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An SNP marker located in a DISC1FP1 gene and related to radiation induced brain injuries caused by radiotherapy and applications thereof

A radioactive brain injury and gene technology, applied in the fields of genetic engineering and oncology, can solve problems that have not been reported

Active Publication Date: 2018-11-06
SUN YAT SEN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] However, there are no reports on the genetics of radiation-induced brain injury

Method used

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  • An SNP marker located in a DISC1FP1 gene and related to radiation induced brain injuries caused by radiotherapy and applications thereof
  • An SNP marker located in a DISC1FP1 gene and related to radiation induced brain injuries caused by radiotherapy and applications thereof
  • An SNP marker located in a DISC1FP1 gene and related to radiation induced brain injuries caused by radiotherapy and applications thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0096] Example 1 Screening of SNP markers

[0097] 1. Collection of samples and collation of data

[0098] From 2002 to 2010, a large number of blood samples were collected from the Sun Yat-Sen University Cancer Hospital Biobank. After sorting out the sample information, 2942 samples that met the following criteria were selected for genome-wide microarray scanning and single SNP Taqman genotyping:

[0099] Inclusion criteria:

[0100] (1) Nasopharyngeal carcinoma patients with clear pathological diagnosis and clinical stage;

[0101] (2) The expected survival is greater than 6 months;

[0102] (3) Functional status score (KPS) ≥ 70 points;

[0103] (4) Age 18-80 years old;

[0104] (5) Have complete medical records (medical history, physical examination, related examinations, previous treatments);

[0105] (6) Complete radiation therapy and conduct regular MR image review;

[0106] (7) Participate voluntarily and sign the informed consent form.

[0107] At the same time, ...

Embodiment 2

[0131] Example 2 TaqMan (Applied Biosystems) genotyping detection of a single SNP

[0132] The site rs10501719 associated with radiation brain injury found in Example 1 through genome-wide scanning was detected in two verification populations, including 1119 and 741 patients with nasopharyngeal carcinoma, including 177 patients with radiation brain injury cases and 261 cases. These samples were tested by Taqman genotyping.

[0133] 1. The specific steps are:

[0134] (1) Collect 3 mL of peripheral venous blood with an EDTA anticoagulant tube, centrifuge at 3500 r / min for 10 minutes, and then aspirate the plasma.

[0135] (2) Remove red blood cells: add an equal volume of red blood cell lysate (10 mmol / L TrispH7.6; 5 mmol / L MgCl 2 ; 10 mmol / L NaCl), mix well by inverting up and down, centrifuge at 4000r / min for 10 minutes, and discard the supernatant. Then add 5 mL of erythrocyte lysate, mix well by inverting up and down, centrifuge at 4000r / min for 10 minutes, and discard ...

Embodiment 3

[0158] Example 3 Kit for Predicting the Risk of Radiation Brain Injury Caused by Tumor Radiotherapy

[0159] The production and operation process of the kit for predicting the risk of radiation-induced brain injury caused by tumor radiotherapy is based on the Taqman (Applied Biosystems) genotyping detection technology.

[0160] 1. The kit contains a pair of SNP-specific amplification primers (the nucleotide sequence of the rs10501719-specific amplification primer is shown in SEQ ID No: 1-2), and a specific probe (the rs10501719-specific probe’s Nucleotide sequence such as SEQID No: 3-4). It also includes common reagents required by the corresponding PCR technology, such as: dNTP Mixture, MgCl 2 , double distilled water, reaction enzyme, reaction buffer; in addition, it also contains labeling products and controls (standard products and blank controls for genotype determination).

[0161] See Table 3 for specific primers and specific probe information.

[0162] Table 3. SNP-...

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Abstract

The present invention discloses an application, of an SNP site rs10501719 on a DISC1FP1 gene, as a marker associated with the risk of radiation induced brain injuries caused by tumor radiotherapy. A kit for predicting the risk of radiation induced brain injuries caused by tumor radiotherapy is prepared. The kit can be used to detect SNP marker typing, and clinical information of patients can be combined to more comprehensively and accurately assess the risk of occurrence of radiation induced brain injuries in patients with nasopharyngeal carcinoma. The kit is applied to clinical practice, andprotective measures are taken in advance for high-risk patients, thus facilitating individualized treatment of patients and improving long-term quality of life of patients with nasopharyngeal carcinoma. In addition, a methodological and strategic reference for risk prediction of normal tissue injuries caused by other radiotherapy can be provided.

Description

technical field [0001] The present invention relates to the technical field of genetic engineering and oncology, more specifically, relates to a DISC1FP1 Genetic SNP markers associated with radiotherapy-induced radiation-induced brain injury and their application. Background technique [0002] Radiotherapy is the preferred treatment for nasopharyngeal carcinoma, and radiation-induced brain injury is one of the most serious late adverse reactions in patients with nasopharyngeal carcinoma. This adverse reaction is often irreversible, and its clinical symptoms include dizziness, headache, memory loss, cognitive dysfunction, etc., which greatly affect the quality of life of patients. Once radiation-induced brain injury occurs, treatment is quite difficult. Clinically, hormones, gangliosides or citicoline and other drugs are generally given, or hyperbaric oxygen or surgical treatment. In recent years, it has been found that bevacizumab and nerve growth factor also have certain ...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 贾卫华王曈旻沈国平
Owner SUN YAT SEN UNIV
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