Complex monogenic disease detection and blocking method

Through nanopore methylation sequencing methods, sample gDNA is extracted and repaired and combined ligated, and a library is constructed for sequencing, and pathogenic mutations and methylation information is obtained, which solves the problem of diagnosis and blocking of complex single-gene diseases and achieves efficient diagnosis and blocking effects.

CN119709976APending Publication Date: 2025-03-28YIKON GENOMICS SHANGHAI CO LTD +1
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Patent Information

Application Number
CN202411848875.7
Authority / Receiving Office
CN · China
Patent Type
Applications(China)
Current Assignee / Owner
Filing Date
2024-12-16
Publication Date
2025-03-28

AI Technical Summary

Technical Problem

The prior art is difficult to effectively diagnose and block complex monogenetic diseases, especially due to read length limitations and technical limitations, and traditional methods are difficult to identify methylation information of complex mutation types and gene regions.

Method used

Using nanopore methylation sequencing methods, the whole genome or targeted sequencing is achieved by extracting sample gDNA, end repair and A, combining ligands with linkers, library construction and nanopore sequencing, and obtaining pathogenic mutations and methylation information to assist in the construction of haplotypes to achieve diagnosis and blockade.

Benefits of technology

This method can effectively improve the detection rate of pathogenic mutations of complex single-gene diseases, directly detect nucleic acid methylation modification information, provide more comprehensive and fidelity methylation site information, assist in the construction of haplotypes, and achieve accurate diagnosis and blockade of complex single-gene diseases.

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Abstract

The invention provides a complex monogenic disease detection and blocking method. The method comprises the following steps: extracting gDNA of a sample; repairing the tail end of the sample gDNA, and adding A to obtain A-added gDNA; connecting the A-added gDNA with a joint combination to obtain a connection product; adding the sample sequencing library of the obtained connection product into an Oxford nanopore sequencing chip, and carrying out whole genome sequencing or targeted sequencing on a machine; according to bioinformatics analysis, due to the fact that nanopore sequencing read length is long and can reach more than 100 times that of next-generation sequencing read length, various types of mutations including SNV, InDel and SV can be easily detected, the pathogenic mutation detection rate of complex monogenic diseases is effectively increased, methylation site information detected through nanopore sequencing is more comprehensive and fidelity, nucleic acid is not influenced, and the detection result is more accurate. The obtained methylation information can be used for assisting in constructing haplotypes.
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