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I type neurofibroma NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis and application thereof

A technology for stenosis of cerebral blood vessels and neurofibromas, applied in the field of disease diagnosis, can solve the problems of few and weak inhibition of RAS-signaling pathway, etc.

Inactive Publication Date: 2015-01-07
XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In 2006, Li et al. found that neurofibromin is a new negative regulator of the RAS-induced signaling pathway in primary vascular smooth muscle cells. Mutations in the Nf1 gene can lead to changes in the quality of neurofibromin and inhibit the RAS-signaling pathway. weakened, ras activity increased, leading to neurofibroma and vascular disease
Moreover, NF1 patients are often accompanied by a variety of diseases. In recent years, some high-impact articles mainly focusing on animal experiments have suggested that there may be a causal relationship between the Nf1 gene and the occurrence of vascular diseases, but the relationship between Nf1 gene mutation sites and cerebrovascular diseases very little research

Method used

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  • I type neurofibroma NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis and application thereof
  • I type neurofibroma NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis and application thereof
  • I type neurofibroma NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0040] Example 1 Family analysis of neurofibromatosis type Ⅰ complicated with cerebrovascular stenosis

[0041] 1 Objects and Methods

[0042] 1.1 Object

[0043] Proband (Ⅳ4, figure 1 ), male, 24 years old, 8 years ago due to a sudden increase in blood pressure and surgery for a large neurofibroma on the head, the physical examination found that the blood pressure was 180 / 100mmHg, and recently there was severe headache, nausea and vomiting with vision again due to no special trigger Ambiguity admission, blood pressure 210 / 135mmHg. Diagnosed with renovascular hypertension and neurofibroma, he was admitted to hospital. Ultrasound results after admission revealed renal artery stenosis and left MCA stenosis. In addition, the patient was of normal intelligence and had multiple intrarenal aneurysms (AN) and anterior communicating artery (ACOA) aneurysms. Other system checks were normal. There were multiple round or oval light brown spots with a diameter of about 1-2 cm on the...

Embodiment 2D

[0059] Example 2 DHPLC screening of Nf1 gene mutation in type Ⅰ neurofibromatosis family with cerebrovascular stenosis

[0060] Nf1 gene mutation in patients with variable and simple cerebral vascular stenosis

[0061] 1 Objects and methods

[0062] 1.1 Research object of Nf1 whole gene mutation screening

[0063] Nf1 full gene screening includes 13 cases of blood samples collected from families: see figure 1 6 patients with vascular disease (Ⅲ-4,Ⅲ-7,Ⅳ-2,Ⅳ-4,Ⅳ-5,Ⅴ-2; detection number: 1-6) and no neurofibromatosis in the family 7 cases (Ⅲ-2, Ⅲ-5, Ⅲ-6, Ⅳ-1, Ⅳ-3, Ⅳ-7, Ⅳ-8; detection number: 13-18) and 5 cases without other risk factors or underlying diseases Patients with simple cerebral vascular stenosis (test number 8-12).

[0064] Table 118 objects of Nf1 gene mutation screening

[0065]

[0066] 1.2 Denaturing high performance liquid chromatography (DHPLC), the flow chart is as follows Figure 4 shown.

[0067] 1.2.1 Sample preparation and pretreatment

[0068] DH...

Embodiment 3

[0090] Example 3 A kit for diagnosing cerebrovascular stenosis and its application

[0091] 1. Preparation of the kit:

[0092] 1. PCR primer design and synthesis (5pmol / μL):

[0093] 5'-GAAGGAAGTTAGAAGTTTGTGACA-3' (Primer 1)

[0094] 5'-CAATCGTATCCTTACCAGC CAT-3' (Primer 2)

[0095] 2. PCR reaction solution: double distilled water, 10×PCR buffer (TaKaRa), 25mM Mg 2+ , 10 mM dNTPs.

[0096] 3. Enzyme: Taq DNA polymerase (TaKaRa).

[0097] 2. Application in the diagnosis of cerebral vascular stenosis

[0098] 1. Collect blood samples and extract genomic DNA;

[0099] 2. Using the designed primers, carry out PCR amplification according to the following procedure:

[0100] 2.1. Preparation of PCR reaction system:

[0101]

[0102]

[0103] 2.2. Setting of PCR reaction conditions, that is, setting a program on the PCR thermal cycler, and performing amplification according to the conditions set by the program.

[0104] (1) Pre-denaturation at 94°C for 5 minutes; (2) ...

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PUM

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Abstract

The invention relates to an I type neurofibroma NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis and application thereof. Compared with a corresponding nucleotide sequence contained in NF1, the nucleotide sequence related to cerebrovascular stenosis, which is disclosed by the invention, is mutated at the following position: c.541C>T; the mutation position is started from a first base in a gene coding region of NF1; and the mutation causes a patient to suffer from cerebrovascular stenosis. Research finds that the nonsense mutation exists in all NF1 family patients suffering from cerebrovascular stenosis, but does not exist in normal people in the NF1 family. The mutational site can provide basis for establishing a similar clinical symptom cerebrovascular stenosis animal model and is further used for carrying out super early diagnosis and prevention on the sporadic potential cerebrovascular stenosis of NF1 patients.

Description

technical field [0001] The present invention relates to a nucleotide sequence related to cerebrovascular stenosis, in particular to a mutated nucleotide sequence related to cerebrovascular stenosis isolated from the NF1 gene of type I neurofibroma and its use in the diagnosis of cerebrovascular stenosis The application belongs to the field of disease diagnosis. Background technique [0002] Cerebral vascular stenosis is a common disease that endangers human health, and can lead to ischemic stroke with high disability rate and high fatality rate. Its pathogenesis is not completely clear, so that the prevention and treatment of cerebrovascular stenosis falls into a "bottleneck". At present, with the popularization of primary and secondary stroke prevention knowledge, the application of arterial stents, carotid endarterectomy, and extracranial artery bypass grafting, some patients' symptoms of cerebral ischemia have been relieved, and the disability rate, death rate The rate ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12N15/63C12N1/15C12N1/19C12N1/21C12N5/10C07K14/47C12Q1/68G01N33/68A01K67/00
Inventor 凌锋梁建涛霍丽蓉鲍遇海
Owner XUANWU HOSPITAL OF CAPITAL UNIV OF MEDICAL SCI
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