发明申请
WO2018136702A1 HYDROXYSTEROID 17-BETA DEHYDROGENASE 13 (HSD17B13) VARIANTS AND USES THEREOF
审中-公开
基本信息:
- 专利标题： HYDROXYSTEROID 17-BETA DEHYDROGENASE 13 (HSD17B13) VARIANTS AND USES THEREOF
- 申请号：PCT/US2018/014357 申请日：2018-01-19
- 公开(公告)号：WO2018136702A1 公开(公告)日：2018-07-26
- 发明人： ABUL-HUSN, Noura S. , GOTTESMAN, Omri , LI, Alexander , CHENG, Xiping , XIN, Yurong , GROMADA, Jesper , DEWEY, Frederick E. , BARAS, Aris , SHULDINER, Alan
- 申请人： REGENERON PHARMACEUTICALS, INC.
- 申请人地址： 777 Old Saw Mill River Road Tarrytown, New York 10591 US
- 专利权人： REGENERON PHARMACEUTICALS, INC.
- 当前专利权人： REGENERON PHARMACEUTICALS, INC.
- 当前专利权人地址： 777 Old Saw Mill River Road Tarrytown, New York 10591 US
- 代理机构： LEGAARD, Paul K.
- 优先权： US62/449,335 20170123; US62/472,972 20170317; US62/581,918 20171106
- 主分类号： C12Q1/6883
- IPC分类号： C12Q1/6883
摘要：
Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13 , and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B13 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.
IPC结构图谱:
| C | 化学；冶金 |
| --C12 | 生物化学；啤酒；烈性酒；果汁酒；醋；微生物学；酶学；突变或遗传工程 |
| ----C12Q | 包含酶或微生物的测定或检验方法；其所用的组合物或试纸；这种组合物的制备方法；在微生物学方法或酶学方法中的条件反应控制 |
| ------C12Q1/00 | 包含酶或微生物的测定或检验方法；其组合物；这种组合物的制备方法 |
| --------C12Q1/68 | .包括核酸 |
| ----------C12Q1/6813 | ..杂交分析 |
| ------------C12Q1/6883 | ...用于由遗传物质改变而引起的疾病 |