65 results about "Pathogenic genes" patented technology

The invention provides a vaccine target screening system based on calculation model simulation. The vaccine target screening system comprises a multi-source heterogeneous database, wherein the multi-source heterogeneous database integrates and standardizes pathogenic genes, protein structures, literatures and experimental data; the feature calculation module calls a calculation biological model to carry out structural analysis, immunogenicity simulation and stability prediction; the intelligent screening and sorting module applies a multi-objective optimization algorithm to perform parallel evaluation and outputs optimal target spots; a structure iteration optimizer automatically iteratively corrects the optimized target spots to generate a high-potential variant library; and the process suitability simulation module couples the variants with the preparation formula and the process parameters to simulate production storage behaviors and feeds back an optimization target. According to the invention, efficient screening and optimization of vaccine targets can be realized, the accuracy and efficiency of target screening are improved, the research and development cost is reduced, and the research and development process of vaccines is accelerated.

The invention discloses a verticillium dahliae virulence gene, a verticillium dahliae virulence protein and application. The invention relates to the technical field of biology, and provides a method for preventing and treating cotton verticillium wilt based on RNAi (RNA interference) as well as related components and application thereof. Specifically, the invention discloses application of the verticillium wilt prevention and treatment by a method for inhibiting or silencing the expression of verticillium dahliae pathogenic gene VdHDAC (coding protein of the verticillium dahliae pathogenic gene VdHDAC is shown as SEQ ID NO: 3), the core of the verticillium wihliae pathogenic gene VdHDAC is to provide dsRNA molecules capable of targeting the gene, and the positive-sense strand of the dsRNA molecules is preferably selected from SEQ ID NO: 5, SEQ ID NO: 8, SEQ ID NO: 9 or SEQ ID NO: 11. Based on the molecule, the invention further provides a recombinant vector containing the coding sequence, a recombinant microorganism, a transgenic disease-resistant plant and an RNAi pesticide preparation. The scheme can be realized through host-induced gene silencing, microorganism-mediated gene silencing or preparation treatment and the like, the virulence of pathogenic bacteria can be effectively reduced, and a new technical approach is provided for green prevention and control of verticillium wilt.

This invention discloses a pathogenic gene of barley stripe bacterium. Pg00232 Its application. Barley stripe disease is a fungal disease caused by *Barley Stripe Pathogen*, which seriously affects barley yield and quality. Traditional control methods have limited effectiveness and pose environmental risks; breeding disease-resistant varieties is the best strategy. This invention provides pathogenicity information for *Barley Stripe Pathogen*. Pg00232 Genes, and obtained through RNA interference technology Pg00232 The mutant strain further confirmed that Pg00232 The influence of genes on the growth, development, and pathogenicity of barley stripe causal agent. This discovery provides technical support for subsequent large-scale screening of pathogenic mutants of barley stripe causal agent, promotes the isolation, identification, and pathogenic mechanism research of pathogenic genes, and contributes to the breeding and selection of disease-resistant varieties.

The application belongs to the technical field of biology, and specifically discloses a truncated mutant of ANKRD11 and application thereof. The ANKRD11 gene mutant is any one of the following: a nucleic acid, wherein the nucleic acid has a target fragment, and the target fragment is compared with a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 1, nucleotides from No. 1910 to No. 1913 are deleted; a polypeptide, wherein the polypeptide has a p.K637Tfs*15 mutation compared with a protein encoded by a wild-type ANKRD11 gene with a sequence of SEQ ID NO. 2. The application also relates to application of a reagent for detecting the aforementioned ANKRD11 gene mutant in screening of a KBG syndrome risk population. In the present disclosure, the pathogenic gene spectrum of the KBG syndrome is widened, the understanding of the disease is strengthened, experience is provided for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The invention provides a nanoparticle penetrating cornea as well as a preparation method and application thereof. The nanoparticle comprises a cationic liposome G2-C14, an inner core formed by aliphatic polyester and an amphiphilic polymer, and a shell modified by polysaccharide, the hydrophobic drug and the siRNA are loaded in the inner core. According to the nano-particles provided by the invention, through polysaccharide surface modification, ocular surface adhesion and trans-epithelium transport capability are enhanced, multi-barrier penetration of the eye is realized, the nano-particles are effectively delivered to a focus area of posterior segment of the eye, the delivered siRNA targets to silence the expression of age-related macular degeneration pathogenic genes, and the hydrophobic drug removes active oxygen and inhibits release of inflammatory factors, so that the anti-aging effect of the nano-particles is improved. The focus thickness is synergistically reduced.

The invention belongs to the field of medical diagnosis, and particularly relates to adolescent idiopathic scoliosis disease-causing gene mutation and a diagnostic reagent based on the adolescent idiopathic scoliosis disease-causing gene mutation, and it is found for the first time that the adolescent idiopathic scoliosis disease can be caused by GPER1 gene mutation (chr7: 1, 091, 747Ggt, C, hg38) through an exon sequencing technology. Research results of the invention can be used for early screening of adolescent idiopathic scoliosis virulence gene mutation carriers to provide prenatal and postnatal rearing guidance on one hand, and can provide molecular diagnosis basis for adolescent idiopathic scoliosis patients on the other hand to provide a new direction for research and development of related scientific research and medical diagnosis products on the other hand, so that the research and development of the adolescent idiopathic scoliosis virulence gene mutation carriers can be promoted. Wide application prospects and market values are realized.

The invention belongs to the technical field of biological medicine and molecular biology, and provides a hypertrophic cardiomyopathy virulence gene MYH7c.794Cgt; the invention relates to T (p.Thr265Ile) and an application thereof. The MYH7 gene mutation is located on the ninth exon, the 794th base is mutated from C to T, namely ACC is mutated to ATC, and the 265th amino acid in the coded amino acid sequence is mutated from threonine to isoleucine. The mutation induces cardiac hypertrophy by disrupting energy metabolism-this defect occurs prior to the occurrence of systolic dysfunction. Along with increasingly prominent status of precision medicine in cardiovascular treatment, a treatment strategy aiming at an upstream pathological process (such as energy homeostasis and mitochondrial dysfunction) provides a way with a wide prospect for preventing and treating MYH7-related hypertrophic cardiomyopathy. MYH7 gene screening has important values in the aspects of promoting early diagnosis, guiding timely treatment intervention and realizing risk-based prevention and management.

The application belongs to the technical field of gene diagnosis, and specifically discloses a PHEX gene mutant and application thereof. The application mainly relates to the PHEX gene mutant and application thereof, and specifically relates to application of a PHEX c.112_113insA mutation in screening of a product of X-linked hypophosphatemic rickets resistant to vitamin D. The disclosure widens the pathogenic gene spectrum of X-linked hypophosphatemic rickets resistant to vitamin D, strengthens the understanding of the disease by clinical doctors, provides experience for screening and diagnosis of the disease in the clinic, and also provides a basis for prenatal diagnosis.

The present application relates to the technical field of biology, and relates to an siRNA targeting glioblastoma multiforme and a use thereof. Provided is an siRNA targeting glioblastoma multiforme. An antisense strand of this siRNA can specifically bind to a target nucleic acid to initiate degradation of the target nucleic acid, wherein the target nucleic acid comprises a pathogenic gene in glioblastoma multiforme, and the pathogenic gene in glioblastoma multiforme comprises a gene encoding ribonucleotide reductase subunit M2 and / or a gene encoding heat shock protein 47. Studies have shown that both the gene encoding the ribonucleotide reductase subunit M2 and the gene encoding the heat shock protein 47 have a significant correlation with the survival of patients with glioblastoma multiforme. The two genes can be used as therapeutic targets for glioblastoma multiforme. The siRNA capable of effectively knocking down the expression of the two genes in the patients with glioblastoma multiforme has great application prospects in the preparation of drugs for preventing and / or treating glioblastoma multiforme.

The invention discloses a system for screening Reiye's syndrome based on NOD2 gene new pathogenic mutation. The invention provides a computer device. The computer device comprises a memory, a processor and a computer program stored in the memory, the processor executes the computer program to implement the following steps: receiving NOD2 gene data (cDNA sequence) of a person to be tested; the method comprises the following steps: reacting the NOD2 gene with any one of the following mutations in SEQ ID No.2 stored in a computer: c.380Cgt; t, c, 2657Cgt; t, c.328Ggt; a, c.1295Cgt is selected from the group consisting of the T, c, 1981Ggt; c, and c, 2452Agt; c) performing comparison; and according to a comparison result, outputting information about whether the to-be-detected person is or is suspected to be a patient with the Reiderson's syndrome or about the risk of suffering from the Reiderson's syndrome. The novel pathogenic gene mutation form related to the NOD2 gene of the patient with the Reidersi syndrome is found, the novel pathogenic gene mutation form can serve as a target object to be used for developing a reagent and a computer device for diagnosing or screening the Reidersi syndrome, and the novel pathogenic gene mutation form has important significance on diagnosis and screening of the Reidersi syndrome.

This invention relates to a kit and method for detecting pathogenic genes of hereditary macular degeneration (AMD). The kit includes a hybridization mixture containing a probe set for detecting AMD pathogenic genes. The probe set includes capture probes capable of simultaneously and specifically capturing pathogenic genes ABCA4, BEST1, PRPH2, ELOVL4, PROM1, IMPG1, IMPG2, EFEMP1, RP1L1, and TIMP3, as well as the pathogenic regions of MCDR3 and MCDR1. The capture probes capturing the pathogenic regions of MCDR3 and MCDR1 include probes with sequences shown in SEQ ID NO. 1-174 and SEQ ID NO. 175-235, respectively. This invention proposes a targeted amplification strategy for the non-coding pathogenic region of NCMD, successfully detecting two novel point mutations and one genomic structural variation, achieving the detection of point mutations and structural variations in non-coding regions.

The invention provides a gene mutant and application thereof, and belongs to the technical field of gene detection. Specifically, compared with a wild ATRN gene, the nucleotide sequence of the gene mutant provided by the invention has the following mutations: c.1504Ggt; t; wherein the nucleic acid is DNA (Deoxyribose Nucleic Acid). According to the application, the pathogenic gene ATRN having a causal relationship with schizophrenia is confirmed, and mutation influencing the gene function may cause myelin sheath injury so as to cause schizophrenia.

This invention belongs to the field of biotechnology, specifically disclosing novel mutations of ANKRD11 and their applications. The ANKRD11 gene mutation can be any of the following: a nucleic acid having a target fragment, wherein the target fragment has a G repeat at position 4708 compared to the wild-type ANKRD11 gene with sequence SEQ ID NO.1; or a polypeptide having the p.E1570Gfs*71 mutation compared to the wild-type protein encoded by the ANKRD11 gene with sequence SEQ ID NO.2. The invention also relates to the application of reagents for detecting the aforementioned ANKRD11 gene mutation in screening individuals at risk for KBG syndrome. This disclosure broadens the pathogenic gene spectrum of KBG syndrome, enhances the understanding of the disease, provides experience for clinical screening and diagnosis of the disease, and also provides a basis for prenatal diagnosis.

This application relates to a screening device and medium for candidate pathogenic genes and variants of hemophagocytic lymphohistiocytosis (HLH), belonging to the field of gene sequencing analysis technology. The device includes: an acquisition module for acquiring the gene sequencing variant file of the subject; a preliminary filtering module for initially filtering variant sites in the gene sequencing variant file; a variant annotation module for annotating the variant sites in the initially filtered gene sequencing variant file to generate a variant annotation file; a secondary filtering module for secondary filtering of variant sites in the variant annotation file; and a screening module for screening the variant sites in the secondary-filtered variant annotation file based on a local variant library to obtain candidate pathogenic genes and variants. The local variant library stores gene sequencing data of patients with similar HLH phenotypes and their non-phenotyped family members. This application can rapidly and accurately screen for harmful mutations related to HLH.

The application discloses a Higgins anthracnose pathogenic gene ChTHR1 and application thereof. The nucleotide sequence of the ChTHR1 gene is shown as SEQ ID NO:1, and the amino acid sequence of the encoded protein is shown as SEQ ID NO.3. The application determines that the pathogenic gene ChTHR1 has a key role in spore production, the rate of appressorium formation, mycelium biomass, ultraviolet resistance, melanin production and melanin accumulation of Higgins anthracnose, and can be used as a drug target for drug design and screening against Higgins anthracnose. Higgins anthracnose spreads between leaf blades of Brassica parachinensis and other cruciferous vegetables in Guangdong by means of conidia, and the conidia are eliminated or inhibited to prevent the prevalence of plant anthracnose. The ChTHR1 gene is used as a target for drug development, a drug for preventing and treating anthracnose caused by Higgins anthracnose and reducing the pathogenicity of plant Higgins anthracnose is screened, and the effect of the drug is evaluated.

The invention belongs to the technical field of biology, and particularly relates to a reagent for detecting pathogenic genes as well as a preparation method and application thereof. The invention finds that a biological sample is enriched through broad-spectrum captured protein, the captured protein is labeled with biotin, pathogenic microorganisms are separated from the biological sample through high-density streptavidin coated magnetic beads, the pathogenic microorganisms are split after pure culture, pathogenic genes are detected after nucleic acid is extracted, and the turnover time is shortened to 4 hours. The precise distribution of nucleic acid is realized through an annular array reaction cavity preloaded with 32 freeze-dried LAMP reagents in combination with centrifugal force driving. The single chip synchronously detects more than or equal to 30 major pathogen genes / drug-resistant genes, covers common bloodstream infection pathogens, and breaks through the existing POCT flux bottleneck. According to the present invention, with the kit, the blood matrix inhibition can be eliminated, the pathogen concentration can be rapidly increased (the detection threshold value can be reached after culture), the positive detection rate can be increased to the clinical requirement level (gt, 90%), and the pathogen detection limit in the blood sample can meet the clinical critical infection early diagnosis requirement of less than or equal to 10 CFU / mL;

The invention discloses a gene FgPIP1 for regulating and controlling polar growth and pathogenicity of the top end of fusarium graminearum and application of the gene FgPIP1, and belongs to the field of plant disease prevention and control. According to the invention, a novel pathogenic gene FgPIP1 with specific existence of filamentous ascomycetes is found in plant pathogenic fungi fusarium graminearum, and the nucleotide sequence of the pathogenic gene FgPIP1 is shown as SEQ ID NO. 1. Compared with a wild strain PH-1, the FgPIP1 gene knockout mutant has the advantages that the diameter of a vegetative growth colony of the mutant is reduced, the number of apical branches of hyphae is increased, and the pathogenicity to wheat ears is reduced, which indicates that the FgPIP1 gene plays an important role in regulating and controlling the pathogenic process of fusarium graminearum. The invention provides a molecular basis for developing a novel bactericide by utilizing the FgPIP1 gene and taking inhibition of the top growth of filamentous fungus hyphae as a target spot.

This application relates to the field of gene recognition technology, and provides a method and related equipment for identifying pathogenic genes based on abnormal expression. The method includes: for each target gene, calculating tail enrichment statistics in two tail directions based on the grouping tag values ​​of all signal vectors to characterize the abnormal expression of the target gene at the low or high expression end; determining the optimal tail enrichment direction from the two tail directions based on the two tail enrichment statistics; calculating the tail boundary shift degree of the target gene according to the optimal tail enrichment direction; calculating the significance p-value of each target gene; identifying multiple pathogenic genes from all target genes based on all significant p-values; and performing pathogenicity analysis based on the tail boundary shift degree and optimal tail enrichment direction of all pathogenic genes to obtain the pathogenic gene identification result. The method of this application can improve the accuracy of pathogenic gene identification.

The application belongs to the technical field of gene detection and molecular diagnosis, and particularly relates to a kit for detecting a pathogenic gene of phenylketonuria and application thereof. The kit comprises a primer pair for amplifying specific exons and splicing regions of a phenylalanine hydroxylase gene, and specific probes for detecting hot spot mutations and deletion / repetition variations of the gene. The application can detect genetic variations related to phenylketonuria in one time, quickly and accurately by combining optimized multiplex polymerase chain reaction with high-throughput sequencing or gene chip technology, and covers various known hot spot mutations and copy number variations including c.1222C>T, c.1068-11G>A, c.728G>A and c.1162G>A. The kit has high detection sensitivity and strong specificity, and is suitable for positive recall diagnosis of neonatal phenylketonuria screening, genetic diagnosis of suspected patients, carrier screening and prenatal diagnosis, and provides an efficient tool for precise prevention and control of phenylketonuria.

The invention discloses a verticillium dahliae virulence gene, a verticillium dahliae virulence protein and application. The invention relates to the technical field of biology, and provides a method for preventing and treating cotton verticillium wilt based on RNAi (RNA interference) as well as related components and application thereof. Specifically, the invention discloses application of preventing and treating verticillium wilt by a method for inhibiting or silencing the expression of verticillium dahliae pathogenic gene VdHAT1 (the encoding protein of the verticillium dahliae pathogenic gene VdHAT1 is as shown in SEQ ID NO: 3), the core of the verticillium dahliae pathogenic gene VdHAT1 is to provide dsRNA molecules capable of targeting the gene, and the positive-sense strand of the dsRNA molecules is preferably selected from SEQ ID NO: 4, SEQ ID NO: 6 or SEQ ID NO: 7. Based on the molecule, the invention further provides a recombinant vector containing the coding sequence, a recombinant microorganism, a transgenic disease-resistant plant and an RNAi pesticide preparation. The scheme can be realized through host-induced gene silencing, microorganism-mediated gene silencing or preparation treatment and the like, the virulence of pathogenic bacteria can be effectively reduced, and a new technical approach is provided for green prevention and control of verticillium wilt.

The application relates to the field of biological medicine, and discloses application of a GOSR1 gene in prevention and / or treatment of respiratory pathogenic bacteria. By specifically knocking down the GOSR1 gene, the application can reduce the expression level of pathogenic gene and protein, thereby significantly inhibiting the proliferation of the respiratory pathogenic bacteria. In addition, it is disclosed that overexpression of the GOSR1 gene can activate the proliferation of the pathogenic bacteria in cells infected by the respiratory pathogenic bacteria. The application provides a brand-new strategy for treatment of respiratory pathogenic bacteria infection based on the regulation of the GOSR1 gene on the proliferation of the respiratory pathogenic bacteria, and is especially suitable for intervention of influenza A virus infection.

The present application relates to a gene mutation and phenotype information association analysis method and system, belonging to the technical field of automatic medical analysis. The method comprises the following steps: S1: obtaining a high-frequency pathogenic gene mutation white list; S2: obtaining genotype data of the object to be analyzed, comparing with the gene mutation in the white list, taking the intersection, and obtaining the high-frequency pathogenic gene mutation; S3: obtaining the high-frequency pathogenic gene mutation and the phenotype information of the object to be analyzed, performing high-frequency pathogenic gene mutation association analysis, and obtaining the associated high-frequency pathogenic gene mutation set; S4: obtaining the genotype data and the phenotype information of the object to be analyzed, performing conventional association analysis, and obtaining the associated gene mutation set; S5: obtaining the associated high-frequency pathogenic gene mutation set and the associated gene mutation set, taking the union, and outputting the gene mutation list in the union, which is the candidate pathogenic gene mutation list. The method can solve the problem of false negatives in conventional analysis methods (software).

Barley stripe pathogen is an important plant pathogenic fungus which infects barley to cause stripe disease. The invention provides a method for predicting whether the barley stripe pathogen effect protein PgGH18-5 is secreted protein or not and analyzing functions of the barley stripe pathogen effect protein PgGH18-5, a mutant strain of a barley stripe pathogen pathogenic gene PgGH18-5 is obtained by using RNA (Ribonucleic Acid) interference and gene overexpression technologies, and the effect of the PgGH18-5 in the infection pathopoiesis of the barley stripe pathogen is determined according to the pathogenic function of the mutant. And analyzing the pathogenesis of the pathogenic gene. Meanwhile, a target gene is provided for developing and researching the effector protein in the barley streak pathogen.

The invention discloses application of a reagent for detecting SCN2B and / or SCN4B gene mutation in preparation of a hereditary arrhythmia detection product. According to the present invention, through the dual detection system combining whole exon sequencing with Sanger sequencing verification, the accurate capture of the pathogenic mutation such as SCN2B-R28Q / Y69H / P210L and SCN4B-T211M is achieved, and the problem that only SCN5A is determined as the main pathogenic gene in the clinical diagnosis of J wave syndrome (JWS) at present, and the gene detection of about 70-80% of patients is negative is solved. Wherein the three missense mutations of the SCN2B and the SCN4B-T211M variation are reported in the JWS for the first time, and the SCN4B is clear as the JWS pathogenic gene for the first time, so that the pathogenic gene spectrum of the JWS is obviously expanded. A detection product developed on the basis of the method can realize early accurate diagnosis, provide personalized risk assessment (such as sudden death early warning induced by fever) for patients, guide genetic screening of family members and remarkably improve clinical diagnosis and treatment efficiency.

The invention provides an irritable bowel syndrome risk marker based on genomics. The risk marker comprises the following six pathogenic genes: CADM2, PHF2, PCLO, SHISA6, LRP1B and TANK. According to the invention, not only is the effect of the latest large-scale whole genome association research (GWAS) on the aspect of analyzing the genetic cause of the irritable bowel syndrome shown, but also five new genetic risk variation, potential unreported pathogenic genes and treatment targets of the irritable bowel syndrome are found; a new insight is provided for the cause of the irritable bowel syndrome, and a potential therapeutic intervention target is highlighted. The invention also provides an application based on the risk marker of the irritable bowel syndrome and a corresponding early screening kit.

The application discloses application of a reagent for detecting SCN2B and / or SCN4B gene mutation in preparation of a genetic arrhythmia detection product. Through a double detection system of whole exon sequencing combined with Sanger sequencing verification, the application realizes accurate capture of pathogenic mutations such as SCN2B-R28Q / Y69H / P210L and SCN4B-T211M, and solves the difficulty that only SCN5A is confirmed as a main pathogenic gene in the current clinical diagnosis of J wave syndrome (JWS), and about 70%-80% of patients have gene detection negative. The three missense mutations of SCN2B and the SCN4B-T211M variation are reported for the first time in JWS, and SCN4B is confirmed as a pathogenic gene of JWS for the first time, which significantly expands the pathogenic gene spectrum of JWS. The detection product developed based on this can realize early accurate diagnosis, provide personalized risk assessment (such as early warning of sudden death induced by fever) for patients, and guide genetic screening of family members, and significantly improves the clinical diagnosis and treatment efficiency.

The application provides application of PWWP3B in preparation of a diagnostic product and a therapeutic drug for testicular premature failure or oligoasthenospermia, and finds that the occurrence of testicular premature failure or oligoasthenospermia is related to abnormal PWWP3B gene or abnormal expression level of a PWWP3B gene coding protein. Therefore, testicular premature failure or oligoasthenospermia can be definitely diagnosed by detecting the PWWP3B gene sequence or the PWWP3B protein expression level. Meanwhile, it is found that a mutation pathogenic gene related to testicular premature failure or oligoasthenospermia contains 7 mutation sites, and based on the above 7 mutation points, a corresponding AAV carrier is constructed for treatment, and the effectiveness of a gene therapy drug for a specific genetic mutation is confirmed.

This invention belongs to the field of genetic engineering technology and relates to a pathogenic gene of *V. mali*, the causal agent of apple tree rot, and its application and dsRNA. This invention discloses the pathogenic gene VmNRPS25 of *V. mali*, whose CDS region sequence is shown in SEQ ID NO: 1. Inhibiting the expression of the pathogenic gene VmNRPS25 in *V. mali* reduces the biomass of *V. mali* in the host plant and weakens the virulence of *V. mali*. This invention further constructs a dsRNA around the pathogenic gene VmNRPS25 of *V. mali*, which induces silencing of the pathogenic gene VmNRPS25 in *V. mali* through exogenous spraying, and can be used for the prevention and control of *V. mali* and its pathogenic plant diseases in host plants.

The invention relates to a neonatal genetic disease gene and metabolite combined screening method, system and equipment, and the method comprises the steps: carrying out the rapid detection of a plurality of metabolites on a neonatal biological sample, and obtaining metabolic spectrogram data; comparing the metabolic spectrogram data with a metabolic phenotype-genotype associated knowledge base, and automatically identifying an abnormal metabolic phenotype meeting a preset condition; in response to the identified abnormal metabolic phenotype, automatically triggering gene analysis of a specific gene corresponding to the target genetic disease in the same biological sample; based on the abnormal metabolic phenotype and the gene analysis result of the specific gene, a combined screening report is generated, so that accurate and efficient source tracing from a non-specific metabolic disorder index to a specific pathogenic gene source is achieved, and the purpose of providing an integrated screening and auxiliary diagnosis solution for neonatal genetic diseases is achieved.

The invention discloses a single-gene hereditary cardiovascular disease related gene detection probe group, a kit and an application of the single-gene hereditary cardiovascular disease related gene detection probe group. The probe group is a specific probe which is selected from exon regions of genes such as ABCC9, ABCG8, ACADM, ACADS, ACADVL, ACTA2, ACTC1, ACTN2, ACVRL1, AGK, AGL, AGXT, AIFM1 or ALMS1 and the like, and 20-30 bp intron regions on the upstream and downstream of the exon regions of the genes such as ABCC9, ABCG8, ACADM, ACADDS, ACADVL, ACTA2, ACTC1, ACTN2, ACVRL1, AGK, AGL, AGXT, AIFM1 or ALMS1. The detection probe and the kit provided by the invention can accurately detect exon regions of 268 pathogenic gene variations related to the single-gene hereditary cardiovascular disease, intron regions of 20-30 bp upstream and downstream of exon and copy number variations of pathogenic genes, under the average 1G data volume, the nuclear genome coverage depth reaches 200 * on average, the 30 * coverage degree reaches 99%, and the detection sensitivity is high. The detection sensitivity of low-frequency mutation in a target area is improved, the detection cost is effectively controlled, an experimental system is stable, and the discrete coefficient of library results among samples is less than 10%.