| 摘要 |
PROBLEM TO BE SOLVED: To provide a diagnostic technique for detecting CATCH22 syndrome by measuring the degree of gene expression simply, rapidly and inexpensively in comparison with the conventional techniques, for example, the FISH method and the CGH method. SOLUTION: The polynucleotide specimen including the base sequence of the exon 12 area in the UFD1L gene sequence given by the sequence No.1 (see the specification document of this invention) on the chromosome 22q11.2 is measured by the quantitative real time PCR detection technique whereby the defects in the base sequence are detected and the CATCH22 syndrome is detected and the oligonucleotide to be used as a probe or a primer for detecting the syndrome is provided. |
