17 results about "Genetic diagnosis" patented technology

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 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 present application relates to the technical field of biology, to the field of genetic diagnosis, and in particular to a grading model for detecting the benign and malignant degree of tumor and application thereof. The present application provides a grading model for detecting the benign and malignant degree of tumor and application thereof, which is used for observing the change of imprinting genes of tumor at single cell and tissue levels, so as to judge the benign and malignant degree of tumor. Meanwhile, the change of expression of imprinting genes and non-imprinting genes can be combined, so that the cancer type and the benign and malignant degree can be more accurately judged.

This invention relates to a gene diagnostic biomarker and kit for diagnosing refractory gastroesophageal reflux disease (GERD), belonging to the field of biomedical technology. The invention provides the application of a biomarker, NRF1 and / or NRF2, in the preparation of a diagnostic reagent for refractory GERD; a diagnostic reagent for diagnosing GERD, comprising reagents for detecting NRF1 and / or NRF2 expression; a diagnostic kit for diagnosing GERD, comprising reagents for detecting NRF1 and / or NRF2 expression; and the application of the reagent for detecting NRF1 and / or NRF2 expression in the preparation of a diagnostic reagent for refractory GERD, comprising primers for detecting NRF1 and / or NRF2 expression. This invention provides a reliable tool for the rapid and accurate diagnosis of refractory GERD.

The present application relates to the technical field of genetic diagnosis, and specifically discloses a TBC1D24 gene mutant and application thereof. Specifically disclosed are any one of the following TBC1D24 gene mutants: a nucleic acid TBC1D24, which has a c.677_680delCCCG mutation and a c.731C>T mutation compared with a wild-type TBC1D24 gene with a sequence of SEQ ID NO:1; a polypeptide TBC1D24, which has a p.A226Gfs*28 mutation and a p.A244V mutation compared with a protein encoded by a wild-type TBC1D24 gene with a sequence of SEQ ID NO:2. The application also discloses application of the TBC1D24 gene mutant in screening of familial infantile myoclonic epilepsy. The present application widens the pathogenic gene spectrum of familial infantile myoclonic epilepsy, strengthens the understanding of the disease by clinicians, provides experience for screening and diagnosis of the disease in clinic, especially for pre-pregnancy screening, provides a research direction and a new theoretical basis for early diagnosis and effective treatment of the disease, and also provides a new molecular target for developing specific drugs for treating the disease in practice.

This invention relates to the field of gene diagnostic technology, and in particular to the application of polymethylation site combination in the preparation of products for detecting, predicting or monitoring tumor development. This invention is the first to combine the detection of specific methylation sites of the SFRP2 gene with the detection of specific methylation sites of the SDC2 gene, and use it in the preparation of products for detecting, predicting or monitoring tumor development. Compared with the prior art, this invention (1) uses a set of primers and probes that correspond to only one specific methylation site, avoiding the instability of specificity and sensitivity that occurs in the prior art; (2) this invention combines the specific methylation sites of the SFRP2 gene with the specific methylation sites of the SDC2 gene for detection, which significantly improves the detection sensitivity and specificity.

The invention relates to the technical field of molecular biology and genetic diagnosis, and particularly discloses an RNA (Ribonucleic Acid) abnormal splicing verification method and a kit, the method comprises the following steps: extracting whole blood RNA and reversely transcribing the whole blood RNA into cDNA (Complementary Deoxyribose Nucleic Acid); the method comprises the following steps: by taking cDNA (complementary deoxyribonucleic acid) as a template, carrying out first-round PCR (polymerase chain reaction) amplification by using an outer primer pair as shown in SEQ ID NO.2 and SEQ ID NO.3, and covering No.17 to No.26 exons of the OTOF gene; carrying out electrophoresis preliminary judgment on an amplification product; after a product is recovered, carrying out a second round of nested PCR amplification by using an inner primer pair as shown in SEQ ID NO.5 and SEQ ID NO.6, and covering the 20th exon, the 20th exon, the 23rd exon and the 23rd exon; and finally, sequencing a second-round amplification product, and comparing a wild type sequence to determine an abnormal mode. The kit comprises the primer pair. The method is directly based on a blood sample, operation is easy and convenient, genome DNA pollution is avoided through the design of the cross-exon primer, and the influence of mutation on RNA splicing can be accurately and specifically revealed.

The invention belongs to the technical field of biology, and particularly relates to a culture medium capable of differentiating and inducing amniotic fluid cells into myoblasts, a method and application. The culture medium contains 5% v / v serum, 0.1 [mu] M of dexamethasone, 50 [mu] M of hydrocortisone, 1 [mu] M of MCHIR99021 and 5-10 ng / mL of IGF-1, and a solvent is a low-sugar DMEM (Dulbecco Modified Eagle Medium). According to the invention, amniotic fluid cells are separated from amniotic fluid, and myoblasts can be obtained by using the culture medium to culture, differentiate and induce. According to the invention, efficient muscle differentiation and RYR1 gene overexpression of amniotic fluid cells are realized for the first time, and the gene has high fidelity on splicing variation after induced differentiation, so that a safe, rapid and low-cost solution is provided for prenatal clear gene diagnosis.

The invention belongs to the technical field of artificial intelligence, and particularly relates to a genetic interpretation system device integrating multi-variation annotation and intelligent scoring, which comprises a variation information acquisition module used for collecting illness conditions of each member in a family to be analyzed and exon variation site information of each member, performing comparative analysis according to the collected information and data in a preset database to determine a variation type, and generating a genetic variation information data set; the annotation database construction module is used for constructing an annotation database and storing and managing a genetic variation information data set; the intelligent scoring module is used for calling the genetic variation information data set stored in the annotation database and generating an analysis result; and the report generation module is used for generating a report according to the analysis result. The system can assist doctors in genetic disease analysis, and a genetic diagnosis report is automatically generated through the report generation module, so that the credibility of the report is improved.

The present application relates to the technical field of gene diagnosis, in particular to the application of SFRP2 gene single specific site methylation detection, tumor diagnosis reagent and system. The present application firstly uses the methylation of SFRP2 gene single specific site chr4: 153781309 as a biomarker for detecting, predicting or monitoring the preparation of tumor development products, compared with other known methylation sites, which can effectively detect tumor patients. Further, on the basis of the methylation detection of the above site chr4: 153781309, the present application combines the methylation of the specific site and the methylation of other sites of SFRP2 gene, which can significantly improve the detection sensitivity and specificity.

This invention discloses a BTD gene knockdown hepatocyte injury model and its construction method, relating to the fields of molecular biology and cell biology. The model is used to knock down the expression of the BTD gene in human hepatocytes to construct a hepatocyte injury model. Its sense strand nucleotide sequence is 5'-GCGAUUGGUCUCAAGCUAA(dT)(dT)-3', and its antisense strand nucleotide sequence is 5'-UUAGCUUGAGACCAAUCGC(dT)(dT)-3'. This invention designs specific siRNA sequences to directionally knock out the BTD gene in human hepatocytes, thereby observing and verifying whether it leads to abnormalities in liver injury indicators. It clarifies the direct causal relationship between BTD gene functional defects and hepatocyte injury, providing powerful experimental tools and data support for the gene diagnosis of unexplained liver diseases, the pathogenicity assessment of new BTD gene mutation sites, and the development of related drugs.

This invention belongs to the field of biomedical technology and discloses a novel TNNT2 gene mutation c.311G>A associated with dilated cardiomyopathy. Through pedigree genetic analysis and in vitro functional validation, it was confirmed that this mutation leads to increased sensitivity of cardiomyocytes to doxorubicin and mitochondrial network fragmentation, thus exhibiting pathogenicity. Based on this, this invention provides specific detection primer pairs and kits for rapid genetic diagnosis and risk assessment of dilated cardiomyopathy.

The application discloses a reagent for detecting long fragment deletion mutation of an FHOD3 gene and application thereof, and belongs to the technical field of biological medicine. The reagent comprises nucleic acid molecules specifically recognizing long fragment deletion mutation of an intron starting region of the FHOD3 gene, in particular primers and probes for deletion mutation of the 12th-14th exon and / or deletion mutation of the 15th exon. The application first discovers and verifies the two pathogenic deletion mutations closely related to hypertrophic cardiomyopathy. In cooperation with a microdroplet digital PCR technology, the reagent has a sensitivity of 99%, a specificity of more than 95%, good repeatability, and an accuracy of 95%-99%. The new detection rate reaches 40% in a patient family with a negative result of previous whole-exome sequencing, effectively making up for the deficiency that the prior art cannot detect long fragment deletion in an intron starting region, and the reagent is suitable for gene diagnosis, family genetic screening and genetic consultation of hypertrophic cardiomyopathy.

The invention discloses an RNA splicing verification method for predictive guidance design and a kit, and belongs to the technical field of molecular biology and genetic diagnosis. The method comprises the following steps: firstly, predicting an abnormal splicing mode possibly caused by specific gene mutation through a bioinformatics tool; then, on the basis of a prediction result, PCR primers are specifically designed, so that abnormal splicing products and normal splicing products can be effectively distinguished; and finally, carrying out experimental verification through RT-PCR and product sequencing. According to the method, the blindness of primer design in traditional verification is overcome, and the detection efficiency and accuracy of complex and tiny splicing abnormity are remarkably improved. The invention also provides a method for verifying the OTOF gene c.3409-11Agt, and a kit for verifying the OTOF gene c.3409- The invention discloses a special primer kit for G mutation.