Patent ID: 8247173

Claim:
A method for detecting the presence of a repeat region comprising a CTG repeat within an at-risk allele of an SCA8 coding sequence comprising: (a) treating separate complementary DNA molecules containing a repeat region of the SCA8 coding sequence with a molar excess of two oligonucleotide primers, which each hybridize to a portion of the SCA8 coding region selected from nucleotides 1-448 and nucleotides 726-1159 of SEQ ID NO:1, nucleotides 1-1070 and nucleotides 1350-1472 of SEQ ID NO:2, and nucleotides 1-636 and nucleotides 915-1037 of SEQ ID NO:3; (b) extending the primers to foam complementary primer extension products which act as templates for synthesizing a desired DNA fragment containing the repeat region; (c) detecting the fragment so amplified; and (d) analyzing the amplified DNA fragment for a repeat region comprising a CTG repeat.