Spinocerebellar ataxia type 8 and methods of detection

摘要

The present invention provides an isolated nucleic acid molecule containing a repeat region of an isolated spinocerebellar ataxia type 8 (SCA8) coding sequence, the coding sequence located within the long arm of chromosome 13, and the complement of the nucleic acid molecule. Diagnostic methods based on identification of this repeat region are also provided.

主权项

1. A method for sequencing a SCA8 coding sequence in a human subject, comprising:
(a) providing a first reaction mixture comprising a DNA molecule in a biological specimen from a human subject and a first primer pair, wherein the DNA molecule comprises a SCA8 coding sequence, and wherein the primers in the first primer pair hybridize to a nucleotide sequence selected from the group consisting of nucleotides 1-448 and nucleotides 726-1159 of SEQ ID NO:1 or complements thereof, nucleotides 1-1070 and nucleotides 1350-1472 of SEQ ID NO:2 or complements thereof, and nucleotides 1-636 and nucleotides 915-1037 of SEQ NO:3 or complements thereof; (b) amplifying the SCA8 coding sequence from the human subject to produce a first amplified DNA fragment; (c) providing a second reaction mixture comprising the first amplified DNA and a second primer pair; (d) amplifying the SCAB coding sequence to produce a second amplified DNA, fragment; and (e) sequencing the second amplified DNA fragment.