Molecular genetic test for myoclonic epilepsy
AssigneeEmory University
InventorDouglas C. Wallace
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Abstract
The present invention relates to a method and manufacture for detecting neuromuscular disease, particularly Myoclonic Epilepsy and Ragged Red Fiber disease, by ascertaining whether a transition mutation has occurred at the 8344 nucleotide position in the mitochondrial DNA of a patient. The invention provides methods to detect this mutation including digestion of the patient's mtDNA with restriction endonucleases followed by analysis of the resulting fragments, differential hybridization of oligonucleotides, direct PCR sequencing and denaturing gradient gel electrophoresis.
Claims25
A method of detecting neuromuscular disease in a patient, comprising the step of ascertaining the presence of a transition mutation at the nucleotide position 8344 of human mitochondrial DNA obtained from a biological sample from said patient.
A method of detecting neuromuscular disease in a patient, comprising the step of ascertaining the presence of a transition mutation at the nucleotide position 8344 of human mitochondrial DNA obtained from a biological sample from said patient, wherein said ascertaining step is accomplished according to the steps of:
- (a) obtaining mitochondrial DNA from said sample;
- (b) digesting said mitochondrial DNA with a restriction endonuclease;
- (c) separating the resulting mitochondrial DNA fragments;
- and
- (d) determining the length of said fragments to detect the presence of said transition mutation at said 8344 position.
Dependencies are inferred from the claim text.