Method and system for determining individual gene mutation

An individual and genetic technology, applied in the field of determining individual gene mutations, can solve the problems of repeated sample consumption, large demand, and limited guiding significance, and achieve reduced sample volume and sequencing costs, reliable tumor genetic information, accurate and fast typing Effect

Inactive Publication Date: 2016-03-23
SHENZHEN HUADA GENE INST
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  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

This technology allows researchers to extract specific parts (DNA) called DNA fragments - which are important biomarker sequences found within entire organisms' cells – allowing them to identify abnormalities caused during various stages of development such as cell division. By analyzing these segments alone, it becomes possible to detect inherited disorders like sickle cell syndrome without having enough sample material needed. Additionally, this method provides precise data on how well different types of malignancies develop based upon their particular characteristics.

Problems solved by technology

The technical problem addressed in this patented text relates to improving the accuracy and reliability of detecting specific DNA sequences associated with diseases like lung carcinoma or breast cancer from body fluids obtained during routine medical examinings without requiring expensive equipment.

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  • Method and system for determining individual gene mutation
  • Method and system for determining individual gene mutation
  • Method and system for determining individual gene mutation

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Embodiment 1

[0292] (1) Tumor patient T30, diagnosed as hepatic differentiated cholangiocarcinoma, DNA and RNA were extracted from paraffin section of tumor tissue and frozen blood (normal tissue) of tumor patient T30, and passed the test.

[0293] (2) Targeted gene sequencing by chip capture: A total of 434 genes with high sensitivity to treatment were selected from the tumor gene database and its gene capture chip (AgilentSureSelect) was designed, and these 434 genes were performed on the sample DNA obtained in step (1). The exon part of the gene and the fusion part of 21 genes were captured, and the obtained DNA fragment was built and sequenced at a depth of 500x by the Illumina Hiseq sequencing system. The sequencing volume of a single sample was about 4.4G.

[0294] a. 3μg DNA sample was broken into 200-300bp fragments and purified.

[0295] b. End-repair and end-adding "A" were performed on the fragmented samples and purified.

[0296] c. Ligate the product obtained in step b with t...

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Abstract

The invention discloses a method and system for determining individual gene mutation. The method includes the steps of firstly, obtaining a sicken tissue nucleic acid sample from sicken tissue of an individual, and taking normal tissue nucleic acid samples from normal tissue of the individual; secondly, conducting screening on the thicken tissue nucleic acid sample and the optional normal tissue nucleic acid sample through a probe, and establishing a sequencing library, wherein the probe specially recognizes a target gene related to a disease; thirdly, conducting sequencing on the sequencing library established in the second step so that the thicken tissue nucleic acid sequencing result and the optional normal tissue nucleic acid sequencing result can be obtained; fourthly, determining gene mutation related to the disease on the basis of the thicken tissue nucleic acid sequencing result. By means of the method, more gene information related to tumors can be obtained through a small number of samples, classification can be accurately and rapidly conducted on gene mutation related to the disease, and therefore the reliable individual disease especially tumor genetic information can be given.

Description

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Claims

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Application Information

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Owner SHENZHEN HUADA GENE INST
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