16 results about "Susceptibility gene" patented technology

The present invention relates to a method for detecting and analyzing large-fragment rearrangements of germline genes, and in particular to a technology for detecting large-fragment rearrangements of the germline RB1 gene based on high-throughput sequencing, belonging to the field of bioinformatics technology. In the present invention, a subject's blood leukocyte sample is captured and sequenced using a panel with uniform coverage of the RB1 full exon and flanking exons. The analysis method described in the present invention is used to identify large-fragment rearrangements of the germline RB1 gene. The detection and analysis results are highly consistent with the ddPCR detection results, and are suitable for detecting and analyzing tumor susceptibility genes in subjects with familial hereditary retinoblastoma and other cancers.

The invention relates to the technical field of pneumoconiosis diagnosis, in particular to a pneumoconiosis risk prediction system and a pneumoconiosis susceptible gene chip detection kit thereof. The pneumoconiosis susceptible gene chip detection kit comprises a micro-fluidic chip and a PCR (Polymerase Chain Reaction) amplification reagent, a plurality of parallel sample introduction channels are arranged on the micro-fluidic chip, and two ends of each sample introduction channel are respectively communicated with a sample introduction hole and a sample discharge hole; the sample introduction channel is communicated with a plurality of connecting channels, and the connecting channels are communicated with a reaction tank; a primer combination is embedded in the reaction tank; and the PCR amplification reagent contains a universal probe. The pneumoconiosis susceptibility gene chip detection kit can be used for constructing a pneumoconiosis susceptibility risk prediction system. The pneumoconiosis risk prediction system provides a new pneumoconiosis risk prediction tool by innovatively combining genetic factors with macroscopic factors. According to the technical scheme, the technical problem that in the prior art, when the pneumoconiosis risk is predicted through genetic information, the detection operation process is tedious or the detection performance is not ideal is solved, and the ideal application and popularization prospect is achieved.

This invention provides a kit and detection method for detecting the Siglec fusion mutation gene and the GBS pathogenic gene. It is used for rapid combined detection of the Siglec5 / 14 fusion mutation gene, a preterm birth susceptibility gene, and the GBS pathogenic gene. It can effectively assess the risk of gynecological reproductive tract infections, preterm birth in pregnant women, and infection in newborns. It solves the problem that existing kits only detect the conditionally pathogenic bacteria and have poor specificity for disease association. The detection using this kit is faster and more sensitive. The detection process is closed-loop, avoiding the additional operation of electrophoresis differentiation. It is low-cost and easy to promote.

The invention discloses a kit for screening cerebral arterial thrombosis risk and a screening method, and belongs to the technical field of biological detection. The kit for screening the cerebral arterial thrombosis risk is a kit for detecting gene mutation of a C677T site of an MTHFR gene and comprises a forward primer and a reverse primer, the sequence of the forward primer is shown as SEQ ID NO.1, and the sequence of the reverse primer is shown as SEQ ID NO.2. The kit for screening the cerebral arterial thrombosis risk is a kit for detecting gene mutation of the C677T site of the MTHFR gene. The invention creatively finds that the gene polymorphism of the C677T site of the MTHFR gene has certain relevance with the disease of the cerebral arterial thrombosis, the site mutation is one of high-risk factors of the cerebral arterial thrombosis, and the A1298C site mutation of the MTHFR gene is not obviously associated with the susceptibility of the cerebral arterial thrombosis. The risk of the cerebral arterial thrombosis is evaluated by screening a susceptibility gene locus, the operation is simple, the cost is reduced, the prevention of the cerebral arterial thrombosis is enhanced, and the incidence rate of the cerebral arterial thrombosis is further reduced.

This invention discloses a method and system for selecting functional gene variant sites, relating to the field of gene site selection. The method includes: acquiring chromatin accessibility distribution information across the entire genome; performing convolutional block transformation based on the accessibility distribution information to obtain accessibility feature values; determining genomic information across the entire genome based on regulatory maps; determining an initial weight value set based on the accessibility feature values ​​and genomic information; the initial weight value set is a set of initial weight values ​​corresponding to each of the accessibility feature values ​​and genomic information; inputting the accessibility feature values, genomic information, and the initial weight value set into a site selection model, and outputting selected functional gene variant site information and regulated susceptibility gene information; the selected functional gene variant site information includes: site variant bases that meet set threshold conditions and their corresponding site coordinates; this invention can improve the selection efficiency of functional gene variant sites.

The invention relates to a capture probe group, a kit and a method for detecting hepatobiliary tumor genetic susceptibility gene polymorphism, and belongs to the technical field of biology. The nucleotide sequences of the capture probe group provided by the invention are as shown in SEQ ID NO. 1 to SEQ ID NO. 445; the hepatobiliary tumor genetic susceptibility gene comprises at least one of APC, ATM, ATR, BAP1, BRCA1, BRCA2, FANCA, MLH1, MSH2, MSH6, PALB2, PMS2 and RAD51D. The invention also provides a kit containing the capture probe group and a detection method. The method has the advantages that the coverage area is wide, the embryonic line variation of all exon areas can be detected, the designed capture probe covers the full coding area sequence of the related gene, the coverage degree of the target area reaches 100%, and the average sequencing depth reaches 100 *.

The invention belongs to the technical field of clinical gene screening in obstetrics, particularly relates to a multiple PCR-NGS screening method for susceptible genes of intrahepatic cholestasis in pregnancy based on a saliva sample, and aims to solve the problems of high cost and long time consumption of existing ICP gene Panel detection. Specific primers of 40 high-frequency mutation sites of 9 ICP susceptible genes are designed, a sequencing library is constructed through two rounds of PCR amplification and magnetic bead purification, and mutation information is obtained through NGS sequencing and data analysis. The method is non-invasive and adapts to pregnancy requirements, the detection cost and time can be reduced, susceptible gene mutation can be screened out, and support is provided for genetic etiological investigation and clinical intervention of severe and refractory ICP (inductively coupled plasma).

The invention relates to a primer group, a kit and a method for detecting a Fabry cardiomyopathy genetic susceptibility gene, and belongs to the technical field of gene detection. The genetic susceptibility gene of the Brie cardiomyopathy is a GLA gene, and the mutation site of the genetic susceptibility gene is c.640-801Ggt; a; the primer group comprises a PCR (Polymerase Chain Reaction) amplification primer group, and the amplification primer group comprises a forward PCR amplification primer and a reverse PCR amplification primer; the primer group further comprises a Sanger sequencing primer group, and the sequencing primer group comprises a forward sequencing primer and a reverse sequencing primer. The invention also provides a kit and a detection method based on the primer group. According to the primer group and the kit containing the primer group, the c.640-801Ggt of the Fabry cardiomyopathy GLA gene can be detected on the basis of a first-generation sequencing technology; a site mutation has important value for early screening detection and genetic risk assessment of the disease gene.

This invention provides a susceptibility gene for Th2-type asthma, a drug for it, and its application. The susceptibility gene is ALOX15, and the drug is an inhibitor of ALOX15 expression. This invention is the first to discover the relationship between ALOX15 and its main product, 15-HETE-PE, and Th2-type asthma. Inhibition of ALOX15 expression significantly reduces eosinophil expression and the number and percentage of eosinophils in blood and bronchoalveolar lavage fluid. Therefore, specific treatment targeting ALOX15 can serve as a novel treatment for asthma. The drug of this invention effectively reduces eosinophil count in animal and cell experiments, achieving a therapeutic effect for Th2-type asthma. This is a significant advantage compared to some refractory asthma patients whose eosinophil count cannot be reduced to normal levels with existing treatments.

The invention relates to a gene combination for detecting hemangioma and vascular malformation and application thereof. 62 genes Panel closely related to hemangioma and vascular deformity are excavated, and the Panel comprises a DNA detection gene and an RNA detection gene, and can be effectively applied to identification of hemangioma and vascular deformity driving gene mutation, genetic susceptibility genes and fusion genes which possibly exist, so that pathologists are guided to clear pathological diagnosis and typing; according to the gene detection panel for the hemangioma and the vascular malformation, the target treatment selection and genetic risk evaluation and screening of a patient are guided, the blank of lack of the gene detection panel special for the hemangioma and the vascular malformation at present is filled, the detection rate and sensitivity of the hemangioma and the vascular malformation are improved, and the problems of misdiagnosis and missed diagnosis caused by easy omission of the current detection panel are effectively solved.

The invention relates to the field of bioinformatics, in particular to a susceptibility gene visualization decision support system and a method thereof.According to the system, a multi-level heterogeneous network of family and gene variation is constructed, topological feature extraction and Laplacian spectrum analysis are combined, a high-risk variation transmission path is recognized, and a high-risk variable transmission path is obtained; multi-scale persistent homology analysis is utilized to reveal risk structure hierarchies, dynamic display of a family-gene association map is realized through interactive visualization, finally, a risk hierarchy tree and a clinical knowledge base are integrated, accurate clinical decision support is provided for users, a complete analysis process from data to decision is realized, and the risk analysis efficiency is improved. A multi-level heterogeneous network is constructed based on a topology invariant theory, and integration expression of family relationship and gene variation data in a unified topology space is realized for the first time, so that doctors can intuitively understand distribution and association modes of variation in families.

The present invention discloses the application of the citrus CsGGP2 gene in improving resistance to citrus canker and breeding for resistance in citrus, belonging to the field of molecular breeding technology. The present invention discloses for the first time that significantly reducing the expression level of the citrus CsGGP2 gene can significantly improve citrus resistance to canker, and that the greater the degree of reduction in CsGGP2 gene expression, the stronger the citrus canker resistance. When the expression level is reduced to 2% of that of wild-type citrus, the lesion area is reduced to 53% of that of the wild-type. The reduction in the transcription level of the citrus CsGGP2 gene does not significantly affect the phenotype and development of the plant. The provided citrus CsGGP2 gene can be used as a candidate gene for studying resistance to citrus canker and can be used independently in molecular breeding for resistance to citrus canker or in combination with other resistance or susceptibility genes for molecular breeding of citrus canker resistance, thus having important application value.

1. Name of the product of this design: Packaging box (abdominal aortic aneurysm susceptibility gene screening kit). 2. Purpose of this design product: For outer packaging of abdominal aortic aneurysm susceptibility gene detection reagents. 3. The key design point of this design product lies in the pattern. 4. The picture or photo that best illustrates the key points of the design: main view.

The invention provides an asthma susceptibility gene, a medicine thereof and application of the medicine. The susceptibility gene is SGLT2. The medicine is an inhibitor canagliflozin of SGLT2. The potential causal association between the hypoglycemic drug canagliflozin and the asthma risk is found for the first time, the canagliflozin can significantly improve Th2 type airway inflammation, goblet cell metaplasia and pulmonary interstitial collagen deposition, the treatment effect is significant, and the anti-inflammatory protection effect is related to a PI3K / AKT pathway.

The invention relates to the technical field of agricultural biological genes, and discloses a method for improving citrus yellow vein disease resistance by using a lemon clSKP1A gene, which comprises the following steps: (1) cloning a lemon clSKP1A gene segment; (2) constructing an overexpression vector; and (3) transforming the overexpression vector into citrus to obtain a lemon clSKP1A gene overexpression transgenic plant. The overexpression vector of the lemon clSKP1A gene is constructed, then citrus is transformed, the obtained citrus plant can show obvious resistance to the citrus yellow vein disease, the virus accumulation amount of the citrus yellow vein disease is obviously reduced, root growth is facilitated, and the yield of the citrus yellow vein disease is improved. The gene can be used as a candidate gene to cooperate with a plurality of citrus yellow vein disease resistant and susceptible genes for citrus yellow vein disease resistant breeding, and has great application value for citrus yellow vein clearing virus resistant breeding of citrus.

The utility model discloses an abdominal aortic aneurysm susceptibility gene screening kit which comprises a tool box and an L-shaped working box, the L-shaped working box comprises a vertical part and a horizontal part, and the tool box is located on the horizontal part of the L-shaped working box; a plurality of clamping grooves are formed in the bottom in the horizontal part of the L-shaped working box, reagent strips are arranged in the clamping grooves, sample application areas, a strip I and a strip II are arranged on the reagent strips, sample adding holes are formed in the vertical part of the L-shaped working box and correspond to the reagent strips respectively, rotating covers are arranged on the sample adding holes, and bottom outlets of the sample adding holes correspond to the sample application areas of the reagent strips up and down. And a drawable baffle is arranged at the bottom of the sample adding hole. The kit is provided with a plurality of sample adding holes and a plurality of reagent strips, so that multi-gene joint detection is realized at the same time, and the detection result is more accurate.