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SPNS2 mutant gene with mutation at 571st site and detection method of SPNS2 mutant gene

A mutated gene and gene technology, applied in the field of SPNS2 mutated gene and mutated gene detection, can solve problems such as no in-depth research reports, and achieve the effect of improving curative effect and reducing recurrence and metastasis

Inactive Publication Date: 2020-05-08
黄明水
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Studies have shown that the expression of SPNS2 gene in colorectal cancer, gastric cancer and other cancers is related to its occurrence, development, proliferation and metastasis, but there are no relevant in-depth research reports on T-LBL / T-ALL

Method used

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  • SPNS2 mutant gene with mutation at 571st site and detection method of SPNS2 mutant gene
  • SPNS2 mutant gene with mutation at 571st site and detection method of SPNS2 mutant gene
  • SPNS2 mutant gene with mutation at 571st site and detection method of SPNS2 mutant gene

Examples

Experimental program
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Effect test

Embodiment 1

[0015] Example 1 Discovery of candidate marker genes for recurrence and metastasis of T-LBL / T-ALL

[0016] The applicant of the present invention firstly collected patients from Fujian Province (representative of the southern region) and Shandong Province (representative of the northern region), whose diagnosis and treatment took place between 2009 and 2014, who used conventional chemotherapy regimens (without hematopoietic stem cell transplantation) and had complete follow-up information. The paraffin tissue samples and their clinicopathological information of T-LBL / T-ALL cases, the specific information of 26 patients collected are shown in Table 1. Previous cases were selected because their clinical diagnosis and treatment had ended or came to an end temporarily, so that retrospective exploration could be carried out under the condition of knowing the clinical diagnosis and treatment process and outcome. The required samples can be paraffin tissue samples, namely FFPE samples...

Embodiment 2

[0025] Example 2 Verification and application of T-LBL / T-ALL recurrence and metastasis marker genes

[0026] Continue to collect a total of 36 male patients with T-LBL / T-ALL confirmed since 2016 in the three southern provinces including Fujian, Guangdong and Zhejiang, and the three northern provinces including Shandong, Hebei and Liaoning (6 cases in each province, Among them, there are 3 cases of T-LBL and 3 cases of T-ALL, all of which are stage III / IV patients), and a total of 15 cases of female patients with T-LBL / T-ALL confirmed (as a reference). Fresh biopsy samples of tumor foci and adjacent tumors were collected from the cases of the patients, and the cases in the northern provinces were used as controls. Genomic DNA and RNA of samples were extracted using the tissue genomic DNA and RNA extraction kits from Kaigen, Germany, according to the instructions. Design PCR primers to amplify the fragments where the g.[552insTTGA] mutation and g.[571insTGCTATA] mutation of the...

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Abstract

The invention provides a g.[571insTGCTATA] mutant form of a human SPNS2 gene. The sequence of a fragment where mutation is located is shown as SEQ ID NO: 2. A southern male T-ALL patient with g.[571insTGCTATA] mutation of the SPNS2 gene has a high recurrence and metastasis risk, and the higher the content of the mutant gene is, the higher the recurrence and metastasis risk is. A 5'-AACGTGCTCAACTACCTGGA-3' primer and a 5'-ACAAC GGATG GGCCG TCAA-3' primer can be adopted to carry out PCR amplification and mutation detection on an SPNS2 mutant gene segment where the g.[571insTGCTATA] mutation occurs. The g.[571insTGCTATA] mutation of the SPNS2 gene provided by the invention is helpful for predicting the recurrence and metastasis risk of the southern male T-ALL patient, so that a correspondingindividualized scheme can be formulated for intervention and treatment as soon as possible; and meanwhile, the method is also helpful for exploring the recurrence and metastasis mechanism of the southern male T-ALL patient.

Description

technical field [0001] The invention relates to the field of medical molecular biology, in particular to a SPNS2 mutation gene with g.[552insTTGA] mutation and g.[571insTGCTATA] mutation and a detection method for the mutation gene. Background technique [0002] T-cell lymphoblastic lymphoma (T-LBL) and T-cell acute lymphoblastic leukemia (T-ALL) are malignant tumors that originate from immature precursor T lymphocytes. Tumors, and they are very similar in clinical manifestations and prognosis and related biological characteristics (including cell morphology, immunophenotype, genotype and cytogenetics, etc.), so the 2008 WHO diagnostic criteria put T-LBL and T-ALL is classified as the same type of disease. Its cancer cells often invade the mediastinum, bone marrow, central nervous system and lymph nodes. If the content of primitive and immature lymphocytes in the bone marrow is ≥25%, it is diagnosed as T-ALL, while <25% or the bone marrow is not involved. The diagnosis i...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/12
CPCC07K14/47C12Q1/6886C12Q2600/118C12Q2600/156
Inventor 黄明水其他发明人请求不公开姓名
Owner 黄明水