The invention belongs to the technical field of
biology, and particularly relates to a molecular combination probe for diagnosing and screening
chromosome microdeletion syndrome. The molecular combination probe is used for selecting the key
gene of the Williams syndrome, the 22q11 microdeletion syndrome, the Prader-Willi syndrome, the
Angelman syndrome, the 15q13.3 microdeletion syndrome and the
Rett syndrome, or the
gene within a critical area, or the gens arranged at two ends within a duplication / deletion fragment, selecting the sequence which meets a corresponding condition as a probe sequence according to the sequence of the
gene, and adding a general primer sequence and adding a
phosphorylation mark to the 5'end of a probe left-half sequence and the 3'end of a right-half probe to prepare the combination probe for the multiple continuous probe amplification technology. According to the combination probe provided by the invention, the defects of the fluorescent quantitative PCR (
polymerase chain reaction) can be overcome, a plurality of sequences can be analyzed for once, and the molecular combination probe is higher in resolution ratio, sensitivity and
repeatability. The probe can be used for the clinical molecular diagnosing and screening of the six-
chromosome microdeletion syndrome.