Method for diagnosing spinal muscular atrophy
US8067568B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 24, 2010 |
| Grant date | Nov 29, 2011 |
| Priority date | — |
| Expiry date | Oct 24, 2030 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY10S435/975
- WIPO fieldBiotechnology
- WIPO sectorChemistry
Abstract
A method for diagnosing spinal muscular atrophy is provided. The method includes providing a biological sample of a subject containing a nucleotide of SMN gene, amplifying SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8, labeling the fragments of the SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8 by a fluorescent primer to obtain fluorescence-labeled exon fragments, and analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis. If the SMN1/SMN2 ratios in exon 7 and 8 are different, it indicates that the subject is susceptible to spinal muscular atrophy. Additionally, if the peak of certain exon fragment appears crossed, it indicates an intragenic mutation in the exon.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.