| 发明名称 | Methods of detecting amyotrophic lateral sclerosis (ALS) | ||
| 摘要 | In one aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising detecting one or more alterations in a profilin 1 (PFN1) sequence of an individual in need thereof compared to a wild type profilin sequence. In another aspect, the invention is directed to a method of identifying an individual that has amyotrophic lateral sclerosis (ALS) or is at risk of developing ALS comprising selectively sequencing a profilin 1 (PFN1) sequence of an individual in need thereof; and detecting one or more alterations in the PFN1 sequence of the individual. If the one or more alterations are detected then the individual has ALS. | ||
| 申请公布号 | US8753818(B1) | 申请公布日期 | 2014.06.17 |
| 申请号 | US201313833898 | 申请日期 | 2013.03.15 |
| 申请人 | The University of Massachusetts | 发明人 | Landers John E.;Brown Robert H. |
| 分类号 | C12Q1/68 | 主分类号 | C12Q1/68 |
| 代理机构 | Hamilton, Brook, Smith & Reynolds, P.C. | 代理人 | Hamilton, Brook, Smith & Reynolds, P.C. |
| 主权项 | 1. A method of identifying an individual that has amyotrophic lateral sclerosis (ALS), or is at risk of developing ALS, comprising: a) selectively sequencing a profilin 1 (PFN1) gene sequence in a sample of an individual in need thereof; and b) detecting one or more alterations in the PFN1 gene sequence of the individual compared to a wild type PFN1 gene sequence, wherein the one or more alterations results in the PFN1 gene sequence encoding a PFN1 protein having a C71G alteration, a M114T alteration, a G118V alteration, an E117G alteration or a combination thereof, wherein if the one or more alterations are detected then the individual has ALS. | ||
| 地址 | Boston MA US | ||