SCA7 gene and methods of use

• US 6,514,755 B1
• Filed: 10/06/2000
• Issued: 02/04/2003
• Est. Priority Date: 08/18/1998
• Status: Expired due to Term

• Current Assignee: Regents of The University of Minnesota (University of Minnesota)
• Original Assignee: Regents of The University of Minnesota (University of Minnesota)
• Inventors: Koob, Michael D., Benzow, Kellie A., Ranum, Laura P. W., Mosely-Alldredge, Melinda L.
• Primary Examiner(s): WANG, ANDREW J
• Application Number:
  US09/684,843
• Time in Patent Office: 851 Days
• Field of Search: 536/23.1, 435/320.1, 435/325
• US Class Current: 435/320.1
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

The present invention provides diagnostic methods of identifying individuals at risk and not at risk of developing spinocerebellar ataxia type 7. The present invention also provides for methods for identifying expanded repeats, and the DNA flanking the expanded repeats, from genomic DNA.

Claims

1. An isolated nucleic acid molecule comprising SEQ ID NO:

10.

2. An isolated nucleic acid molecule comprising SEQ ID NO:

9 followed by a polyglutamine region.

3. An isolated nucleic acid molecule comprising SEQ ID NO:

13 followed by a polyglutamine region.

4. An isolated DNA fragment comprising bases 1-128 of SEQ ID NO:

1.

5. An isolated DNA fragment comprising bases 286-476 of SEQ ID NO:

1.

6. An isolated DNA fragment comprising bases 1-128 of SEQ ID NO:

1 in a vector.

7. An isolated DNA fragment comprising bases 1-128 of SEQ ID NO:

1 and further comprising a CAG repeat region.

8. An isolated recombinant vector comprising the nucleotides of SEQ ID NO:

1 operatively linked to heterologous vector sequences.

9. The isolated recombinant vector according to claim 8 wherein the vector is capable of expressing a polypeptide comprising amino acids 1 to 27 of SEQ ID NO:

11 followed by a polyglutamine repeat region.

11. An isolated host cell containing the vector of claim 8.

10. An isolated nucleic acid fragment encoding the polypeptide for spinocerebellar ataxia type 7, wherein the polypeptide comprises amino acids 1 to 27 of SEQ ID NO:

11 followed by a polyglutamine repeat region.

12. An isolated DNA fragment comprising bases 922-1002 of SEQ ID NO:

2.

13. An isolated DNA fragment comprising bases 1033-1864 of SEQ ID NO:

2.

14. An isolated DNA fragment comprising bases 922-1002 of SEQ ID NO:

2 in a vector.

15. An isolated DNA fragment comprising bases 922-1002 of SEQ ID NO:

2 and further comprising a CAG repeat region.

16. An isolated recombinant vector comprising the nucleotides of SEQ ID NO:

2 operatively linked to heterologous vector sequences.

17. The isolated recombinant vector according to claim 16 wherein the vector is capable of expressing a polypeptide comprising amino acids 1 to 27 of SEQ ID NO:

12 followed by a polyglutamine repeat region.

18. An isolated host cell containing the vector of claim 16.

20. The isolated recombinant vector according to claim 16, wherein the vector is selected from the group consisting of a replicable cloning vector and an expression vector.

19. An isolated nucleic acid fragment encoding the polypeptide for spinocerebellar ataxia type 7, wherein the polypeptide comprises amino acids 1 to 27 of SEQ ID NO:

12 followed by a polyglutamine repeat region.