Patent ID: 9359644
Filing Date: 2016-06-07
CPC Classification: C12Q,G01N

Claim Text:
1. A method of identifying a genetic mutation in a human small integral membrane protein of the lysosome/late endosome (“SIMPLE”) gene in a human subject, said method comprising: (a) hybridizing a nucleic acid sequence of a coding region of a human small integral membrane protein of the lysosome/late endosome (“SIMPLE”) gene consisting of a coding portion of SEQ ID NO:1, or a naturally occurring sequence alteration thereof from a human subject with an oligonucleotide specific for a SIMPLE gene missense mutation, wherein the missense mutation alters the encoded amino acid sequence at a residue selected from the group consisting of amino acid residues 112, 115, and 116 of SEQ ID NO:2; and (b) detecting hybridization of the oligonucleotide with the nucleic acid sequence from the human subject; and (c) identifying a genetic mutation in the SIMPLE gene in the subject when hybridization is detected in step (b).