发明名称 |
ALTERED TYPE IX COLLAGEN GENE SEQUENCES ASSOCIATED WITH INTERVERTEBRAL DISC DISEASE |
摘要 |
<p>The invention relates to compositions, kits, and methods for detecting polymorphic alleles of the human genes encoding the alpha 2 and alpha 3 chains of type IX collagen (i.e. the <i>COL9A2</i> and <i>COL9A3</i> genes). The invention also includes compositions, kits, and methods for assessing whether a subject is afflicted with, or is predisposed to become afflicted with a disorder associated with the presence in the subject of an aberrant <i>COL9A2</i> and <i>COL9A3</i> gene, such as a <i>COL9A2</i> or <i>COL9A3</i> allele that encodes a collagen protein chain having a tryptophan residue substituted in place of a residue that is normally arginine or glutamine. The invention also includes methods of treating subjects afflicted with such disorders.</p> |
申请公布号 |
WO0136657(A3) |
申请公布日期 |
2001.10.04 |
申请号 |
WO2000US31527 |
申请日期 |
2000.11.17 |
申请人 |
PHILADELPHIA HEALTH &, EDUCATION CORPORATION;PROCKOP, DARWIN, J.;ALA-KOKKO, LEENA |
发明人 |
PROCKOP, DARWIN, J.;ALA-KOKKO, LEENA |
分类号 |
C07K14/78;C12Q1/68;(IPC1-7):C12P21/00;A61K38/17;C07K1/00;C07H21/02;C07K14/00 |
主分类号 |
C07K14/78 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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