| US 7,537,893 B2 | ||
| Mitochondrial ND5 gene mutations in Parkinson's disease | ||
| W. Davis Parker, Jr., Charlottesville, Va. (US) | ||
| Assigned to Gene Solutions, LLC, Charlottesville, Va. (US) | ||
| Filed on Feb. 27, 2006, as Appl. No. 11/363,531. | ||
| Claims priority of provisional application 60/656223, filed on Feb. 25, 2005. | ||
| Prior Publication US 2006/0194239 A1, Aug. 31, 2006 | ||
| Int. Cl. C12Q 1/68 (2006.01); C07H 21/02 (2006.01); C07H 21/04 (2006.01); G01N 33/53 (2006.01); C07K 14/435 (2006.01) | ||
| U.S. Cl. 435—6 [536/23.1; 536/23.5; 536/24.31; 435/7.1; 530/350] | 8 Claims |
| 1. A method of diagnosing if a human subject has or will develop Parkinson's Disease, comprising
determining the presence or absence in the subject of a heteroplasmic, amino acid changing mutation in a region of the mitochondrial
ND5 gene,
wherein the region comprises codons 124-148,
wherein the presence of the heteroplasmic, amino acid changing mutation at one or more of codons 124-148 of the mitochondrial
ND5 gene indicates that the human subject has or will develop Parkinson's Disease.
|