| 发明名称 | Diagnosis of hereditary spastic paraplegias (HSP) by detection of a mutation in the KIAA1840 gene or protein | ||
| 摘要 | An ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP) in a subject is provided which comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein that mutation is indicative of an hereditary spastic paraplegias (HSP). | ||
| 申请公布号 | US9546402(B2) | 申请公布日期 | 2017.01.17 |
| 申请号 | US201414206840 | 申请日期 | 2014.03.12 |
| 申请人 | INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) | 发明人 | Azzedine Hamid;Brice Alexis;Stevanin Giovanni;Santorelli Filippo;Denora Paola |
| 分类号 | C07H21/04;C12Q1/68 | 主分类号 | C07H21/04 |
| 代理机构 | Stites & Harbison, PLLC | 代理人 | Schulman, Esq. B. Aaron;Stites & Harbison, PLLC |
| 主权项 | 1. A method for detecting the presence of a KIAA1840 nucleic acid mutation in a subject, which method comprises: (a) contacting a KIAA1840 nucleic acid from said subject with an oligonucleotide that specifically hybridizes to a KIAA1840 mutation, wherein said KIAA1840 nucleic acid is at least 90% identical to SEQ ID NO:1, and wherein said KIAA1840 mutation encodes a truncated form of the KIAA1840 protein, and (b) detecting hybridization of the oligonucleotide with said KIAA1840 nucleic acid from said subject, thereby detecting the presence of a KIAA1840 nucleic acid mutation in the subject. | ||
| 地址 | Paris FR | ||