| 摘要 |
PROBLEM TO BE SOLVED: To provide a new simply, rapidly and readily practicable apparatus for diagnosing 22q11.2 deletion syndrome and Down's syndrome. SOLUTION: The 22q11.2 deletion syndrome can be diagnosed by determining the amount of UFDIL gene which is a responsible gene of the 22q11.2 deletion syndrome according to a TaqMan quantitative PCR method and examining the deletion thereof using the apparatus. The Down's syndrome can be diagnosed by determining the amount of S100β gene present on the chromosome 21 and examining the trisomy of the chromosome 21 using the apparatus. |
