Probe for measuring dynamically mutated short tandem repeat sites and design method and application thereof

By designing a probe covering dynamic mutation areas, the problem that second-generation sequencing technology is difficult to effectively cover and analyze dynamic mutation areas is solved, achieving higher analysis accuracy and lower detection costs.

CN119709987APending Publication Date: 2025-03-28HANGZHOU XIANGYIN MEDICAL LAB CO LTD
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Patent Information

Application Number
CN202411991537.9
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-12-31
Publication Date
2025-03-28

AI Technical Summary

Technical Problem

The existing second-generation sequencing technology is difficult to effectively cover and analyze dynamic mutation areas, resulting in insufficient accuracy of dynamic mutation analysis.

Method used

A probe for determining the site of a dynamic mutation short tandem repeat sequence is designed to improve the effective coverage of capture sequencing by covering the upstream and downstream flanking sequences and short tandem repeat sequences of the dynamic mutation region.

Benefits of technology

It improves coverage of dynamic mutation areas, enhances the accuracy of dynamic mutation analysis, and maintains the controllability of detection costs and experimental cycles.

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Abstract

The invention relates to the technical field of molecular biological detection. The invention provides a probe for determining a dynamic mutation short tandem repeat site and a design method thereof. The invention also provides application of the probe in preparation of a kit for detecting SCA subtype diseases. According to the technical scheme, the probe is used for capturing and sequencing, so that the effective coverage can be improved, a dynamic mutation region can be captured to the greatest extent, and the accuracy of subsequent dynamic mutation analysis is improved; meanwhile, the detection cost is not increased, and the experiment period is controllable.
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