Patent ID: 9568484
Date: 2017-02-14
CPC Classifications: A61K,A61P,C07K,C12Q,G01N

Claim:
1. A method of detecting a mutation in the human MECP2 gene, comprising: (a) contacting an MECP2 nucleic acid in a human sample with a labeled oligonucleotide that hybridizes under stringent conditions to the sequence portion within the MECP2 nucleic acid comprising the mutation; and (b) detecting the hybridization of the labeled oligonucleotide with the MECP2 nucleic acid under stringent hybridization conditions, wherein detection of hybridization indicates that the mutation is present in the MECP2 nucleic acid; wherein the mutation is selected from the group consisting of: (i) a deletion of the nucleotide sequence GC at nucleotides −38 and −39 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1; and (ii) a deletion of the nucleotide sequence AG at nucleotides −19 and −20 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1.