Gene marker for detecting amyotrophic lateral sclerosis, detection method and application

Abstract

The invention discloses a gene marker for detecting amyotrophic lateral sclerosis, a detection method and application, and belongs to the technical field of high-throughput sequencing. The detection method comprises the following steps: extracting genome DNA of a detected object, and sequentially carrying out fragmentation, purification and pre-PCR (Polymerase Chain Reaction) amplification reaction on the genome DNA to obtain a target region DNA library; capturing and enriching DNAs of a target gene coding region and an adjacent shearing region of the target region DNA library through the chip to obtain the target region library; carrying out gene detection on the target region library by using a high-throughput sequencing platform, comparing obtained sequencing data with a reference sequence of genome DNA, finding existing gene mutation, and carrying out data analysis to obtain gene mutation information related to amyotrophic lateral sclerosis pathopoiesis. The invention has the advantages of high sensitivity, strong pertinence, comprehensive coverage, large flux, high accuracy and the like, and has huge application space in clinical diagnosis and drug development.

Description

technical field [0001] The invention belongs to the technical field of high-throughput sequencing, and in particular relates to a gene marker, a detection method and an application for detecting amyotrophic lateral sclerosis. Background technique [0002] Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, mainly involving the pyramidal tract, brainstem and anterior horn cells of the spinal cord, and the clinical manifestations are progressive muscle atrophy, weakness and spasticity , and cognitive impairment, etc., partially overlap with the clinical manifestations of frontotemporal dementia, and are the most common type of motor neuron disease. [0003] ALS occurs between the ages of 50 and 60, with an incidence rate of 2 / 100,000, and is characterized by selective death of upper and lower motor neurons, resulting in progressive muscle atrophy, weakness, and stiffness. The median survival time of ALS from onset to death is 39 months, and most patients...

AI Technical Summary

Problems solved by technology

[0005] Since the etiology and pathogenesis of ALS are still unclear, there is currently no effective radical cure in clinical treatment, and there is no specific method / drug to reverse and prevent the progression of the disease. Early symptomatic treatment is mainly used. Existing treatments can only improve symptoms, and Inability to stop or reverse disease progression

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