发明名称 METHOD FOR EXAMINING CHROMOSOMAL FUNCTION ABNORMALITY USEFUL FOR DIAGNOSING GENETIC DISEASE
摘要 PROBLEM TO BE SOLVED: To provide a method for examining chromosomal function abnormality, which is useful for diagnosing any patient of Prader-Willi syndrome (non-deleted example) patient, Angelman syndrome (non-deleted example) patient, and X-chromosome inactivation syndrome patient, and is useful for diagnosing the genetic disease based on the chromosome without needing a step for converting DNA bases. SOLUTION: This method for examining the chromosomal function abnormality, which is useful for diagnosing the genetic disease, is characterized by judging the presence or absence of a prescribed genetic expression on a chromosome by RNA-FISH (fluorescence in situ hybridization) method and judging the chromosomal function abnormality on the basis of the judgment result. COPYRIGHT: (C)2005,JPO&NCIPI
申请公布号 JP2005124431(A) 申请公布日期 2005.05.19
申请号 JP20030361176 申请日期 2003.10.21
申请人 YAMANASHI TLO:KK 发明人 KUBOTA TAKEO;YAMAMORI TOSHIHARU;HOSOGAI NOBORU;NAKAMURA TAKASHI
分类号 G01N33/48;C12N15/09;C12Q1/68;(IPC1-7):C12N15/09 主分类号 G01N33/48
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