61 results about "Genetic diagnosis" patented technology

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 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 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 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 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 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 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.

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.

The invention belongs to the technical field of gene diagnosis, and particularly discloses SLC16A2 and PHEX gene mutants and application thereof. On one hand, the invention relates to an SLC16A2 gene mutant and an application thereof, in particular to an application of SLC16A2c. 963964deinsAA mutation in a product for screening the Allan-Herdon-Dudley syndrome, and in particular relates to an application of SLC16A2c. 963964deinsAA mutation in a product for screening the Allan-Herdon-Dudley syndrome. On the other hand, the invention relates to a PHEX gene mutant and application thereof, in particular to application of PHEX c.112113insA mutation in products for screening X-linked hypophosphatemia vitamin D rickets. According to the invention, the pathogenic gene spectrum of Allan-Herdon-Dudley syndrome and X-linked hypophosphate vitamin D-resistant rickets is broadened, the understanding of clinical doctors on the disease is enhanced, experience is provided for clinical screening and diagnosis of the disease, and a basis is also provided for prenatal diagnosis.

The present invention provides compositions and methods using APOE4 motif-mediated genes and expression products thereof for diagnosis, treatment and prevention of Alzheimer's disease and mild cognitive impairment. The present invention also relates to a method of identifying therapeutic agents to treat and diagnose Alzheimer's disease or mild cognitive impairment based on APOE4 motif-mediated genes.

The invention provides a recognition method of an endometriosis biomarker based on machine learning and WGCNA (White Graphical Cell Nucleic Acid). The method comprises the following steps: constructing a lactic acid related gene diagnosis model of endometriosis; an analysis process of a patient type of the endometriosis and an immune-related function of the endometriosis is constructed; and constructing a lactic acid related gene regulation and control network of endometriosis and a lactic acid related gene targeting small molecule compound network. On the basis of endometriosis biomarkers, consensus clustering analysis and immune cell and immune function analysis are adopted, subtype classification of endometriosis is provided, and an immune target treatment strategy is provided for endometriosis patients of different subtypes.

The application discloses a TECTA gene mutant and application thereof, and relates to the technical field of molecular biology. The nucleotide of the TECTA gene mutant has a c.235G>C mutation relative to the nucleotide of a wild type TECTA gene, and the encoded protein has a p.Val79Leu mutation relative to the protein expressed by the wild type TECTA gene. The application also provides application of a primer pair for detecting the TECTA gene mutant in preparation of a DFNA8 / 12 pathogenic gene diagnostic reagent or a DFNA8 / 12 pathogenic gene diagnostic kit. The TECTA mutant gene provided by the application is a pathogenic variation of autosomal dominant deafness 8 / 12, and the diagnostic reagent or the kit can be used for genetic deafness screening, has important clinical application value for filling the blank of the prior art and promoting precise diagnosis and treatment of TECTA related genetic deafness.

The invention belongs to the technical field of molecular biology, and particularly relates to a POU3F4 gene mutant and application thereof. The nucleotide of the POU3F4 gene mutant has c.703Tgt relative to the nucleotide of a wild type POU3F4 gene; a mutation. The POU3F4 mutant gene provided by the invention is a novel pathogenic variation of type 2 X-linked hereditary hearing loss, and the pathogenic variation can be used for screening DFNX2 female carriers which are asymptomatic or slight in phenotype but difficult to find in daily life; and gene diagnosis is carried out on male patients, so that a scientific operation scheme is provided for hearing intervention.

The application belongs to the technical field of gene diagnosis, and discloses a new pathogenic gene CYLC1 of sperm head deformity and a mutation detection reagent thereof; the new pathogenic gene CYLC1 of sperm head deformity is used as a candidate gene diagnosis object of sperm head deformity, and four homozygous missense mutations thereof are c.1157A>C / p.N386T, c.1377G>T / p.K459N, c.1402T>G / p.S468A and c.1834T>A / p.C612S. The application can use the detection reagent to perform simple, fast and accurate gene diagnosis on sperm head deformity patients, and is also helpful for understanding pathogenesis, genetic counseling, prenatal diagnosis and gene therapy. The application can also use the established Cylc1 gene knockout mouse model to reveal the role and mechanism of Calicin-1 protein on sperm acrosome anchoring and head development of mammals.

The invention discloses a centrifugal micro-fluidic chip for liquid drop digital nucleic acid amplification detection, the centrifugal micro-fluidic chip comprises a disc body and an adaptive pressure-sensitive adhesive film layer, and the disc body comprises a sample loading area arranged at the periphery of a centrifugal shaft hole; the front end of the extraction channel is connected to the sample loading area, and the rear end is connected with the switching valve; the magnetic bead nucleic acid extraction area is distributed on the outer edge of the extraction channel and is provided with an embedded magnet array; the collecting cavity is connected to the output end of the switching valve; a quantitative distribution channel; a gelatin-based thermosensitive valve; and the plurality of water-in-oil droplet generation and reaction cavities are annularly and uniformly distributed at the edge of the disc body and are communicated with the collection cavity. The chip realizes full-process automation of nucleic acid extraction, droplet generation and amplification detection through cooperation of centrifugal force and a functional structure, is simple and convenient to operate, high in sensitivity and accurate in result, and is suitable for the fields of gene diagnosis, pathogen detection and the like.

The invention discloses a gastric cancer detection kit and application thereof in the field of gene diagnosis, the kit is a fluorescent quantitative PCR kit for detecting a gastric cancer diagnosis marker gene, the kit comprises reagents and consumables, and the reagents comprise a reaction premix solution, an upstream detection primer, a downstream detection primer, an internal reference system and RNase-Free ddH2O; the consumable comprises a PCR eight-connection tube and an elisa plate. The fluorescent quantitative PCR kit with high sensitivity and high specificity for the gastric cancer is developed by designing a primer aiming at the lncRNA gene in non-coding RNA, so that a convenient means for early diagnosis and prognosis evaluation of the gastric cancer is provided, the potential relationship between the lncRNA RP11-731F5.2 gene and the gastric cancer and the prognosis condition of the gastric cancer is disclosed, and the kit has a good application prospect. And effective guidance is provided for treatment of gastric cancer patients.

The invention discloses a disease-causing gene variation site accurate identification method for bioengineering, and relates to the technical field of gene diagnos.The method comprises the steps that a sampling sequence of a sampling gene is obtained, and a sample sequence of the sample gene is obtained; determining the length of the sampling segment and the distance between the adjacent sampling segments; classifying the sampling fragments into sampling variation fragments and sampling non-variation fragments; screening out a target sample gene corresponding to the sampling gene from the sample genes; setting comparison points on the sampling genes and the corresponding target sample genes respectively; comparing to obtain abnormal fragments in the sampled genes; forming a point location interval of the abnormal segment; and obtaining at least one variation site of sampling genes of the same kind. The target sample gene corresponding to the sampling gene is screened out, and the abnormal fragment in the sampling gene and the point location interval forming the abnormal fragment are obtained through comparison, so that the identification difficulty caused by increase or deletion of the basic group of the variant gene can be avoided, and the identification precision is ensured.

The invention relates to the technical field of gene diagnosis, and particularly discloses a liver cancer diagnostic kit based on a GBP2 gene and a detection method, the kit comprises an RNA extraction component used for extracting total RNA from a liver cancer or para-carcinoma tissue sample to obtain an RNA sample; the reverse transcription component is used for carrying out reverse transcription reaction on the RNA sample to obtain cDNA (complementary deoxyribonucleic acid); carrying out RT-qPCR detection on the components; the fluorescent dye premix liquid is used for carrying out real-time quantitative PCR amplification on the cDNA to obtain a GBP2 gene expression Ct (GBP2) value; the internal reference gene detection component comprises a GAPDH primer pair and is used for obtaining an internal reference Ct (GAPDH) value; the components are interpreted, delta Ct is obtained through calculation, a preset threshold value is compared with delta Ct, and the GBP2 expression level is obtained through judgment; the GBP2 is used as a liver cancer specific diagnosis marker, the detection rate of early liver cancer can be improved by detecting the expression level (such as mRNA or protein level) of the GBP2, and the gene is particularly suitable for AFP negative or low expression patients and has higher sensitivity and specificity.