Method of detecting equine polysaccharide storage myopathy

• US 8,268,557 B2
• Filed: 02/14/2007
• Issued: 09/18/2012
• Est. Priority Date: 02/14/2007
• Status: Active Grant

• Current Assignee: Equine PSSM Genetics LLC
• Original Assignee: James R. Mickelson, Molly E. Mccue, Stephanie J. Valberg
• Inventors: Valberg, Stephanie J., McCue, Molly E., Mickelson, James R.
• Primary Examiner(s): GOLDBERG, JEANINE ANNE
• Application Number:
  US12/527,117
• Publication Number:
  US 20100279286A1
• Time in Patent Office: 2,043 Days
• Field of Search: None
• US Class Current: 435/6.1
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 1/6888 for detection or identification of organisms
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

The present invention relates to diagnosing Polysaccharide Storage Myopathy (PSSM) disease in equines.

Claims

1. A method for detecting the presence of a biomarker in a horse, comprising identifying in a nucleic acid sample from the horse an adenine (A) at nucleotide 926 of SEQ ID NO:

1.

2. The method of claim 1, further comprising contacting the sample with at least one oligonucleotide probe to form a hybridized nucleic acid and amplifying the hybridized nucleic acid.

3. The method of claim 2, wherein exon 6 of equine glycogen synthase enzyme 1 or a portion thereof is amplified.

4. The method of claim 2, wherein the amplification of the hybridized nucleic acid is carried out by polymerase chain reaction, strand displacement amplification, ligase chain reaction, or nucleic acid sequence-based amplification.

5. The method according to claim 2, wherein at least one oligonucleotide probe is immobilized on a solid surface.

6. A method for detecting the presence of a biomarker, comprising determining the presence of the biomarker in a physiological sample from a horse, wherein the sample comprises nucleic acid, wherein the biomarker comprises an equine GYS1 gene having an A at nucleotide 135 of SEQ ID NO:

3.

7. The method of claim 6, further comprising contacting the sample with at least one oligonucleotide probe to form a hybridized nucleic acid and amplifying the hybridized nucleic acid.

8. The method of claim 7, wherein exon 6 of equine glycogen synthase enzyme 1 (GYS1) or a portion thereof is amplified.

9. The method of claim 7, wherein the amplification of the hybridized DNA is carried out by polymerase chain reaction, strand displacement amplification, ligase chain reaction, or nucleic acid sequence-based amplification.

10. The method according to claim 7, wherein at least one oligonucleotide probe is immobilized on a solid surface.

11. A method for detecting the presence of a biomarker, comprising determining the presence of the biomarker in a physiological sample from a horse, wherein the sample comprises nucleic acid, wherein the biomarker comprises a GYS1 gene that encodes an enzyme having an H at amino acid residue 309.