Patent ID: 6924102
Filing Date: 2005-08-02
Classification: C12Q

Abstract:
1. A quantitative method for molecular diagnosis of spinal muscular atrophy (SMA) comprising: obtaining a sample from a human suspected of having SMA containing mRNA of survival motor neuron (SMN-mRNA) and the mRNA of human elongation factor 1-alpha (HUMEF1AB-mRNA) reverse transcribing the mRNA using primers consisting of SEQ ID NO:1 for the synthesis of cDNA from SMN-mRNA giving SMN-cDNA and consisting of SEQ ID NO:2 for the synthesis of cDNA from HUMEF1AB-mRNA giving HUMEF1AB-cDNA; amplifying the SMN-cDNA by PCR using primers consisting of SEQ ID NO:3 and SEQ ID NO:4 and the HUMEF1AB-cDNA by PCR using primers consisting of SEQ ID NO:5 and SEQ ID NO:6 immobilizing of the PCR products on a nylon membrane hybridizing the immobilized PCR products with radioactive measuring SMN-mRNA by means of BioImager device using the radioactive wherein the quantification of between 9 and 27 PSL/mm2 for exon 7 and between 6 and 15 PSL/mm2 for exon 8 is indicative of SMA disease.