG repeat, which comprises a sequence as set forth in Fig. 4, 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 1, and wherein long allelic variants are indicative of a disease related with protein accumulation in nucleus.

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