Patent ID: 8637236
Filing Date: 2014-01-28
Classification: A61K,C07K,C12Q,G01N,H05K

Abstract:
1. A method of detecting Rett syndrome that is associated with a point mutation in the human MECP2 gene, comprising detecting the presence or absence of a point mutation which disrupts the initiation codon in exon 1 of a nucleic acid sequence encoding the MeCP2E1 protein having the amino acid sequence of SEQ ID NO.: 4 in a sample obtained from a human by (i) amplifying the sample nucleic acid sequence with primers that amplify an adenine to guanine change at nucleotide position 8 of SEQ ID NO:1 and comparing the amplified sample nucleic acid sequence to a control nucleic acid sequence or (ii) detecting with a probe an adenine to guanine change at nucleotide position 8 of SEQ ID NO:1, wherein the presence of the mutation in the sample nucleic acid sequence indicates that the human has Rett syndrome.