Detection method and device of gene deletion mutation

Abstract

The invention discloses a detection method and a detection device of gene deletion mutation. The method comprises the following steps: sequencing exon libraries of a sample to be detected and a comparison sample to acquire sequencing data of the sample to be detected and the comparison sample; respectively calculating sequencing numbers of the sample to be detected and the comparison sample on all windows in a form of dividing the sequencing data into several windows to acquire first sequencing numbers of the sample to be detected and the comparison sample on all the windows; performing homogenization on the first sequencing numbers of the sample to be detected and the comparison sample on all the windows to acquire second sequencing numbers of the sample to be detected and the comparison sample on all windows; dividing the second sequencing number of the sample to be detected on the windows by a median which is acquired from the second sequencing number of the comparison sample on all the windows to acquire a specific value; performing gene deletion mutation in the windows if the specific value is smaller than a set value. According to the method, the median in the comparison sample is used as a comparison standard, and compared with an average value or a standard difference, false positive can be relatively easily differentiated, and the result is relatively accurate.

Description

technical field [0001] The invention relates to the field of gene mutation detection, in particular to a method and device for detecting gene mutation. Background technique [0002] The types of gene mutations include single nucleotide base mutations, fragment deletion mutations, or fragment repeat mutations. There are also many methods for detecting gene mutations in the prior art. Among them, the deletion mutation detection methods that can detect fragments include multiple ligation probe amplification. technology (MLPA), fluorescent quantitative PCR, Sanger sequencing and next-generation sequencing. [0003] The basic principle of MLPA is to hybridize the probe with the target sequence DNA, the specific connection of the probe, PCR amplification, the separation of the amplified product by capillary electrophoresis, data collection, and then use the analysis software to analyze the collected data and finally draw Conclusion: The basic principle of fluorescent quantitative...

AI Technical Summary

Problems solved by technology

[0005] The main purpose of the present invention is to provide a gene mutation detection method and device to improve the defects of complex detection methods, low throughput and low accuracy in the prior art

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