METHODS AND COMPOSITIONS FOR LOCATING SNP HETEROZYGOSITY FOR ALLELE SPECIFIC DIAGNOSIS AND THERAPY
First Claim
1. A method for identifying the association between a disease-associated mutation and single nucleotide polymorphism (SNP) within a nucleic acid region comprising,obtaining a linear derivative of the nucleic acid region wherein the region comprises at least one SNP associated with the region,connecting the ends of the linear derivative to form a circular species in which the disease-associated mutation and SNP are positioned in closer proximity than the naturally-occurring disease associated mutation and SNP,producing at least a portion of the circular species containing the disease-associated mutation and SNP and,detecting the presence of the SNP and disease associated mutation thereby identifying their association within the same nucleic acid region.
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Abstract
The present invention provides methods for the rapid and cost effective identification of the presence of a disease-associated mutation and a particular SNP in the same allele of a gene without the need to clone and sequence the entire gene. The compositions and methods of the invention are useful for identification of patient to subpopulations amenable to treatment as part of a therapeutic strategy for treating genetic disorders, for example, dominant, gain-of-function gene mutations, for example, Huntington'"'"'s Disease (HD).
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Citations
27 Claims
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1. A method for identifying the association between a disease-associated mutation and single nucleotide polymorphism (SNP) within a nucleic acid region comprising,
obtaining a linear derivative of the nucleic acid region wherein the region comprises at least one SNP associated with the region, connecting the ends of the linear derivative to form a circular species in which the disease-associated mutation and SNP are positioned in closer proximity than the naturally-occurring disease associated mutation and SNP, producing at least a portion of the circular species containing the disease-associated mutation and SNP and, detecting the presence of the SNP and disease associated mutation thereby identifying their association within the same nucleic acid region.
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2. A method for identifying the association between a disease-associated mutation and SNP nucleotide in an RNA molecule comprising,
contacting the RNA molecule with a RISC complex programmed with a gene silencing agent for the SNP, wherein SNP-specific RNA cleavage is achieved, connecting the ends of the fragments of cleaved RNA to form a circular species, producing a portion of the circularized species containing the disease-associated mutation and, detecting the presence of the SNP and disease-associated mutation thereby identifying their association in the same RNA molecule.
- 24. A kit for carrying out the methods of any one of the above preceding claims.
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26. Use of SNP information or SNP nucleic acid sequence as disclosed herein or as identified according to any of the preceding methods for use in a kit, pharmaceutical composition, research, diagnosis, or therapy.
Specification