Gene probe composition for detecting idiopathic epilepsy, kit and applications

Abstract

The invention provides gene probe composition for detecting idiopathic epilepsy, a kit and applications. The gene probe composition for detecting idiopathic epilepsy is different in that the gene probe composition comprises an SCN2A gene probe, an SCN1A gene probe, a KCNQ2 gene probe, a CHRNA4 gene probe, a GABRA1 gene probe, a GABRD gene probe, an LGI1 gene probe, a CLCN2 gene probe and a CACNA1Hgene. The detection kit is based on probe hybridization capture, has the advantages of high throughput and simultaneous detection of high-frequency mutation sites on a plurality of gene exons, and the disadvantages of high cost, long time consumption, complicated operation and the like of traditional single gene detection are changed. Detection of multiple genes in a single small sample is realized, and clinical practice requirements of maximum small sample utilization and maximum information amount acquisition are met.

Description

technical field [0001] The invention relates to the field of gene testing, in particular to a gene probe composition, kit and application for detecting idiopathic epilepsy. Background technique [0002] Epilepsy is one of the most common neurological diseases, divided into idiopathic epilepsy and secondary epilepsy. Studies have shown that although epilepsy is not classified as a genetic disease, its genetic predisposition is obvious. If the mother suffers from epilepsy, the risk of her offspring suffering from epilepsy is 2 to 4 times that of the normal population. Genetic factors are an important cause of epilepsy, especially classic idiopathic epilepsy. Molecular genetic studies have found that the molecular mechanism of most hereditary idiopathic epilepsy is the structural or functional changes of ion channels and related molecules. Routine detection before conception of epilepsy patients of childbearing age is relatively simple, and it is impossible to detect whether...

AI Technical Summary

Problems solved by technology

Routine detection of epilepsy patients of reproductive age before conception is relatively simple, and it is impossible to detect whether the offspring has hereditary epilepsy and its risk

At present, the clinical diagnosis of the disease is mainly based on the patient's clinical manifestations and laboratory tests. These methods cannot clarify the pathogenesis of the disease and the classification of the disease, especially idiopathic epilepsy in epilepsy.

[0003] In recent years, remarkable achievements have been made in the basic research on the pathogenesis of epilepsy, especially in the study of its molecular biology. There are many kinds of lesion genes involved in epilepsy, and the specific mutation sequence cannot be obtained intuitively by conventional PCR methods. However, the method of first-generation sequencing is affected by the sequencing throughput and cannot detect all the exon regions of multiple genes at one time. As a high-throughput detection method, next-generation sequencing can accurately measure the exon regions of multiple genes at one time. Exon and related sequences make it possible to accurately diagnose hereditary idiopathic epilepsy, but so far, no kit for high-throughput detection of idiopathic epilepsy has appeared

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