| 摘要 |
Detecting the presence of or predisposition to obesity or an associated metabolic disorder in a subject comprises providing a sample from the subject and detecting the presence of an alteration in the PPYR1 gene locus in the sample, the alteration being selected from SNP 67, SNP 118, SNP 160, SNP 195, SNP 295, SNP 588, SNP 691, SNP 715, SNP 716, SNP 718, SNP 739, SNP 826, SNP 860, SNP 897, SNP 948, SNP 1029, SNP 1047 or their combinations. Independent claims are also included for the following: (1) a method of assessing the response of a subject to a treatment of obesity or an associated metabolic disorder, comprising providing a sample from the subject and detecting the presence of the alteration in the PPYR1 gene locus in the sample; (2) a purified or isolated PPYR1 polypeptide, or its fragment, comprising at least one of the following amino acid mutations: Ser23, Met40, Met54, Trp239, Glu239, Met247, Met276, Pro287 and Arg343; (3) an isolated or recombinant PPYR1 gene, or its fragment, comprising a nucleotide T at position 152 or 800; a nucleotide A at position 203, 245, 801, 824, 911 or 1114; and/or a nucleotide C at position 945 of a sequence of 1673 bp (S1) fully defined in the specification, or their combinations; (4) a vector comprising a nucleic acid encoding the PPYR1 polypeptide; (5) a recombinant host cell comprising the vector or PPYR1 gene; (6) a pharmaceutical composition comprising the above PPYR1 polypeptide, nucleic acid encoding the PPYR1 polypeptide, the vector or the recombinant host cell, and a pharmaceutical carrier or vehicle; (7) a nucleic acid probe, where the nucleic acid is complementary to and specifically hybridizes with a nucleotide T at position 152 or 800; a nucleotide A at position 203, 245, 801, 824, 911 or 1114; and/or a nucleotide C at position 945 of S1; (8) a nucleic acid primer, where the primer is complementary to and hybridizes specifically to a portion of the PPYR1 gene or RNA, where the portion comprises a nucleotide T at position 152 or 800; a nucleotide A at position 203, 245, 801, 824, 911 or 1114; and/or a nucleotide C at position 945 of S1; (9) an antibody that is specific for an altered PPYR1 polypeptide or epitope comprising the above-mentioned amino acid mutations; (10) a product comprising the above nucleic acid probe, or the antibody, immobilized on a substrate; (11) a kit comprising the above nucleic acid probe or primer, or the antibody, and reagents or a protocol for performing a hybridization, amplification or an antigen-antibody immune reaction; and (12) a method of selecting biologically active compounds, comprising contacting a recombinant host cell expressing the PPYR1 polypeptide cited above with a test compound, and determining the ability of the test compound to bind the PPYR1 polypeptide at the surface of the cells and/or to modulate the activity of PPYR1 polypeptide. ACTIVITY : Anorectic; Cardiant; Vasotropic; Antilipemic; Antidiabetic; Hypotensive. No biological data given. MECHANISM OF ACTION : Gene therapy. |
