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1. WO2002020847 - GENE AND SEQUENCE VARIATION ASSOCIATED WITH LIPID DISORDER

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[ EN ]

CLAIMS:

1. An isolated polynucleotide comprising a polynucleotide sequence selected from the group consisting of:

(a) a sequence variation of SEQ ID NO: 1, wherein said variation is associated with a lipid disorder;

(b) a complementary sequence of (a);

(c) a polynucleotide sequence having at least 65% sequence identity to sequence of (a); and

(d) a complementary sequence of (c).

2. An isolated polynucleotide comprising a sequence variation of SEQ ID NO: 2 or its complementary sequence, wherein said variation is associated with a lipid disorder.

3. An isolated polynucleotide comprising a polynucleotide sequence selected from the group consisting of:

(a) a sequence variation of SEQ ID NO: 4, wherein said variation is associated with a lipid disorder;

(b) a complementary sequence of (a);

(c) a polynucleotide sequence having at least 65% sequence identity to sequence of (a); and

(d) a complementary sequence of (c).

4. The polynucleotide of claim 1 or 3 wherein said variation is a mutation.

5. The polynucleotide of claim 1 or 3 wherein said variation is a polymorphism.

6. An isolated polypeptide comprising an amino acid sequence selected from the group consisting of:

(a) a variant form of SEQ ID NO: 3, wherein said variant form is associated with a lipid disorder; and

(b) an amino acid sequence having at least 65% sequence identity to sequence of (a).

7. An isolated polypeptide comprising an amino acid sequence selected from the group consisting of:

(a) a variant form of SEQ ID NO: 5, wherein said variant form is associated with a lipid disorder; and

(b) an amino acid sequence having at least 65% sequence identity to sequence of

(a).

8. An isolated polynucleotide having at least 12 contiguous nucleotides of the polynucleotides of claim 1 or 3 wherein said 12 contiguous nucleotides span said variation position.

9. An isolated polypeptide having at least four contiguous amino acids of the polypeptides of claim 6 or 7 wherein said four contiguous amino acids span said variant position.

10. A polynucleotide specific for the HYPLIP1 locus wherein said polynucleotide hybridizes, under stringent conditions, to at least 12 contiguous nucleotides of the polynucleotide of claim 1 or 2.

11. The polynucleotide according to claim 10 wherein said polynucleotide is selected from the group consisting of SEQ ID NOs: 23-406.

12. A polynucleotide specific for the FCHL1 locus wherein said polynucleotide that hybridizes, under stringent conditions, to at least 12 contiguous nucleotides of the polynucleotide of claim 3.

13. The polynucleotide of claim 12 wherein said polynucleotide is selected from the group consisting of SEQ ID NOs: 6-22.

14. A kit for the detection of the FCHL1 locus comprising a polynucleotide of claim 12 and instructions relating to detection.

15. An isolated antibody which is immunoreactive to the polypeptide of claim 6 or 7.

16. A method for analyzing a biomolecule in a sample, wherein said method comprising:

(a) altering HYPLIP1 or FCHL1 activity in a sample; and

(b) measuring the concentration of a lipid-associated biomolecule.

17. A method for analyzing a polynucleotide in a sample comprising the steps of:

(a) contacting a polynucleotide in a sample with a probe wherein said probe hybridizes to the polynucleotides of claim 1 or 3 to form a hybridization complex; and

(b) detecting the hybridization complex.

18. A method for analyzing the expression of FCHL1 comprising the steps of

(a) contacting a sample with a probe wherein said probe comprises the

polynucleotide of claim 12; and

(b) detecting the expression of FCHL1 mRNA transcript in said sample.

19. A method for identifying susceptibility to a lipid disorder which comprises comparing the nucleotide sequence of the suspected FCHL1 allele with a wild-type FCHL1 nucleotide sequence, wherein said difference between the suspected allele and the wild-type sequence identifies a sequence variation of FCHL1 nucleotide sequence.

20. An expression vector comprising the polynucleotide of claim 1 or 3.

21. A host cell comprising the expression vector of claim 20.

22. A method of producing a polypeptide comprising culturing the host cells of claim 21 and recovering the polypeptide from the host cell.

23. A pharmaceutical composition comprising

(a) the polynucleotide of claim 3, the polypeptide of claim 7, or an isolated antibody which is immunoreactive to the polypeptide of claim 7; and

(b) a suitable pharmaceutical carrier.

24. A method for freating or preventing a lipid disorder associated with expression of FCHL1, wherein said method comprising administering to a subject an effective amount of the pharmaceutical composition of claim 23.