Primer for detecting CPT2 F532C mutation, kit and system for screening severe case EV71 vulnerable child patients

Abstract

The invention discloses a primer for detecting CPT2 F532C mutation, a kit and a system for screening severe case EV71 vulnerable child patients, and belongs to the field of biomedicine. The technicalscheme comprise design of specific upstream and downstream primers; the system for screening severe case EV71 vulnerable child patients comprises a module 1, a module 2 and a module 3, wherein the module 1 is used for analyzing the detecting result obtained by performing EV71 RNA detection on in vitro samples of a person to be detected; the module 2 is used for further analyzing the detecting result obtained by performing CPT2 F532C detection on the in vitro samples by the kit containing the specific primers when the analysis result of the module 1 is positive; the module 3 is used for primarily screening the person to be detected or candidate to be the severe case EV71 vulnerable child patient when the analysis result of the module 1 is positive. The CPT2 F352C mutation can be timely andfast found; further, the severe case EV71 vulnerable child patient is determined; the positive and effective prevention and treatment is favorably given to the severe case EV71 vulnerable child patient in the early period.

Description

technical field [0001] The invention belongs to the field of biomedicine, and in particular relates to a primer and a kit for detecting CPT2 F532C mutation and a system for screening severe EV71 susceptible children. Background technique [0002] Enterovirus 71 (EV71) is a single-stranded positive-stranded small RNA virus belonging to enterovirus A group and is the most important pathogen causing hand, foot and mouth disease in children. EV71 is highly neurotropic and can cause severe central nervous system damage such as meningitis, encephalitis, brainstem encephalitis and neurogenic pulmonary edema. The enormous pressure and burden imposed on society and families has become an important public health problem, which has drawn the attention and vigilance of countries around the world. [0003] A previous study found that the c.1055T>G / p.F352C (F352C) mutation in exon 4 of the gene encoding carnitine palmitoyltransferase 2 (CPT2) increases the risk of severe EV71 infectio...

AI Technical Summary

Problems solved by technology

After CPT2 F352C mutation, the function of CPT2 enzyme is defective, long-chain fatty acids cannot be effectively transported and participate in oxidative phosphorylation, ATP production is reduced, and the concentration of acylcarnitine in peripheral blood is significantly increased, resulting in a series of energy and metabolic disorders

[0004] Children with severe EV71 encephalitis with CPT2 F352C mutation have significantly lower CPT2 activity and ATP levels in the hyperthermia stage than in the convalescent stage, that is, CPT2 F352 mutation is an important risk factor for brain injury after EV71 infection, because of its thermal instability, infection and high fever lead to CPT2 Mutant enzyme activity decreased, ATP decreased, and the resulting cytokine storm, oxidative stress, etc. aggravated the damage of the host blood-brain barrier, and the damage of blood-brain barrier endothelial cells could further stimulate the production of cytokines and inflammatory cells. Aggregation, which aggravates brain damage

However, it is not yet possible to detect children with severe EV71 infection clinically at present, so that effective measures can be taken to give active preventive treatment at an early stage

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