SINGLE NUCLEOTIDE POLYMORPHISM IN INTEGRATED DYSTONIA-RELATED METABOLISM TYPE GLUTAMIC ACID RECEPTOR GENE AND METHOD FOR IDENTIFYING THE SAME POLYMORPHISM

摘要

PROBLEM TO BE SOLVED: To provide a new single nucleotide polymorphism (SNP) related to integrated dystonia in an integrated dystonia-related metabolism type glutamic acid receptor 7 type gene and to provide a method for identifying the SNP.;SOLUTION: Polymorphism analysis is performed between a new SNP in the integrated dystonia-related metabolism type glutamic acid receptor 7 type gene (GRM7) and a well-known SNP (rs1569286). As a result, SNP in which basic cytosine (C) in which a base number of the gene is 506852 is substituted by basic guanine (G) has a significant relationship to the integrated dystonia. In other words, when allele frequency is compared between an affected group and a healthy group in each SNP, the allele frequency has a significant relationship (p=0.0099) to the integrated dystonia. When haplotype by two SNP is built and chain unbalanced analysis is carried out, the chain unbalanced analysis has a significant relationship (p=0.0069) to the integrated dystonia similarly.;COPYRIGHT: (C)2004,JPO