The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Nov. 29, 2011
Filed:
Oct. 24, 2010
Shou-mei Wu, Kaohsiung, TW;
Chun-chiu Wang, Kaohsiung, TW;
Jan-gowth Chang, Kaohsiung, TW;
Yuh-jyh Jong, Kaohsiung, TW;
Shou-Mei Wu, Kaohsiung, TW;
Chun-Chiu Wang, Kaohsiung, TW;
Jan-Gowth Chang, Kaohsiung, TW;
Yuh-Jyh Jong, Kaohsiung, TW;
Kaohsiung Medical University, Kaohsiung, TW;
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, andby a universal multiplex PCR using the nucleotide as a template and the primers to obtain fragments of the SMN exons, and, labeling the fragments of the SMN exons, andby 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 exonandare 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.