Patent ID: 9611512
Date: 2017-04-04
CPC Classifications: C12Q

Claim:
1. A method of detecting a mutation in at least one allele of senataxin (SETX) gene, comprising: amplifying all or a fragment of the SETX gene in a test sample from an individual with a pair of primers; and detecting the presence of at least one mutation of interest in the SETX gene, wherein the mutation of interest is selected from the group consisting of: a) a 2 base insertion of AT between positions corresponding to nucleotides 2747-2748 of SEQ ID NO:1; b) a single base transition C→T at a position corresponding to nucleotide 4816 of SEQ ID NO:1; c) a 6 base deletion of nucleotides corresponding to nucleotides 4873-4878 of SEQ ID NO:1 accompanied by an insertion of GG at the same location; d) a single base insertion of G between positions corresponding to nucleotides 4891-4892 of SEQ ID NO:1; e) a 2 base insertion of CA between positions corresponding to nucleotides 5301-5302 of SEQ ID NO:1; f) a 4 base deletion of nucleotides corresponding to nucleotides 5308-5311 of SEQ ID NO:1; g) a 2 base deletion of nucleotides corresponding to nucleotides 5591-5592 of SEQ ID NO:1; h) a single base deletion of a nucleotide corresponding to of nucleotide 5958 of SEQ ID NO:1; i) a single base insertion of A between positions corresponding to nucleotides 6422-6423 of SEQ ID NO:1; j) a single base transition C→T at a position corresponding to nucleotide 6292 of SEQ ID NO:1; k) a four base deletion of nucleotides corresponding to nucleotides 6848-6851 of SEQ ID NO:1; l) a single base insertion of T between positions corresponding to nucleotides 479-480 of SEQ ID NO:1; and m) a 2 base deletion of nucleotides corresponding to nucleotides 6114-6115 of SEQ ID NO:1.