Probe group for detecting pathogenic/susceptible genes of hereditary cardiomyopathy/arrhythmia

Abstract

The invention provides a probe group for detecting pathogenic / susceptible genes of hereditary cardiomyopathy / arrhythmia, and provides application of a reagent for detecting pathogenic and / or susceptible genes of the cardiomyopathy in preparing products for diagnosing the cardiomyopathy. The reagent can capture various pathogenic and / or susceptible genes of the cardiomyopathy, and at most 312 related genes can be detected simultaneously. The invention further provides a probe group for detecting the pathogenic and / or susceptible genes of the cardiomyopathy and a kit containing the probe group.The probe group and the kit containing the probe group can be used for molecular genetic diagnosis of a sick individual and family screening of the sick family members, and have important clinical significance to early intervening treatment of the mutation carriers. Meanwhile, the probe group and the kit have the advantages of being high in efficiency, multiple in detection sites, accurate, easy to operate, good in specificity, high in sensitivity, rapid, high in practicability and low in cost.

Description

technical field [0001] The invention relates to the 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 for detection of cardiomyopathy and / or arrhythmia. Background technique [0002] Cardiomyopathy is a group of complex diseases of the cardiovascular system, which can be limited to the myocardium or part of systemic diseases, that is, diseases with abnormal myocardial morphology and function, excluding all other diseases that can independently cause the above abnormalities. [0003] Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy clinically, characterized by asymmetric hypertrophy of the left and / or right ventricle, the interventricular septum is most often involved, and the main pathology is cardiomyocyte hypertrophy and arrangement disorder feature. The clinical manifestations of HCM are highly heterogeneous, ranging from...

AI Technical Summary

Problems solved by technology

At present, the detection of known HCM pathogenic genes can only be carried out by designing primers one by one, PCR amplification, Sanger sequencing, and comparison with reference sequences after determining the target detection genes, which is time-consuming, laborious and expensive; and Molecular genetic diagnosis is often difficult to establish in children without severe mutations in known disease-causing genes, which poses a huge obstacle to genetic counseling and the resolution of many related problems

[0005] Genetic testing is helpful for the differential diagnosis and family screening of HCM, but its application in risk prediction and stratification is still very limited, because HCM genotypes and phenotypes have obvious heterogeneity, most of the reported pathogenic mutations Limited to a few families or sporadic cases, the relationship between genotype and phenotype still needs further study

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 genetic diagnosis, however, so far, there have been no high-throughput probes, chips or kits specifically for the detection of causative genes of hereditary cardiomyopathy, making the progress of this disease-related field seriously lagging behind, and it is impossible to clearly identify the disease Due to the low sensitivity of diagnosis, family screening and necessary early intervention and treatment cannot be implemented, which not only brings great pain and heavy economic burden to patients and their families, but also seriously hinders the improvement of the overall quality of the population in my country. Amplitude increase

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