Patent ID: 7118893

Claim:
A method of determining the presence or absence of a polymorphic CAG trinucleotide repeat in a human patient comprising determining the presence of a polymorphic CAG trinucleotide repeat in a CAG repeat region of a spinocerebellar ataxia, type 7 gene in a nucleic acid sample from said patient, and determining the size of the polymorphic CAG trinucleotide repeat wherein the presence of a polymorphic CAG trinucleotide repeat is determined by amplification of nucleic acid containing the CAG trinucleotide repeat using a pair of oligonucleotide primers which specifically amplify the region of nucleic acid containing the expanded CAG trinucleotide repeat, and detecting amplified products containing the CAG trinucleotide repeat region, wherein the oligonucleotide primers comprise SEQ ID NO:5 and SEQ ID NO:6.