Kit for diagnosing cerebrovascular stenosis and application thereof

Abstract

The invention relates to a kit for diagnosing cerebrovascular stenosis. The kit disclosed by the invention is characterized in that a gene segment with c.541C>T is used as a primer pair of a specific amplification human NF1 (neurofibromatosis type 1) gene in the target sequence design; and the mutation position is started from a first base in a gene coding region of NF1. The invention finds an NF1 gene mutation nucleotide sequence related to cerebrovascular stenosis by research; compared with a corresponding nucleotide sequence contained in NF1, the NF1 gene mutation nucleotide sequence is mutated at the following position: c.541C>T; the mutation position is started from the first base in the gene coding region of NF1; and the mutation causes a patient to suffer from cerebrovascular stenosis. 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 kit disclosed by the invention provides a novel technical means for carrying out super early diagnosis and prevention on the sporadic potential cerebrovascular stenosis of NF1 patients.

Description

technical field [0001] The invention relates to a disease diagnosis kit, in particular to a kit for diagnosing cerebral vascular stenosis and its application in diagnosing cerebrovascular disease or diagnosing type I neurofibroma combined with cerebral vascular stenosis, belonging to disease diagnosis field. Background technique [0002] Cerebral vascular stenosis is a common disease endangering human health, which can lead to ischemic stroke with high disability rate and high fatality rate. Its pathogenesis is not completely clear, which makes the prevention and treatment of cerebral vascular stenosis into a "bottleneck". At present, despite the popularization of primary and secondary stroke prevention knowledge, the application of arterial stents, carotid endarterectomy, and intracranial and intracranial arterial bypass techniques, some patients' cerebral ischemia symptoms have been relieved, resulting in disability and death. The rate of cerebral vascular stenosis has b...

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

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