Torsin, torsin genes, and methods of use

A method of detecting the presence or absence of a mutation in a nucleic acid in a biological sample, comprising the steps of:

• a) analyzing a biological test sample containing a dystonia gene comprising SEQ ID NO:
• 5, for at least one mutation at nucleotide positions 946-951 of SEQ ID NO:
• 5, wherein the mutation results in a deletion of a glutamic acid;
• b) comparing the results of the analysis of the biological sample with the results of analysis of a control sample, wherein the control sample comprises a dystonia gene without a mutation;
• and
• c) determining the presence or absence of the mutation in the test sample compared to the absence of the mutation in the control sample,
• wherein the presence of the mutation in the test sample is indicative of the presence of a dystonia disorder.

A method of determining the presence of a dystonia disorder in a human comprising the steps of:

• a) contacting a biological test sample obtained from the human with a nucleic acid probe comprising at least a fragment of SEQ ID NO:
• 5, or a complement of SEQ ID NO:
• 5, wherein the nucleic acid probe detects at least one mutation at nucleotide positions 946-951 of SEQ ID NO:
• 5, and wherein the mutation results in a deletion of a glutamic acid;
• b) maintaining the biological test sample and the nucleic acid probe under conditions suitable for hybridization;
• c) detecting hybridization between the biological test sample and the nucleic acid probe;
• and
• d) comparing hybridization in the biological test sample from the human to a control sample,
• wherein the presence of hybridization between the biological test sample and the nucleic acid probe compared to the control sample is indicative of the presence of a dystonia disorder in the human.

The method for determining the presence of a dystonia disorder, comprising the steps of:

• a) performing a nucleic acid amplification of a biological test sample with oligonucleotide primers capable of amplifying a region of exon 5 of SEQ ID NO:
• 5;
• b) analyzing the amplified nucleic acid fragments of the region of exon 5 of SEQ ID NO:
• 5 for at least one mutation at nucleotide positions 946-951 of SEQ ID NO:
• 5, wherein the mutation results in a deletion of a glutamic acid;
• and
• c) comparing the amplified nucleic acid fragments detected in step b) with amplified nucleic acid fragments of a control sample,
• wherein the presence of an amplified nucleic acid fragment in the biological sample compared to the control sample is indicative of the presence of a dystonia disorder.

A method of detecting the presence or absence of a mutation in a nucleic acid in a biological sample wherein the nucleic acid comprises SEQ ID NO:

• 5, comprising the steps of:
• a) analyzing a biological test sample containing a nucleic acid comprising SEQ ID NO:
• 5 for at least one mutation at nucleotide positions 946-951, wherein the mutation results in a deletion of a glutamic acid;
• b) comparing the results of the analyis of the biological sample with the results of analyis of a control sample wherein the control sample comprises SEQ ID NO:
• 5 without the mutation;
• and
• c) determining the presence or absence of the mutation in the test sample compared to the absence of the mutation in the control sample,
• wherein the presence of the mutation in the test sample compared to the absence of the mutation in the control sample is indicative of the presence of the mutation.