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Use of SNP (single nucleotide polymorphism) locus of MUC3B gene

A site and gene technology, applied to the use of MUC3B gene SNP sites and related kits, can solve the problems of no susceptibility genes, gene research stays in the experimental stage, etc., and achieve good sensitivity results

Active Publication Date: 2016-09-28
SICHUAN PROVINCIAL PEOPLES HOSPITAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Through the traditional candidate gene research method, many susceptibility genes have also been found through the determination of genes related to the occurrence of intracranial aneurysms, such as endoglin gene, matrix metalloproteinase gene, IR collagen gene, otl-antibody Trypsin gene, elastin gene, angiotensin-converting enzyme gene, apolipoprotein gene, etc. Although the above-mentioned related genes have been discovered, the research on the genes is still in the experimental stage, and there is no effective susceptibility gene clinically. For the diagnosis of intracranial aneurysms

Method used

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  • Use of SNP (single nucleotide polymorphism) locus of MUC3B gene
  • Use of SNP (single nucleotide polymorphism) locus of MUC3B gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0042] Example 1 Screening of SNPs sites of genes related to susceptibility to intracranial aneurysms

[0043] 1. Collection and storage of samples and clinical data

[0044] 10 patients with intracranial aneurysm SAH were collected. The diagnosis of aneurysmal SAH was carried out according to the guidelines for the treatment of aneurysmal SAH formulated by the American Stroke Association (ASA) and the American Heart Association (AHA), and it was confirmed by head CT examination. Exclude patients with hypertensive cerebral hemorrhage and cerebrovascular malformation, and exclude SAH caused by other reasons such as brain trauma, intracranial infection, tumor apoplexy or intracranial metastases. All intracranial aneurysms were diagnosed as intracranial aneurysms by clinical symptoms and whole brain digital subtraction angiography and / or CT angiography.

[0045] Record the etiology, pathogenesis and treatment process of the enrolled patients in detail, and register their general...

Embodiment 2

[0066] Example 2 Identification of SNPs sites of genes related to susceptibility to intracranial aneurysms

[0067] 1. Clinical data

[0068] 1.1 Research object

[0069] Intracranial aneurysm group: the selected subjects were patients with intracranial aneurysm SAH collected by neurosurgery. The diagnosis of aneurysmal SAH is based on the guidelines for the treatment of aneurysmal SAH formulated by the American Stroke Association (ASA) and the American Heart Association (AHA), and it is confirmed by cranial CT examination, and patients with hypertensive cerebral hemorrhage and cerebrovascular malformation are excluded , and rule out SAH caused by traumatic brain injury, intracranial infection, tumor apoplexy or intracranial metastases. All intracranial aneurysms were diagnosed as intracranial aneurysms by clinical symptoms and whole brain digital subtraction angiography and / or CT angiography.

[0070] Control group: The subjects in the control group were those who had no h...

Embodiment 3

[0092] Example 3 Intracranial Aneurysm Susceptibility Diagnostic Kit

[0093] According to the correlation between the MUCB3 gene SNP site rs100389954 and the susceptibility of intracranial aneurysm, the susceptibility of intracranial aneurysm can be diagnosed by detecting the genotype of the SNP site, and accordingly the present invention provides a method based on the diagnosis of osteosarcoma Susceptibility kit, the diagnostic kit also includes DNA extraction reagents and PCR reaction system reagents, wherein the primer sequences for amplifying the SNP site rs100389954 of the MUCB3 gene in the PCR reaction system are as SEQ ID NO.1 and SEQ ID NO. As shown in 2, the reagents for PCR reaction also include dNTP, MgCl2, Taq DNA polymerase, PCR reaction buffer, deionized water.

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Abstract

The invention discloses use of an SNP (single nucleotide polymorphism) locus of an MUC3B gene. The SNP site is rs100389954. The SNP site rs100389954 of the MUC3B gene is found to be related with intracranial aneurysm for the first time, so that a kit for diagnosing risks of susceptibility to intracranial aneurysm by detecting a genotype of the SNP site is disclosed on such a basis. The kit is sensitive and specific, and can be used for screening susceptibility of a normal population to intracranial aneurysm to effectively achieve the effects of risk early warning and early diagnosis.

Description

technical field [0001] The invention belongs to the field of biomedicine, and specifically relates to the application of the SNP site of the MUC3B gene and related kits. Background technique [0002] An intracranial aneurysm is a bag-like pathological dilation of an intracranial artery. Rupture of an intracranial aneurysm is one of the most serious neurological diseases to date. my country is a high-incidence area of ​​intracranial aneurysms, with a population incidence rate of 0.1-4%. Although the treatment of intracranial aneurysms has made great progress in the past ten years, the prognosis of patients is still poor, and the fatality rate is as high as 30-40%. [0003] Studies have confirmed that the formation, growth and rupture of intracranial aneurysms are mainly due to the pathophysiological changes of the aneurysm wall. Based on the morphological and histopathological studies of the vessel wall, the formation of intracranial aneurysms is the result of different ex...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6886C12Q2600/156
Inventor 李志立鲁芳黄光富谭海斌王振宇石毅陈隆益刘泠王奇殷成
Owner SICHUAN PROVINCIAL PEOPLES HOSPITAL
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