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MFSD2B mutant gene and detection method thereof

A mutated gene and detection method technology, applied in the field of medical molecular biology, can solve unseen problems and achieve the effect of improving curative effect and reducing recurrence and metastasis

Inactive Publication Date: 2020-06-12
黄明水
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

At present, only a few independent studies have shown that the expression of MFSD2B gene in liver cancer cells is related to the degree of differentiation of liver cancer, but there is no relevant in-depth research report in T-LBL / T-ALL

Method used

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  • MFSD2B mutant gene and detection method thereof
  • MFSD2B mutant gene and detection method thereof
  • MFSD2B mutant gene and detection method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0020] Example 1 Discovery of Candidate Marker Genes for T-LBL / T-ALL Relapse and Metastasis

[0021] 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 adopted 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

[0030] Example 2 Verification and application of T-LBL / T-ALL recurrence and metastasis marker genes

[0031]Continue to collect 15 female patients diagnosed with T-LBL / T-ALL since 2016 (including 4 cases in Fujian, 3 cases in Guangdong, 3 cases in Zhejiang, 2 cases in Shandong, and 3 cases in Hebei; 9 cases of T-LBL, T-ALL - 6 cases of ALL; 1 patient was stage II, and the remaining 14 patients were stage III / IV patients; 10 patients had recurrence and metastasis, and 5 patients were non-relapse and metastasis), male T-LBL / T-ALL was diagnosed In 36 patients (as a reference), fresh biopsy tissue samples of tumor foci and adjacent tumors and peripheral venous blood (5ml, prepared serum) were collected for research under the condition that the patients had fully informed consent and did not affect clinical diagnosis and treatment. Genomic DNA and RNA of samples were extracted using the tissue genomic DNA and RNA extraction kits from Kaigen, Germany, according to the instructions. ...

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Abstract

The invention provides a g.[7817_7822delTCCGCA] mutation form of a human MFSD2B gene. A sequence of a fragment where mutation is located is shown as SEQ ID NO: 1. A female T-LBL / T-ALL patient with theMFSD2B gene subjected to g.[7817_7822delTCCGCA] mutation has a high recurrence and metastasis risk, and the higher the content of the mutant genes is, the higher the recurrence and metastasis risk is. 5'-CCCAATGTCCACACAGGGAA-3' and 5'-AAGGCTGGCGAGTGCCAAT-3' primers can be adopted to perform PCR amplification and mutation detection on a MFSD2B mutant gene fragment subjected to g.[7817_7822delTCCGCA] mutation. The g.[7817_7822delTCCGCA] mutation of the MFSD2B gene provided by the invention is helpful to predict the recurrence and metastasis risk of the female T-LBL / T-ALL patient so that a corresponding individualized scheme can be formulated to intervene and treat as soon as possible; and meanwhile, exploration of a female T-LBL / T-ALL recurrence and metastasis mechanism is also facilitated.

Description

technical field [0001] The invention relates to the field of medical molecular biology, in particular to a MFSD2B mutation gene with g.[7817_7822delTCCGCA] mutation, g.[7826insACGA] mutation and g.[7948insGC] 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...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/6886
CPCC07K14/47C12Q1/6886C12Q2600/156C12Q2600/166
Inventor 黄明水其他发明人请求不公开姓名
Owner 黄明水
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