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Human EZH2 mutant gene and application thereof

A mutation gene and gene technology, applied in the field of genetic detection and application, can solve the problems of low ctDNA content, fragmentation, unsuitability, etc., and achieve the effect of rapid and accurate mutation detection

Active Publication Date: 2017-12-29
FUJIAN MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

For prognosis prediction, starting from ctDNA samples to facilitate the establishment of non-invasive detection methods is the current clinical trend and hot spot. However, due to the low content of ctDNA and severe fragmentation, the traditional detection methods based on Sanger sequencing and real-time fluorescent quantitative PCR are not suitable. Suitable for

Method used

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  • Human EZH2 mutant gene and application thereof
  • Human EZH2 mutant gene and application thereof
  • Human EZH2 mutant gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0034] One case of gastric cancer patient (No. 1#) who was pathologically diagnosed in the hospital was selected. After signing the informed consent, two blood samples were collected during the treatment process, and gene capture and next-generation sequencing of ctDNA samples were performed. At the same time, The clinical treatment and condition evaluation information were collected, and finally a comprehensive analysis was performed (see Table 1 for details).

[0035] (1) Blood sample collection

[0036] Take 5ml of EDTA anticoagulant blood from the patient's cubital vein (see Table 1 for the time of blood collection), and separate plasma and monocytes within 1 hour. The plasma sample contains ctDNA, which can be used to reflect the information of the cancer focus, and the monocytes contain normal genomic DNA. for reference.

[0037] (2) Capture sequencing of EZH2 gene

[0038] The samples in (1) were sent to BGI Genomics on dry ice for gene capture and next-generation seq...

Embodiment 2

[0045] A patient with gastric cancer (No. 2#) who was pathologically diagnosed in the hospital was selected. After signing the informed consent, 3 blood samples were collected during the treatment process, and gene capture and next-generation sequencing of ctDNA samples were performed. At the same time, The clinical treatment and condition evaluation information were collected, and finally a comprehensive analysis was performed (see Table 2 for details). See embodiment 1 for the specific process.

[0046] The patient's previous blood sample (2015.6.16) detected the deletion of three thymine nucleotides at the 1236-1238 position of intron 19 of the EZH2 gene, that is, the [1236-1238delTTT] mutation (9 times detected) , corresponding to intron 19 sequence as shown in SEQ ID NO:1, this mutation belongs to the mutation at the 1234-1240 position, and the mutation frequency is as high as 52.63%; in addition, this blood sample (2015.6.16) also detected The deletion of four thymine n...

Embodiment 3

[0050] A patient with gastric cancer (No. 3#) who was pathologically diagnosed in the hospital was selected. After signing the informed consent, 3 blood samples were collected during the treatment process, and gene capture and next-generation sequencing of ctDNA samples were performed. At the same time, The clinical treatment and condition assessment information were collected, and finally a comprehensive analysis was performed (see Table 3 for details). See embodiment 1 for the specific process.

[0051] The patient's previous blood sample (2015.3.31) did not detect a mutation, but the middle blood sample (2015.5.15) detected the insertion of two thymine nucleotides at the 1234-1235 site of intron 19 of the EZH2 gene That is, [1234-1235insTT] mutation (detected twice), corresponding to the sequence of intron 19 as shown in SEQ ID NO: 5, this mutation belongs to the mutation at position 1234-1240, and the mutation frequency is as high as 50%; No mutation was detected in the l...

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Abstract

The invention provides human EZH2 mutant gene, a mutant gene detecting method and application in therapeutic effect evaluation of chemotherapy of a gastric cancer. The gastric cancer is the main cancer which always affects Chinese people and is easy to cause death, the therapeutic effect evaluation of chemotherapy of the gastric cancer mainly depends on an iconography means and serological indicators, but the iconography means and the serological indicators are poor in timeliness and low in specificity. Mutation of the EZH2 mutant gene occurs on a 1234 position to a 1240 position of a number 19 intron, and a preferable mutant gene sequence is as shown in SEQ ID NO: 1-4, and has not been reported; and basis and foundation can be provided for analysis of a gastric cancer development and progression mechanism, drug development and the like. In addition, the application of the EZH2 mutant gene and a detecting method thereof facilitate the therapeutic effect evaluation of chemotherapy of the gastric cancer and illness monitoring so as to guide formulation of a therapeutic schedule.

Description

technical field [0001] The invention belongs to the field of gene detection and application, and in particular relates to EZH2 mutation gene, detection of EZH2 mutation gene and its application in evaluating the curative effect of gastric cancer chemotherapy. Background technique [0002] Gastric cancer is the most common and most lethal major cancer in China, its incidence rate ranks second among malignant tumors, and its mortality rate ranks third. At present, the clinical evaluation of the efficacy of chemotherapy for gastric cancer mainly relies on imaging methods and serological indicators. However, imaging methods often have a certain lag, and sometimes cannot accurately reflect the molecular essence of the cancer focus; while serum markers such as CEA, CA72-4, and CA19-9 are generally not specific, and their monitoring is important for the prognosis and diagnosis of gastric cancer. Guidance is of limited value. [0003] EZH2 (Enhancer of Zeste Homolog 2) is a human ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/68
CPCC07K14/47C12Q1/6806C12Q1/6869C12Q1/6886C12Q2600/106C12Q2600/156C12Q2535/122
Inventor 黄志清陈强吴凡林欣林伟峰
Owner FUJIAN MEDICAL UNIV
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