Method for detecting or diagnosing moyamoya disease risk by detecting gene mutation

摘要

PPROBLEM TO BE SOLVED: To provide a method for e.g. gene examination specifying individuals tending to contract Moyamoya disease by gene diagnosis for the purpose of preventing cerebral stroke which may result in death by means of operation intervention or the like. PSOLUTION: The method for gene examination and a system for the gene examination each includes: detecting the presence/absence of p.R2883K mutation of RNF213 gene. The method or system can be conducted easily and swiftly with a plenty of specimens as compared with the cerebral angiography and MRI examination. A polynucleotide or oligonucleotide, and a primer for gene amplification comprising the same, are also provided. PCOPYRIGHT: (C)2011,JPO&INPIT