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Kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.1598delA mutation

A kit and disease technology, applied in the direction of DNA/RNA fragments, recombinant DNA technology, etc., can solve the problems of neurofibromatosis type 2 disease screening methods or kits that have not been reported, and achieve simple diagnosis methods and disease prevention Occurrence, direct effect of test results

Inactive Publication Date: 2015-09-02
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] No methods or kits have been reported to screen for neurofibromatosis type 2 disease at the genetic level

Method used

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  • Kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.1598delA mutation
  • Kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.1598delA mutation
  • Kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.1598delA mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0017] Example 1. Discovery of the NF2 gene mutation site c.1598delA associated with neurofibromatosis type 2 disease (Neurofibromastosis 2)

[0018] Patients with Neurofibbromastosis 2 were collected through neurosurgery outpatient clinics. On the premise that the patients and their families voluntarily signed the informed consent, 5-10ml blood samples were collected, and a database of inpatient medical records was established to record the patient's condition, family history and contact information in detail. Genomic DNA was then extracted by phenol-chloroform extraction method, quantified, stored at -20°C, and each copy of DNA accurately corresponded to the registered patient's clinical data. Primers were designed according to Primer Premier5.0, including the c.1598 site of NF2 gene and the sequences on both sides, for PCR amplification. The PCR products were directly sequenced, and the sequencing primers were the same as the PCR amplification primers, and the reverse seque...

Embodiment 2

[0020] Embodiment 2, the diagnostic kit for neurofibromatosis type 2 disease and its application

[0021] 1. Kit composition

[0022] Upstream primer: NF21598-F: 5'-CTGTGCCCTCCAGATGCGGTCT-3' (SEQ ID NO: 1);

[0023] Downstream primer: NF21598-R: 5'-CGCCAGCCTCCTCGCCAGTC-3' (SEQ ID NO: 2);

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

[0025] 10ul10mM dNTP mixture (Pharmacia),

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

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

[0028] 1ml of pure water (homemade).

[0029] 2. Kit application

[0030] (1) Diagnostic materials:

[0031] A total of 36 cases of Neurof ibromastosis2 disease patients and 6 cases of normal peripheral blood samples.

[0032] Patients with Neurofibbromastosis 2 were collected through neurosurgery outpatient clinics. On the premise that the patients and their families voluntarily signed the informed consent, 5-10ml blood samples were collected, and a database of inp...

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Abstract

The invention discloses a kit for external detection of Neurofibromastosis 2 disease causative gene NF2 c.1598delA 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.1598delA mutation and proves a relationship of the mutation site and the Neurofibromastosis 2 disease. The invention further designs the primers for detecting the mutation site and discloses a use of the primers in diagnosis of the Neurofibromastosis 2 disease. Through prenatal screening and neonatal NF2 gene mutation screening, a birth rate of the children suffering from the NF2 disease is reduced, disease is prevented and social pressure is greatly reduced.

Description

technical field [0001] The invention relates to a kit for detecting NF2 gene c.1598delA mutation, which can be used for auxiliary diagnosis and new drug development of the disease, and belongs to the field of biotechnology. Background technique [0002] Neurofibromatosis type 2 (NF2) is an autosomal genetic disorder characterized by bilateral acoustic neuromas ( 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 brain or spinal canal, they cause nerve or brain tissue compression, causing a series of severe symptoms, mainly including hearing loss, vision loss, muscle weakness in limbs, facial sensation loss, and eyelid closure Insufficiency, loss of gag reflex, subcutaneous nodules, etc. The incidence of NF2 is high, about 1 / 25000, and the spontaneous mutation rate is high, with a penetrance rate of 100%. Due to the diverse phenotypes of ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
Inventor 张俊廷郝淑煜冯洁薛湛李达吴震王亮张力伟
Owner BEIJING TIANTAN HOSPITAL AFFILIATED TO CAPITAL MEDICAL UNIV
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