A kit for in vitro detection of the c.602deltg mutation of the neurofibromastosis 2 disease-causing gene NF2

A kit and disease technology are applied in the field of kits for detecting c.602delTG mutation of NF2 gene, which can solve the problems of NF2 disease screening methods or kits that have not been reported, and achieve simple diagnostic methods, ease social pressure, and detect direct result

Inactive Publication Date: 2020-06-19
BEIJING TIANTAN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] Currently, there is no report on methods or kits for screening NF2 diseases at the genetic level

Method used

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  • A kit for in vitro detection of the c.602deltg mutation of the neurofibromastosis 2 disease-causing gene NF2
  • A kit for in vitro detection of the c.602deltg mutation of the neurofibromastosis 2 disease-causing gene NF2
  • A kit for in vitro detection of the c.602deltg mutation of the neurofibromastosis 2 disease-causing gene NF2

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1. Discovery of c.602delTG at NF2 gene mutation site related to neurofibromatosis type 2 disease

[0018] Collect NF2 patients through the neurosurgery outpatient department. After the patients and their families sign the informed consent form voluntarily, 5-10ml blood samples are collected to establish an inpatient medical record database to record the patient's condition, the incidence of the family and the contact information in detail. Then, phenol-chloroform extraction method was used to extract genomic DNA, quantified, stored in the warehouse, and stored at -20°C. Each piece of DNA accurately corresponds to the clinical data of the registered patient. Design primers according to Primer Premier5.0, including NF2 gene 602 site and both sides of the sequence, for PCR amplification. The PCR products are directly sequenced. The sequencing primers are the same as the PCR amplification primers, and the ABI 3730 DNA sequencer is used for reverse sequencing. Align th...

Embodiment 2

[0020] Example 2. Diagnostic kit for NF2 type disease and its application

[0021] 1. Kit composition

[0022] Upstream primer: NF2602-F: 5'-CCTTCCCCATTGGTTTGTTATTG-3' (SEQ ID NO: 1);

[0023] Downstream primer: NF2602-R: 5'-CCAGGGCCAGCAGCAGTCTAATC-3' (SEQ ID NO: 2);

[0024] 50ul 10X PCR buffer (Pharmacia),

[0025] 10ul 10mM dNTP mixture (Pharmacia),

[0026] 5ul (5unit / ul) Taq DNA polymerase (Takara),

[0027] Each 10ul (10pmol / ul) F1 (SEQ ID NO: 1) and R1 (SEQ ID NO: 2) primers,

[0028] 1ml pure water (homemade).

[0029] 2. Kit application

[0030] (1) Diagnostic materials:

[0031] Peripheral blood samples of 36 patients with NF2 disease and 6 normal persons.

[0032] Collect NF2 patients through the neurosurgery outpatient department. After the patients and their families sign the informed consent form voluntarily, 5-10ml blood samples are collected to establish an inpatient medical record database to record the patient's condition, the incidence of the family and the contact informati...

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PUM

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Abstract

The invention discloses a kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.602delTG mutation. The kit comprises a primer pair shown in the formulas of SEQ ID NO: 1 and SEQ ID NO: 2. The invention firstly discloses Neurofibromastosis 2 disease causative gene NF2 c.602delTG mutation and proves a relationship of the mutation site and the NF2 disease. The invention further designs the primers for detecting the mutation site and discloses a use of the primers in diagnosis of the NF2 disease. Through prenatal screening and neonatal NF2 gene mutation screening, a birth rate of the children suffering from the NF2 disease is reduced, behavior of the patients with the causative gene is guide, disease is prevented and social pressure is greatly reduced. The kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.602delTG mutation is necessary for disciplinary research and development.

Description

Technical field [0001] The invention relates to a kit for detecting the mutation of NF2 gene c.602delTG. The kit can be used for auxiliary diagnosis of the disease and new drug development, and belongs to the field of biotechnology. Background technique [0002] Neurofibromatosis type 2 disease (neurofibromatosis type 2, NF2) is an autosomal genetic disease, its main feature is bilateral acoustic neuroma ( figure 1 ), often accompanied by intracranial and intramedullary schwannoma, meningioma and ependymoma and other tumors. Most tumors are benign, but because these tumors are located in the skull or spinal canal and cause compression of nerves or brain tissue, they cause a series of serious symptoms, including hearing loss, vision loss, weakened limbs, decreased facial sensation, and closed eyes and faces Insufficiency, loss of pharyngeal reflex, subcutaneous nodules, etc., the incidence of NF2 is high, about 1 / 25 000, and the spontaneous mutation rate is high, and the penetranc...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6886
Inventor 张俊廷郝淑煜冯洁李达吴震王亮张力伟
Owner BEIJING TIANTAN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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