95 results about "Genetic diagnosis" patented technology

The invention provides a drainage pipe network pollutant tracing method and system based on multi-level monitoring and a medium, and the method comprises the following steps: obtaining sampling data which is periodic data; inputting the sampling data into a trained water gene diagnosis model to obtain a diagnosis result; a target result is extracted based on the diagnosis result, so that target monitoring data are obtained based on the conductivity monitoring equipment of the drainage subarea corresponding to the target result, and the target result comprises that it is determined that the drainage subarea is polluted; and identifying a final target area based on the target monitoring data, wherein the target area comprises a pollutant source area. According to the drainage pipe network pollutant traceability method and system based on multi-level monitoring and the medium, through a low-cost efficient monitoring network, a wider area can be covered, more comprehensive water quality monitoring is achieved, the water quality problem can be found and solved in time, and the water quality monitoring efficiency is improved. And the overall operation and maintenance cost is reduced while the measurement precision and reliability are ensured.

Disclosed is a genetic diagnosis chip. The genetic diagnosis chip includes one or more unit processing parts, wherein the unit processing part includes a pretreatment unit that loads a sample and performs a pretreatment process on a target material in the loaded sample, and a distribution unit which is located radially outward from the pretreatment unit and in which the target material pretreated through the pretreatment unit is distributed and detection of the distributed target material is performed, the pretreatment unit includes a sample loading unit that loads the sample, and a capture channel which captures the target material from the loaded sample, and the sample loading unit is formed on the capture channel.

The application discloses a kit for diagnosing systemic lupus erythematosus, which is lanosterol lipid metabolite key enzyme CYP51A1, the expression amount of the transcription level of the lanosterol lipid metabolite key enzyme CYP51A1, and the cDNA sequence of the lanosterol lipid metabolite key enzyme CYP51A1 is shown as SEQ ID No. 1. The kit for diagnosing SLE provided by the application comprises CYP51A1 gene primers and primers of a housekeeping gene GAPDH, a standard product and amplification reagents. The application overcomes the defect that SLE gene diagnosis cannot be diagnosed. The application adopts a real-time fluorescent quantitative PCR method, has the characteristics of rapidness, sensitivity, accuracy and the like, the expression of CYP51A1 is detected through real-time fluorescent quantitative PCR, important basis and reference value can be provided for clinical diagnosis of diseases, thus being beneficial to the formulation of a treatment scheme of the disease, and having popularization and application value.

The invention provides a kit for detecting Leber hereditary optic neuropathy and application, and relates to the technical field of biology. The kit comprises: (1) an alkaline lysis solution for releasing mitochondrial DNA in a blood sample; (2) an RPA isothermal amplification reaction system for amplifying the target sequence, wherein the RPA isothermal amplification reaction system comprises an RPA amplification primer; (3) a CRISPR-Cas12a (Clustered Regularly Interspaced Short Palindromic Repeats / Cas12a) system for carrying out high-specificity cutting on a mutation site, wherein the CRISPR-Cas12a system comprises crRNA (Complementary Ribonucleic Acid); and (4) lateral flow chromatography test paper for realizing visual detection. By simplifying the detection process, the kit greatly improves the accessibility of gene diagnosis, so that the gene screening technology can break through the limitation of traditional equipment and is popularized to a wider application scene, and the development of the gene diagnosis technology in the direction of portability, low cost and high precision is promoted. The innovation not only brings a convenient detection tool for gene mutation screening, but also lays a foundation for future gene therapy and personalized medical treatment.

The invention relates to the technical field of molecular genetics, in particular to application of a variation site group in genetic diagnosis of congenital megacolon. According to the application, a variation site group comprises at least one RET variation site and / or at least one PLK5 variation site; the RET variation site comprises rs1800858 and / or rs1800861, and the RET variation site comprises rs1800858 and / or And the PLK5 variation site comprises at least one of the following sites: rs10853954, rs265282 and rs12984316. The variation site group used by the application can be used as a biomarker of the congenital megacolon, so that the high-risk congenital megacolon can be effectively predicted.

The invention provides a product for gene detection of congenital central pulmonary insufficiency syndrome and application of the product, namely, a method for screening patients with the congenital central pulmonary insufficiency syndrome is established on the basis of obtaining an SNP (Single Nucleotide Polymorphism) which can cause the congenital central pulmonary insufficiency syndrome through screening. Wherein the SNP site is located at the 194th site of a nucleotide fragment of which the nucleotide sequence is SEQ ID NO: 1, and is Tgt; c mutation. On the basis that the SNP which can cause the congenital central pulmonary insufficiency syndrome is obtained through screening, a method for screening the congenital central pulmonary insufficiency syndrome patient is established, so that an effective CCHS gene diagnosis approach is provided, and the CCHS can be quickly and accurately diagnosed. The method disclosed by the invention has the advantages of high sensitivity, strong specificity, simplicity and convenience in operation and the like, and is suitable for early diagnosis and genetic counseling of the CCHS.

The invention relates to a detection marker and a detection device for identifying primary and intrawall metastasis of esophageal multifocal squamous carcinoma, and belongs to the technical field of cancer detection markers. According to the invention, a detection site set composed of 20 genes is constructed, and the gene diagnosis purpose of distinguishing primary and intrawall metastasis of esophageal multi-lesion squamous cell carcinoma is realized by analyzing the difference of mutation types on lesions.

The present invention provides a mutant gene, detection and application that causes 3-methylglutaconic aciduria type VII. The mutant gene that causes 3-methylglutaconic aciduria type VII includes a compound heterozygous mutation at the CLPB:NM_030813.6:exon8:c.1016T>G:p.L339R site and the exon1:c.130delG:p.E44Sfs*5 site. The mutant gene can effectively distinguish patients with 3-methylglutaconic aciduria type VII from the normal population. Therefore, the pathogenic gene mutation of the present invention can be used as a biomarker for diagnosing 3-methylglutaconic aciduria type VII. The present invention can be used for screening or diagnosing the genetic diagnosis of 3-methylglutaconic aciduria type VII by detecting whether the subject carries the above-mentioned mutation. The detection kit provided by the present invention can be used to quickly and effectively predict or diagnose 3-methylglutaconic aciduria type VII.

The invention relates to a gene diagnosis technology, in particular to a kit for detecting phenylketonuria pathogenic genes and application of the kit, the kit comprises a reagent for detecting PAH pathogenic mutants, and the PAH pathogenic mutants are characterized in that in a coding region of a nucleotide sequence shown as the accession number NM000277.3, the 721st basic group is mutated into C from T, and the 741st basic group is mutated into G from T; the reagent is a primer. According to the invention, a new mutation site of the phenylketonuria virulence gene is found, and the research of the phenylketonuria virulence gene is enriched; the kit provided by the invention contains a reagent for detecting the new mutation site, is found for the first time in the prior art, is simple in structure, can more conveniently and quickly detect the pathogenic gene of phenylketonuria, and increases a new clinical detection product.

The invention belongs to the technical field of biological information detection, provides a genetic detection method, system, product and equipment before embryo implantation, and aims to solve the problems that a conventional genetic detection process before embryo implantation is complicated, depends on a complete family sample, is difficult to distinguish equilibrium translocation and unbalanced translocation, is low in linkage analysis efficiency, needs to independently detect items and the like. According to the method provided by the invention, parent haplotypes can be constructed on the basis of monomolecular length reading sequencing data of male parents, female parents and to-be-implanted embryo samples in families, sequence similarity is analyzed on the basis of the parent haplotypes, and the to-be-implanted embryo samples can be obtained by tracing genetic sources of the haplotypes of the to-be-implanted embryo samples. And determining whether the to-be-implanted embryo carries the single-gene genetic disease and / or chromosome structure rearrangement or not. According to the method, integrated detection of aneuploidy, monogenic hereditary diseases and chromosome structure rearrangement before embryo implantation can be completed on a single platform, and whether the embryo to be implanted has genetic defects or not can be quickly, simply, efficiently and accurately judged in a one-stop manner.

The invention belongs to the field of gene diagnosis, and particularly relates to a liver cancer detection reagent based on OTX1. The reagent comprises a detection reagent for OTX1 gene methylation, and the detection reagent is used for detecting the modified sequence of the OTX1 gene. Experiments prove that the detection reagent disclosed by the invention can detect and diagnose liver cancer with high sensitivity and high specificity, and has extremely high clinical application value.

The present invention provides a polypolypeptide gene vector and a preparation method and application thereof, wherein the polypolypeptide gene vector comprises nanospheres formed by self-assembly of triblock polypolypeptides, wherein the triblock polypolypeptides comprise polyethylene glycol, polylysine and polyleucine connected in sequence; one end of the polylysine is connected to the polyethylene glycol via an amide bond, and the other end of the polylysine is connected to the polyleucine via a peptide bond. The polypolypeptide gene vector of the present invention can efficiently load the target gene in the polypolypeptide gene vector, and can form stable gene particles with high encapsulation rate and high load; the obtained polypolypeptide gene vector can produce a protonated sponge effect inside the lysosome to promote the lysosomal escape of the target gene and prevent the target gene from being degraded in the lysosome. It has important application prospects in the fields of gene editing, gene diagnosis, gene therapy and gene vaccines.

The invention aims to provide a gene identification method for an A-type variant blood group in an ABO blood group system, namely, a screening method for the A-type variant blood group is established on the basis that an SNP site which can cause wrong typing of the ABO blood group is obtained through screening. The SNP sites are located at 188-190 sites of an A subtype gene with a nucleotide sequence of SEQ ID NO: 1, and are A deletion. The invention provides a new application of ABO blood type A variant gene detection, thereby providing a gene diagnosis, prenatal gene screening and genetic counseling approach for effectively avoiding blood type error typing and acute hemolytic transfusion reaction. The application effect shows that the SNP site of the gene and the detection primer provided by the invention can be effectively used for rapid detection of the ABO blood type A variant gene mutation site in peripheral blood of a clinical patient.

The present invention relates to the technical field of molecular diagnosis, and in particular to a use of an HSF2 gene as a diagnostic marker in the preparation of a product for diagnosing polycystic ovary syndrome (PCOS). It is found that the HSF2 gene or an HSF2 protein can be used as a diagnostic marker for PCOS. Compared with a healthy control group, the transcription of HSF2 in the peripheral blood of a PCOS patient and an offspring thereof is significantly elevated, thereby showing a statistical difference. On the basis of sequencing data of the HSF2 gene, an ROC curve for diagnosing PCOS offspring inheritance on the basis of the HSF2 gene is established, and an AUC value is 0.8384. Results show that the HSF2 gene as a diagnostic marker can implement diagnosis or prediction of PCOS, especially diagnosis or prediction of PCOS in an offspring, and has high accuracy, thereby providing a new basis for effective diagnosis of PCOS.

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 application belongs to the technical field of gene diagnosis and treatment, and particularly relates to application of PIP4K2C gene in breast cancer detection, wherein the kit comprises a solid carrier and a detection reagent coated on the solid carrier, and the detection reagent is used for detecting PIP4K2C gene or PIP4K2C protein. The PIP4K2C gene and its protein expression product in the application can be used as a specific marker for diagnosing breast cancer. The small interfering RNA designed according to the PIP4K2C gene in the application can also be used as a gene therapy tool for treating breast cancer, thereby providing a new breast cancer treatment approach.

The invention discloses a double-probe and primer composition for detecting HLA-B * 58: 01 alleles, and relates to the technical field of biotechnology and genetic diagnose.The double-probe and primer composition detects the HLA-B * 58: 01 alleles with non-diagnosis and non-treatment as the purpose through the following steps that template DNA is extracted from anticoagulation; performing real-time quantitative qPCR (quantitative polymerase chain reaction) amplification by taking the DNA extracted in the step 1 as a sample DNA; during qPCR amplification, FAM, HEX and CY5 three-channel fluorescence signals are respectively collected in real time, and HLA-B * 58: 01 alleles of a sample to be detected are analyzed; compared with the existing single-probe detection, the double-probe and primer composition for detecting the HLA-B * 58: 01 allele has the advantage that the detection accuracy and reliability can be remarkably improved by simultaneously using two specific probes.

The present application belongs to the technical field of biological information detection, and provides a pre-implantation genetic diagnosis method, system, product and equipment. The present application is aimed at the problems of complex traditional pre-implantation genetic diagnosis process, dependence on complete family sample, difficulty in distinguishing balanced translocation and unbalanced translocation, low linkage analysis efficiency, and the need for independent detection, etc. The method provided by the present application can be based on single molecule long read sequencing data of the paternal sample, the maternal sample and the to-be-implanted embryo sample in the family, construct the parental haplotype, and analyze the sequence similarity based on the same. By tracing the genetic source of the haplotype of the to-be-implanted embryo sample, it is determined whether the to-be-implanted embryo carries a monogenic genetic disease and / or a chromosome structure rearrangement. The present application can complete the integrated detection of pre-implantation aneuploidy, monogenic genetic disease and chromosome structure rearrangement on a single platform, and quickly, simply, efficiently and accurately determine whether the to-be-implanted embryo has genetic defects.

The invention relates to the technical field of gene diagnosis, and particularly discloses PRX and DIAPH3 gene mutants and application thereof. On one hand, the invention relates to a PRX gene mutant and application thereof in Dejerine-Sotta disease screening, and on the other hand, the invention relates to a DIAPH3 gene mutant and application thereof in autosomal dominant auditory neuropathy 1 type screening. According to the invention, the pathogenic gene spectrum of autosomal dominant auditory neuropathy type 1 and Dejerine-Sotta disease is broadened, the understanding of clinical doctors on the diseases is enhanced, experience is provided for clinical screening and diagnosis of the diseases, and particularly, pre-pregnancy screening is facilitated; a research direction and a new theoretical basis are provided for early diagnosis and effective treatment of the diseases, and a new molecular target is also provided for research and development of specific drugs for treating the diseases in practice.

The present invention relates to a method for measuring changes in pyrophosphate ion concentration in polymerase chain reactions by using electrochemical methods. According to the present invention, the disclosed PCR amplification measurement method comprises the steps of: injecting, into a PCR container, a PCR sample including a template nucleic acid and a PCR reagent; mounting, in the PCR container, a connector to which an electrode is connected; performing PCR in the PCR container; and using an electrochemical sensor device to measure an electrochemical signal generated in the step of performing PCR. The present invention can sensitively and accurately measure DNA amplification. In addition, amplification can be measured regardless of structural shape such as a double or single strand of nucleic acid, and since measurement is performed using EIS, which is an electrochemical method, equipment can be miniaturized and gene amplification can be accurately detected during PCR. In particular, since changes in pyrophosphate exponentially generated in a PCR amplification process can be measured, sensitivity significantly higher than that of a conventional electrochemical measurement method can be achieved. Therefore, the PCR amplification measurement method of the present invention solves the limitations of a conventional rapid antigen diagnosis method and fluorescence measurement-based PCR gene diagnosis method, and thus can be utilized as a foundational technique for electrochemical PCR gene diagnosis.

The invention relates to an osteoarthritis AI (osteoarthritis) prediction method based on NETs (neutrophile granulocyte extracellular traps) related key genes, and aims to develop a model universally applicable to gene diagnosis or molecular diagnosis by analyzing and disclosing a large sample data set through an advanced algorithm by utilizing ML (makeup language) to reveal genetic regulation of neutrophile granulocyte extracellular traps (NETs) in joint tissues. Therefore, the optimal algorithm needs to be compared and screened by using multiple algorithms during modeling, the gene (molecule) diagnosis efficiency is improved by combining the algorithms on the basis, key genes which can best reflect OA characteristics and are driven by NETs (key gene characteristics related to the NETs) are selected, and the disease-related genes and the relationship between the disease-related genes and disease phenotypes are identified, so that the disease-related genes are identified. Therefore, understanding of interaction of biological components is deepened, and diagnosis and treatment strategies are improved.

The present invention relates to a molecular marker, a kit and an application for diagnosing sperm head malformation, belonging to the technical field of gene diagnosis. By collecting genomic DNA samples from patients with abnormal sperm and healthy controls, whole-exome sequencing was performed, and a gene mutation site significantly associated with sperm head malformation was screened out, that is, the first base of the intron downstream of exon 5 of the polypeptide N-acetylgalactosaminyltransferase-like protein 5 encoding gene GALNTL5. Specific amplification primers were designed for this gene mutation site, which can be used to prepare a diagnostic kit for sperm head malformation, and applied to screen patients with sperm head malformation, providing more accurate diagnosis and treatment guidance for infertility caused by teratospermia, and also providing a new theoretical basis for the treatment of patients with sperm head malformation.

The invention relates to a nucleic acid detection system based on glass nanopores and nanomanipulation as well as a preparation method and application of the nucleic acid detection system, and belongs to the technical field of biology. Aiming at the technical problems of difficulty in signal capture, incapability of realizing accurate space positioning and insufficient complex structure detection accuracy caused by too high nucleic acid translocation speed in the existing nanopore technology, a DNA chip is combined with a nanomanipulation technology. A modified glass chip of which the surface is fixed with double Gap double-stranded DNA is constructed, a glass nanopore is matched, an electric field is applied by utilizing a patch clamp system, and a piezoelectric ceramic nano displacement platform is combined to realize accurate control on a DNA structure. According to the method, fixed-point capture, multiple repeated detection and accurate distinguishing of sequences with different lengths of nucleic acid are realized, the detection limitation of a traditional nanopore technology on a complex nucleic acid structure is solved, and the method has important application value in the fields of gene diagnosis and nanopore sequencing.

The invention discloses a sample collection device for newborn inherited metabolic disease gene diagnosis, and relates to the technical field of blood sample collection, the sample collection device comprises a blood sample collection card, the blood sample collection card is provided with a blood sample protection assembly, and the blood sample protection assembly is composed of a connecting paperboard, a covering paperboard and a protection film; the two covering paperboards are fixedly installed at the two ends of the connecting paperboards respectively, the two protective films are fixedly installed at one ends of the two connecting paperboards respectively, a protective assembly limiting structure is slidably installed on the blood sample collection card, and the protective assembly limiting structure is composed of a connecting base rod, a limiting connecting plate and a limiting baffle. According to the blood sample collection card, the blood sample protection assembly is arranged on the blood sample collection card and can protect a blood sample collected on the blood sample collection card, so that blood spots on the blood sample collection card can be prevented from making contact with foreign objects in the transferring, transporting and storing processes of the blood sample collection card, and then the blood spots can be prevented from being polluted; and finally, the accuracy of a detection result can be ensured.

The invention belongs to the technical field of gene diagnosis, and discloses an SLC16A2 gene mutant and application of the SLC16A2 gene mutant in AHDS disease risk analysis. The specifically disclosed SLC16A2 gene mutant is any one of nucleic acid, a target fragment exists in the nucleic acid, and compared with a wild type SLC16A2 gene with the sequence of SEQ ID NO.1, the target fragment has c.963964delinsAA mutation, and the target fragment has c.963964delinsAA mutation. Compared with a protein coded by a wild type SLC16A2 gene with a sequence of SEQ ID NO.2, the polypeptide has p.Y321 * mutation. Meanwhile, the invention discloses application of a reagent for detecting the SLC16A2 gene mutant in preparation of a product for screening AHDS. According to the invention, the pathogenic gene spectrum of the AHDS is expanded, the cognition of a clinician on the disease is improved, experience is accumulated for clinical screening and diagnosis of the disease, and a basis is provided for prenatal diagnosis.

The utility model relates to the technical field of kits, and discloses a prostate cancer polygene diagnostic kit based on exosomes, a material pushing mechanism is arranged on a polygene diagnostic kit body, fixing mechanisms are arranged on the polygene diagnostic kit body and a kit cover, the material pushing mechanism comprises a moving assembly and a rotating assembly, the moving assembly comprises a sliding groove, and the rotating assembly comprises a rotating shaft. Placing grooves are densely formed in the top of the placing plate, springs are fixedly connected to the bottom of the placing plate and the bottom of the inner wall of the multi-gene diagnostic kit body, and a long plate is fixedly connected to the back of the placing plate. According to the prostate cancer multi-gene diagnostic kit based on the exosome, the pushing mechanism and the fixing plate are moved out of the square groove, limitation on the position of the connecting plate can be cancelled, a limiting plate is conveniently pulled to move out of the top end of a long plate in the later period, and when the limiting plate moves out of the top of the long plate, under the rebound acting force of a spring, the limiting plate can move out of the long plate. The reagent tube placed in the placing groove can be pushed upwards, so that the reagent tube can be directly taken conveniently.

The utility model relates to the technical field of kits, and discloses a gene diagnosis kit for high-throughput sequencing, which comprises three stacked placing boxes and a counterweight bottom plate, the three placing boxes are respectively a lower box body, a middle box body and an upper box body, T-shaped slide rails are arranged on two sides of the top of the counterweight bottom plate, two sides of the top of the lower box body and two sides of the top of the middle box body, and the counterweight bottom plate is provided with a lower box body and a middle box body. T-shaped sliding grooves are formed in the two sides of the bottom of the lower box body, the two sides of the bottom of the middle box body and the two sides of the bottom of the upper box body correspondingly, baffles are fixedly connected to the tops of the two ends of the balance weight bottom plate correspondingly, positioning grooves are formed in the two sides of the three containing boxes correspondingly, and positioning assemblies are arranged on the sides, located on the containing boxes, of the baffles correspondingly. The positioning assembly comprises a supporting shaft, a connecting rod, a first spring, a positioning block, a pressing block and a locking assembly. Through the arrangement of the baffle and the positioning assembly, when a certain containing box is taken, the containing box can be taken out in a sliding mode only by pressing the pressing blocks on the two corresponding sides, and operation is more convenient.

Disclosed are compositions and methods for the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD) using nanopore sequencing and CRISPR / Cas9 enrichment of D4Z4 containing sequences to determine the number of repeats in a D4Z repeat region and methylation of the nucleotide bases in this region.

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.