Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis

开发了遗传病数据库和诊断支持程序（UR-DBMS，综合征诊断），并逐年更新。在网站（http：//pagerich.lab.u-ryuyu.ac.jp/）上公开了包含这些疾病的相关基因的数据库。此外，为了与支持计划相结合，使个人分子诊断系统更加充实，我们构建了FGD 1、MLL 2、CD 96、ASXL 1或自闭症谱系障碍基因的突变筛选板。

Database for genetic diseases and supporting program for the diagnosis (UR-DBMS, Syndrome Finder) were developed and renewed year-on-year. The database including responsible genes for the diseases was published to the web site (http://becomerich.lab.u-ryuyu.ac.jp/).In addition to the published database, we constructed mutation-screening plates for the genes, FGD1, MLL2, CD96, ASXL1, or genes for autism spectrum disorders to substantialize the system for personal molecular diagnosis in combination with the supporting program.