Genetic polymorphisms in the microsomal triglyceride transfer protein promoter and uses thereof

• US 6,218,524 B1
• Filed: 09/15/1998
• Issued: 04/17/2001
• Est. Priority Date: 09/16/1997
• Status: Expired due to Term

• Current Assignee: Sequenom-Gemini Limited
• Original Assignee: Eurona Medical AB (Gemini Holdings Plc)
• Inventors: Karpe, Fredrik
• Primary Examiner(s): Zitomer, Stephanie W.
• Assistant Examiner(s): WILDER, CYNTHIA B
• Application Number:
  US09/153,555
• Time in Patent Office: 945 Days
• Field of Search: 536/23.1, 536/24.3, 536/24.31, 435/320.1, 435/2, 435/6
• US Class Current: 536/23.1
• 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 and compositions for determining a patient'"'"'s predisposition towards developing cardiovascular diseases, which comprises identifying the allelic pattern of genes encoding microsomal triglyceride transfer protein (MTP) and comparing the MTP alleic pattern of said patient with the corresponding allelic patterns of humans with no clinical indicators of cardiovascular disease. The invention also provides isolated nucleic acids encoding MTP promoter varients, including probes and methods for using the isolated nucleic acids for detecting these polymorphisms in individuals.

Claims

1. An isolated nucleic acid comprising the sequence set forth in SEQ. ID NO:

1, wherein said sequence comprises nucleotides selected from the group consisting of;

a T residue at position 92;

a G residue at position 175;

a T residue at position 185;

a G residue at position 197; and

combinations of the foregoing residues at said positions.

2. An isolated nucleic acid as defined in claim 1, wherein said nucleic acid is DNA.

3. An isolated nucleic acid as defined in claim 1, wherein said nucleic acid is RNA.

4. A recombinant DNA vector comprising a nucleic acid as defined in claim 1.

5. A probe which hybridizes under high stringency conditions to the sequence set forth in SEQ ID NO:

1.

6. A library of nucleic acids, each of which comprises one or more polymorphic positions within the promoter sequence of human MTP gene, wherein said polymorphic positions are selected from the group consisting of positions in the MTP promoter region numbered 92, 175, 185 and 197.

7. An isolated nucleic acid comprising 10 to 100 base pairs from the human gene encoding MTP, wherein said nucleic acid comprises a polymorphic position selected from the group consisting of a position in the promoter region numbered 92, 175, 185 and 197 in SEQ ID NO:

1.