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AssigneeUniversity of Washington
InventorsWendy H. Raskind, Dong-Hui Chen, Thomas D. Bird, Zoran Brkanac
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In one aspect, the invention provides methods of identifying genetic mutations that are associated with ataxic neurological disease. The methods comprise identifying a difference between a nucleic acid sequence of a protein kinase C gamma gene from a mammalian subject exhibiting ataxia and a nucleic acid sequence of a protein kinase C gamma gene from a subject which is not exhibiting ataxia, wherein the difference is a genetic mutation associated with ataxic neurological disease. In another aspect, isolated nucleic acid molecules encoding protein kinase C gamma missense mutations are provided. In another aspect, a method of screening a subject to determine if the subject has a genetic predisposition to develop an ataxic neurological disease is provided. In another aspect, the invention provides kits for determining susceptibility or presence of ataxic neurological disease in a mammalian subject.
A method of identifying genetic mutations that are associated with ataxic neurological disease in a mammalian subject, said method comprising identifying a difference between a nucleic acid sequence of a protein kinase C gamma gene from a first mammalian subject exhibiting ataxia and a nucleic acid sequence of a protein kinase C gamma gene from a second mammalian subject which is not exhibiting ataxia, wherein the first and second mammalian subjects are members of the same species, and wherein the difference between the nucleic acid sequences is a genetic mutation that is associated with ataxic neurological disease.
An isolated nucleic acid molecule encoding a protein kinase C gamma protein comprising a mutation selected from the group consisting of R41P, H101Y, S119P, Q127R, G128D, S361G and R597S.
A method of screening a mammalian subject to determine if said subject has a genetic predisposition to develop an ataxic neurological disease, or is suffering from an ataxic neurological disease, said method comprising analyzing the nucleic acid sequence of a protein kinase C gamma gene in a mammalian subject to determine whether an identified genetic mutation that is associated with an ataxic neurological disease is present in the nucleic acid sequence, wherein the presence of an identified genetic mutation in the protein kinase C gamma gene that is associated with an ataxic neurological disease indicates that the mammalian subject has a genetic predisposition to develop an ataxic neurological disease or is suffering from an ataxic neurological disease.
A kit for determining susceptibility or presence of ataxic neurological disease in a mammalian subject based on the detection of a mutation in a protein kinase C gamma gene, said kit comprising (i) one or more nucleic acid primer molecules for amplification of a portion of a protein kinase C gamma gene and (ii) written indicia indicating a correlation between the presence of said mutation and risk of ataxic neurological disease.
Dependencies are inferred from the claim text.