The invention relates to the technical field of
microsatellite site detection, in particular to a method and
system for detecting the
instability state of a
microsatellite; and the method comprises the following steps: carrying out
DNA extraction, fragmentation treatment, terminal repair and joint connection on a cancerous
tissue sample; carrying out amplification, hybridization, capture, PCR amplification and purification to obtain a sequencing
library; and obtaining targeted capture
sequencing data of a
tumor tissue sample through second-generation computer sequencing, and carrying out
information analysis related to
microsatellite instability state detection according to an MSI model. Compared with the prior art, the genetic information of the
tumor tissue of the testee is obtained by adopting the current mature next-generation sequencing technology,
single tumor tissue analysis can be carried out, dependence on a
control sample is avoided, the limitation of microsatellite detectionis broken through, the method can be suitable for multiple
gene combinations, an MSI site probe does not need to be specially designed, and the applicability is high; moreover, the detection cost canbe saved, the method is efficient, systematic, economic, simple and convenient, and the detection sensitivity is improved.