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Autosomal dominant CCM2 gene mutant and application thereof

An autosomal, dominant technology, applied in the field of biomedicine, can solve the problem of no clear mutation hotspots, and achieve great clinical application value, easy detection, and high specificity

Pending Publication Date: 2021-11-09
天津市环湖医院
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although CCM2 gene detection is of great significance for the early diagnosis and genetic counseling of CCM, there are still a considerable number of unknown causative gene loci due to the different types of CCM2 gene mutations, wide distribution, and no clear mutation hotspots.

Method used

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  • Autosomal dominant CCM2 gene mutant and application thereof
  • Autosomal dominant CCM2 gene mutant and application thereof
  • Autosomal dominant CCM2 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0049] An autosomal dominant CCM2 gene mutant, the nucleotide sequence of the mutant is shown in SEQ ID NO: 2, and its nucleotide sequence is the same as that of the wild-type CCM2 (shown in SEQ ID NO: 1 ) compared with the c.331G>C mutation, specifically, the mutation site is the 331st nucleotide G mutation in the coding region of the CCM2 gene on human chromosome 7 to C (denoted as c.331G>C), which The overall location is at No. 45104104 of chromosome 7, which is a heterozygous mutation, which results in the replacement of the 111th amino acid encoded by CCM2 from alanine to proline (denoted as p.A111P).

[0050] In the present invention, by performing whole exome sequencing on a family of intracranial cavernous hemangioma, it is found that the CCM2 gene (c.331G>C, p.A111P) on human chromosome 7 is closely related to the family There is a significant correlation with the occurrence of CCM2 gene, and it is inferred that the CCM2 gene mutant (c.331G>C) can be used as a biomark...

Embodiment 2

[0057] The application of an autosomal dominant CCM2 gene mutant in the preparation of products for the diagnosis or treatment of familial intracranial cavernous hemangioma.

[0058] Furthermore, the products include diagnostic kits or preparations, which can be used to screen high-risk groups of familial intracranial cavernous hemangioma, and then provide genetic counseling and eugenic guidance.

[0059] The nucleotide sequence of the autosomal dominant CCM2 gene mutant is shown in SEQ ID NO: 2. The specific PCR upstream and downstream primers were designed by Beijing Jinzhun Gene Technology Co., Ltd. through Primer5, and Beijing Ruibo Xingke Biotechnology Co., Ltd. Synthesized by the company, the purity is PAGE grade, the synthesized primers are dissolved in RNase free H20, and the total concentration is 10 μM.

Embodiment 3

[0061] A kind of autosomal dominant CCM2 gene mutant diagnostic kit comprises: detect the specific sequencing primer of the mutation site of CCM2 gene, the nucleotide sequence of the upstream primer of described specific sequencing primer is 5'-TGAATCTGAAGGCAGTTCCAG-3' (as shown in SEQ ID NO:3), the nucleotide sequence of the downstream primer of the specific sequencing primer is 5'-CTGACCCCCTGACCTCCTGTA-3' (as shown in SEQ ID NO:4).

[0062] The diagnostic kit also includes:

[0063] 1). Genomic DNA extraction system;

[0064] Whole Blood Genomic DNA Extraction Kit (Beijing Biotech Biotechnology Co., Ltd., AU1802)

[0065] 2).PCR system;

[0066] Phanta Max Super-Fidelity DNA Polymerase (1U / μL) 0.5μL,

[0067] 2×Phanta Max Buffer 12.5 μL,

[0068] dNTP Mix (10mM each) 0.5μL,

[0069] 5×PCR enhancer 5μL,

[0070] 1 μL of the upstream primer (10 μM) of the specific sequencing primer of the CCM2 gene mutant,

[0071] 1 μL of the downstream primer (10 μM) of the specific s...

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Abstract

The invention belongs to the technical field of biomedicine and relates to an autosomal dominant CCM2 gene mutant and application thereof. Compared with a nucleotide sequence of a wild CCM2 gene, a nucleotide sequence of the autosomal dominant CCM2 gene mutant has a mutation of a formula shown in the description. The invention also discloses a polypeptide coded by the CCM2 gene mutant, a detection method of a mutant site of a CCM2 gene, application of the CCM2 gene mutant in preparation of a familial intracranial cavernous hemangioma diagnosis or treatment product, and a detection method. According to the autosomal dominant CCM2 gene mutant and the application thereof, a primer, the detection method and the diagnostic kit are provided for early diagnosis and early intervention treatment on a familial intracranial cavernous hemangioma are provided, the specificity is high, the clinical application value is relatively high; and an important foundation is laid for research on pathogenesis of the familial intracranial cavernous hemangioma, and a possible drug target is provided for treatment on a familial intracranial cavernous hemangioma patient.

Description

technical field [0001] The invention belongs to the technical field of biomedicine, and in particular relates to an autosomal dominant CCM2 gene mutant and application thereof. Background technique [0002] Intracranial cavernoma (CCM) is an abnormal cavernous vascular mass composed of many thin-walled blood vessels that occurs in the central nervous system. It is a brain hamartoma characterized by focal hemorrhage and epileptic seizures. Occurs due to structural abnormalities. According to statistics, the incidence rate of intracranial CCM population is 0.1-0.5%, accounting for 10-20% of cerebrovascular malformations, most of them are 20-30 years old, and the clinical manifestations are epilepsy (40%-70%) and focal neurological dysfunction. (25%-50%), hemorrhage (25%-32%) and non-specific headache (10%-30%), but about 40% of patients have no clinical symptoms and are found through physical examination. Clinically divided into two categories: 1) sporadic intracranial caver...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/82C12Q1/6869C12Q1/6886C12N15/11
CPCC07K14/82C12Q1/6886C12Q1/6869C12Q2600/156C12Q2531/113C12Q2535/101C12Q2565/125
Inventor 韩国庆李庆国乔欢欢操振华王晓侠武俏丽
Owner 天津市环湖医院
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