Probe set for detecting pathogenicity/susceptibility genes of sudden cardiac death

Abstract

The invention provides application of a reagent for detecting pathogenicity and/or susceptibility genes of sudden cardiac death in preparing a product for diagnosing the sudden cardiac death. The reagent can capture various pathogenicity and/or susceptibility genes of the sudden cardiac death and can be used for detecting 116 related genes at most. By means of the reagent and the product containing the reagent, the causes of sudden cardiac death patients can be explained, the risk and danger factors of suffering from the sudden cardiac death are evaluated, references are provided for moleculargenetic diagnosis of diseased individuals, general investigation of high-risk populations, screening of onset-of-illness high-risk populations in family members and corresponding genetic counseling and prenatal diagnosis intervention, and the incidence of the sudden cardiac death is expected to be reduced. Meanwhile, a probe set, a chip and a kit have the advantages of high efficiency, many detection sites, high accuracy, convenient operation, high specificity and sensitivity, fastness, high practicability and low cost.

Description

technical field [0001] The invention relates to the technical fields of genetic engineering and molecular genetics, in particular to a probe set and kit for individualized capture and sequencing of pathogenic and / or susceptibility genes of sudden cardiac death. Background technique [0002] Sudden cardiac death refers to natural death caused by cardiac causes characterized by sudden loss of consciousness occurring within 1 hour after the onset of acute symptoms, accounting for the majority of sudden death, and the deceased may or may not have cardiovascular disease before death. Sudden cardiac death has the characteristics of rapid onset, rapid progression, and high mortality. 17 million people die from cardiovascular diseases every year in the world, and sudden cardiac death accounts for about 25%. The incidence rate of sudden cardiac death was 1.40 / 1000 persons / year for women and 6.68 / 1000 persons / year for men. About 50% of cardiac arrests occur in individuals without kn...

AI Technical Summary

Problems solved by technology

The second-generation high-throughput sequencing technology (next-generation sequencing technology) has the advantages of fast, accurate, and low cost, and can detect various types of mutations in multiple genes at the same time, and has been widely used in the etiology detection and molecular analysis of genetic defects. Genetic diagnosis, however, so far, there have been no high-throughput probes, chips or kits specifically for the detection of pathogenic / susceptible genes for sudden cardiac death, which makes the progress of this disease-related field seriously lagging behind, and the incidence rate The high level remains high, genetic counseling and necessary prenatal interventions cannot be implemented, and patients with this disease that should have been discovered early, identified the cause early, intervened early, and even partially cured cannot receive early attention, which not only brings huge losses to patients and their families. The pain and heavy economic burden of the country have also seriously hindered the substantial improvement of the overall quality of the population in our country.

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