Patent ID: 7875432
Filing Date: 2011-01-25
Classification: C12Q,Y10S

Abstract:
1. A method for diagnosing spinal muscular atrophy, comprising: providing a biological sample comprising a nucleotide containing SMN gene, wherein the biological sample is obtained from a human subject; providing primers for SMN exons 1, 2a, 2b, 3, 4, 5, 6, 7, and 8; 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; analyzing the fluorescence-labeled exon fragments by a capillary electrophoresis; quantifying the fluorescence-labeled exon fragments according to a result of the capillary electrophoresis analysis; and calculating SMN1/SMN2 ratio in exon 7 and SMN1/SMN2 ratio in 8, respectively, wherein different SMN1/SMN2 ratios in exon 7 indicates that the human subject has spinal muscular atrophy.