IP Library Granted Patent US 8,137,916
Granted Patent B2
US 8,137,916 · App. 12/912,421 · Granted Mar 20, 2012

Susceptibility gene for alzheimer's disease

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Quick Facts
Patent No.
US 8,137,916
App. No.
12/912,421
Granted
Mar 20, 2012
Kind
B2
Abstract

The invention relates to genetic screens for susceptibility to Alzheimer's disease. In particular, the invention provides genetic screens based on genotyping of the p21E2c31 C/A polymorphism and/or the p21E3+20 C/T polymorphism in the p21cip 1 gene.

Claims (28)

1. A method for indicating the pre-disposition of a male human subject to developing Alzheimer's disease, which method comprises:

(A) assaying a nucleic acid sample obtained from the subject for a p21 polymorphism to determine the allele present at said polymorphism, said p21 polymorphism being a p21 E2c31 C/A polymorphism;

and

(B) correlating the allele present at said polymorphism with the pre-disposition of said subject to developing Alzheimer's disease;

wherein a determination that said subject possesses a variant A allele of said p21E2c31 C/A polymorphism is taken as an indication that the subject is pre-disposed to Alzheimer's disease.

2. A method for diagnosing Alzheimer's disease in a male human subject exhibiting clinical symptoms of Alzheimer's disease, which method comprises:

(A) assaying a nucleic acid sample obtained from the subject for a p21 polymorphism to determine the allele present at said polymorphism, said p21 polymorphism being a p21 E2c31 C/A polymorphism;

and

(B) correlating the allele present at said polymorphism with the diagnosis of Alzheimer's disease in said subject;

wherein a determination that said subject possesses a variant A allele of said p21E2c31 C/A polymorphism is diagnostic that said subject has Alzheimer's disease.

3. A method of determining the existence of a genetic basis for Alzheimer's disease in a male human subject, which method comprises:

(A) assaying a nucleic acid sample obtained from the subject for a p21 polymorphism to determine the allele present at said polymorphism, said p21 polymorphism being a p21 E2c31 C/A polymorphism;

and

(B) correlating the allele present at said polymorphism with its contribution to the genetic basis for Alzheimer's disease in said subject;

wherein a determination that said subject possesses a variant A allele of said p21E2c31 C/A polymorphism indicates that a genetic variation that contributes to the genetic basis for Alzheimer's disease is present in said subject.

4. The method of claim 1 , wherein said assaying comprises a ligation detection reaction, single nucleotide primer extension, DNA sequencing or mass spectroscopy.

5. The method of claim 2 , wherein said assaying comprises a ligation detection reaction, single nucleotide primer extension, DNA sequencing or mass spectroscopy.

6. The method of claim 3 , wherein said assaying comprises a ligation detection reaction, single nucleotide primer extension, DNA sequencing or mass spectroscopy.

7. A method of determining the existence of a genetic basis for earlier onset of Alzheimer's disease in a female human subject exhibiting clinical symptoms of Alzheimer's disease, which method comprises:

(A) assaying a nucleic acid sample obtained from the subject for a p21E2c31 C/A polymorphism to determine the allele present at said polymorphism, and

(B) correlating the allele present at said polymorphism with the existence of a genetic basis for earlier onset of Alzheimer's disease in said subject, wherein a determination that said subject possesses a variant A allele of said p21E2c31 C/A polymorphism indicates that a genetic variation that contributes to the genetic basis for earlier onset of Alzheimer's disease is present in said subject, wherein said assaying comprises a ligation detection reaction, single nucleotide primer extension, DNA sequencing or mass spectroscopy.

8. The method of claim 1 , wherein said assaying employs a DNA microarray.

9. The method of claim 2 , wherein said assaying employs a DNA microarray.

10. The method of claim 3 , wherein said assaying employs a DNA microarray.

11. The method of claim 7 , wherein said assaying employs a DNA microarray.

12. The method of claim 1 , wherein said method further comprises determining whether said male human subject possesses the variant T allele of the p21E3+20 C/T polymorphism in the p21cip1 gene, wherein the presence of said variant T allele of said p21E3+20 C/T polymorphism is further indicative that said subject is pre-disposed to Alzheimer's disease.

13. The method of claim 2 , wherein said method further comprises determining whether said male human subject possesses the variant T allele of the p21E3+20 C/T polymorphism in the p21cip1 gene, wherein the presence of said variant T allele of said p21E3+20 C/T polymorphism is further diagnostic that said subject has Alzheimer's disease.

14. The method of claim 3 , wherein said method further comprises determining whether said male human subject possesses the variant T allele of the p21E3+20 C/T polymorphism in the p21cip1 gene, wherein the presence of said variant T allele of said p21E3+20 C/T polymorphism is further indicative that a genetic variation that contributes to the genetic basis for Alzheimer's disease is present in said subject.

Assignments (1)
CHANGE OF NAME Recorded Aug 2, 2016
From: ISIS INNOVATION LIMITED
To: OXFORD UNIVERSITY INNOVATION LIMITED
Reel/Frame 039550/0045 →