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  • Molecular assay reagents intended to identify GCG repeats in the poly(A) binding protein, nuclear 1 (PABPN1) gene, located at chromosome 14q11.2-q13. Normal alleles have 6 or 7 CGC trinucleotide repeats. A variation from the expected number of normal CGC trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with 8 to 13 GCG trinucleotide repeats are associated with oculopharyngeal muscular dystrophy.
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