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Microsatellite instability analysis method and device

A microsatellite instability and microsatellite stability technology, applied in sequence analysis, instrumentation, genomics, etc., can solve the problems of high cost and many experimental steps, and achieve high specificity, high analysis accuracy, and high sensitivity

Active Publication Date: 2020-10-16
SHENZHEN HAPLOX BIOTECH
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  • Claims
  • Application Information

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Problems solved by technology

[0005] The present invention mainly solves the problems existing in the prior art when microsatellite instability is detected, the need to re-collect clinical samples, high cost, many experimental steps, etc.

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  • Microsatellite instability analysis method and device
  • Microsatellite instability analysis method and device
  • Microsatellite instability analysis method and device

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Embodiment 1

[0152] HapOnco WESplus detection kit (specifically HapOnco TM WESPlus Tumor Whole Exome Gene Detection Kit, Shenzhen Hapros Biotechnology Co., Ltd.) detection samples were analyzed, including 22 cases of MSI-H samples and 577 cases of MSS samples. This method is compared with the commonly used NGS MSI analysis method MSIsensor ( Beifang Niu, Kai Ye, Qunyuan Zhang, Charles Lu, Mingchao Xie, Michael D. McLellan, Michael C. Wendl and Li Ding. MSI sensor: microsatellite instability detection using paired tu-mor-normal sequence data. Bioinformatics 30, 1015–1016 (2014)) In contrast, the detection sensitivity and specificity have significant advantages. Especially when the ratio of negative to positive samples is close to the positive ratio of MSI-H in real clinical samples (1-10%), this method can still maintain higher sensitivity and specificity than other NGS MSI analysis methods, and has a higher positive Predictive value.

[0153] This method is consistent with the gold stan...

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Abstract

The invention provides a microsatellite instability analysis method and device. The method comprises a data acquisition step, a microsatellite site primary screening step, a sample training step, a microsatellite site secondary screening step, a microsatellite site tertiary screening step and a microsatellite stability judgment step. According to the present invention, microsatellite sites can beselected based on the existing NGS detection data analysis result so as to directly analyze the MSI state of the sample, and the multiple microsatellite sites are used to analyze the MSI state, such that the defects of poor detection continuity and easy misjudgment of the PCR method are overcome.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a microsatellite instability analysis method and device. Background technique [0002] Microsatellite (Microsatellite) is a short tandem repeat sequence throughout the human genome, with mononucleotide, dinucleotide or polynucleotide repetitions, and the number of repetitions is 10-50 times or more. Compared with normal cells, the length of microsatellites in tumor cells is changed due to the insertion or deletion of repeat units, which is called microsatellite instability (MSI). A large number of studies have shown that MSI is caused by a defect in the mismatch repair (MMR) gene and is closely related to the occurrence of tumors. According to literature reports, MSI-H (microsatellite high instability) phenomenon exists in about 15% of colorectal cancers. Sex is different. In non-colorectal cancer solid tumors, there are also different proportions of MSI-H. Solid tumors with diff...

Claims

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Application Information

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IPC IPC(8): G16B20/30G16B25/20G16B30/00G16B40/00
CPCG16B20/30G16B25/20G16B30/00G16B40/00
Inventor 周衍庆陈实富王周阳
Owner SHENZHEN HAPLOX BIOTECH