28 results about "Genetic counseling" patented technology

The invention relates to an intelligent inquiry and risk evaluation method for gynecological tumors. The method comprises the following steps: acquiring symptom information of a consultant and tumor medical history information of relatives in a plurality of generations of families of the consultant; constructing a tumor genetic family diagram by using the tumor medical history information, and then evaluating genetic risks of consultants to generate genetic consultation suggestions; constructing a symptom semantic network based on a medical ontology, and converting the symptom information into standard symptom data; calling a corresponding hierarchical inquiry protocol according to the standard symptom data to generate an intelligent diagnosis result; and integrating the genetic risk assessment result and the intelligent diagnosis result and outputting a diagnosis suggestion. Gynecological tumor inquiry consultation and risk evaluation can be automatically completed, and meanwhile a clinical research form is generated and inserted into a hospital electronic medical record system. The whole process does not need manual operation of doctors, the workload of information collection and input of the doctors is greatly reduced, and the doctors can concentrate on the core diagnosis and treatment process.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an oocyte occurrence and maturation disorder detection panel, a detection kit and application thereof, and the detection panel comprises mutation genes related to the oocyte occurrence and maturation disorder for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, by detecting high-risk genes and mutation sites, the risk of occurrence and maturation disorder of the oocytes is predicted in combination with clinic, the development potential of the oocytes is evaluated, the in-vitro maturation strategy is optimized, and the clinical outcome of assisted reproduction is improved. The detection panel can be used for efficiently detecting gene mutation which has clinical diagnosis and treatment significance on oocyte occurrence and maturation disorders; the method has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention measures of patients suffering from recurrent oocyte occurrence disorder, oocyte maturation disorder and low oocyte maturation rate and patients to be subjected to assisted reproduction technology treatment.

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 invention particularly relates to a primer probe and a kit for detecting the copy number of a GJB2 gene of a non-syndromic deafness patient by using microdroplet digital PCR (Polymerase Chain Reaction), and application of the primer probe and the kit. The primer probe combination provided by the invention comprises a target gene detection primer pair, a target gene detection probe, an upstream primer of a reference gene, a downstream primer of the reference gene and a probe of the reference gene, and the sequence information of the primer probe combination is shown as SEQ ID NO.6-11; the invention also provides a kit for detecting the copy number of the GJB2 gene of a non-syndromic deafness patient. When the primer probe combination and the kit provided by the invention are applied to detection of copy number variation of the GJB2 gene of a patient with non-syndromic deafness, the accuracy of hereditary deafness detection is remarkably improved; whether GJB2 gene expression is abnormal or not is judged in an auxiliary mode according to the judgment result, disease prognosis is evaluated, potential treatment drugs are screened, genetic counseling services are provided or personalized medical schemes are formulated, and the method has wide application prospects.

The invention relates to a multiplex fluorescent quantitative PCR (polymerase chain reaction) primer, a probe and a kit for detecting neurofibroma I type NF1 gene variation sites, and provides four NF1 gene mutation sites found for the first time, the four variation sites are NF1 gene c.21002105delinsAG, c.4561dup, c.6421del and c.6797dup variation sites respectively, and the mutation sites of the NF1 gene c.21002105delinsAG, the c.4561dup, the c.6421del and the c.6797dup can be used for detecting neurofibroma I type NF1 gene mutation sites. Meanwhile, the invention also provides a specific primer, a probe composition and a kit for detecting the NF1 gene variation site of the neurofibromatosis I type for screening or diagnosing the neurofibromatosis I type. The NF1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of the neurofibroma type I. The kit disclosed by the invention can comprehensively cover four new pathogenic variation sites of the NF1 gene related to the neurofibroma type I, is high in accuracy, and can specifically detect the pathogenic variation sites.

The invention provides a marker, a probe group, a kit and a detection method for thyroid cancer related gene detection. The marker comprises 37 gene exons and hotspot introns. The invention provides a detection probe group of the 37 gene related to the thyroid cancer, a detection kit of the 37 gene related to the thyroid cancer, a detection method of the 37 gene related to the thyroid cancer and some novel markers related to the thyroid cancer, and can detect somatic cell gene SNVs / Indels variation, embryonic system SNPs / Indels variation, SV variation and CNV variation at the same time. The detection accuracy can be improved, the detection decision can be guided, genetic counseling can be carried out, and powerful support is provided for individualized detection and management of thyroid cancer patients.

The invention provides a PMFBP1 mutant gene related to azoospermia syndrome and an application of the PMFBP1 mutant gene. The mutant gene is a PMFBP1 gene c.2641Cgt; the protein p.Arg881Ter is subjected to non-sense mutation, so that the encoded protein p.Arg881Ter is truncated, and the function of a sperm head-tail connection device is damaged. The invention also provides a specific Sanger sequencing detection method and a kit of the mutation, which can be used for rapid molecular diagnosis, genetic counseling and assisted reproduction guidance of the disease, and provides a basis for precise medical treatment.

The invention provides a pre-pregnancy carrier screening genetic counseling system based on a large language model, which is applied to the technical field of gene sequencing analysis, and comprises a variation acquisition module used for screening to-be-sequenced gene data of a user to obtain pathogenic abnormality site information, converting pathogenic abnormality site information, disease clinical phenotypes, family history and individual past history into high-dimensional vectors; the variation retrieval module is used for dynamically retrieving the high-dimensional vector and recalling Top-K medical data in the semantic vector index database based on the semantic vector index database; the inference analysis module is used for evaluating the fertility genetic variation risk according to the Top-K related medical data and the high-dimensional vector to obtain an evaluation result; and the multi-round dialogue module enables the user to obtain an evaluation result through multi-round dialogues. The method has the advantages that the content such as fertility risks and intervention suggestions can be automatically generated, dialogue interaction with the patient can be carried out, and therefore the clinical genetic consultation burden is relieved.

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 belongs to the technical field of prenatal detection, and discloses application of a fetal side ventricle broadening karyotype-CNV-seq-WES stepped detection strategy in prenatal genetic counseling and clinical prognosis analysis, retrospective queue research design is adopted, 166 cases of FVM diagnosed by prenatal ultrasound are incorporated, and the detection strategy is applied to prenatal genetic counseling and clinical prognosis analysis. The system analyzes the relevance of FVM severity, anatomy types and chromosome abnormalities. The clinical application value of the genetic detection technology is evaluated by comparing genetic detection results and pregnancy outcomes of different subgroups. Through the analysis, more information is provided for the fetal medicine multidisciplinary team, so that the quasi parents are helped to obtain more comprehensive prenatal consultation and decision support.

The invention relates to a primer probe group, a kit and a detection method for high homocysteine urine disease susceptibility gene detection, and belongs to the technical field of gene polymorphism detection. In order to solve the problems of narrow detection range, insufficient genetic interpretation ability, deficiency of individualized screening strategy and the like in the existing HCU screening technology, the invention provides a primer probe group for high homocysteine urine disease susceptibility gene detection, which comprises a primer probe group for detecting Tgt of CBS gene c.154 site in a detected sample, a primer probe group for detecting CBS gene c.154 site, a primer probe group for detecting CBS gene c.154 site, a primer probe group for detecting CBS gene c.154 site, and a primer probe group for detecting CBS gene c.154 site, c mutation: Ggt at c.457 site; a mutation and Ggt at IVS 13-111 sites; the primer probe group is used for detecting C mutation. Comprehensive and accurate detection of the high homocysteine urinary disease susceptibility gene is realized, a reliable molecular marker is provided for genetic counseling and family management through early risk prediction, accurate diagnosis and individualized intervention, and the molecular marker has important clinical application value in the aspects of improving diagnosis efficiency and sensitivity and improving patient prognosis.

The present invention discloses a multiplex PCR primer and probe combination and a kit. anti3.7 and ααα anti4.2 A multiplex PCR primer and probe combination was constructed that can simultaneously detect the 19 α gene variations, including α-thalassemia, using a two-tube reaction system and the same reaction conditions. Based on the composition, the present invention immobilizes the probe sequences in the composition on a solid phase carrier to form a gene chip. Combined with multiplex PCR and flow-through hybridization, it achieves visual detection of the 19 α gene variations and the genotypes of the tested samples. The detection has good specificity, high accuracy and sensitivity, and is simple to operate, time-saving, and easy to read results. It is conducive to the carrier screening of α gene variations and can provide an accurate reference for clinical diagnosis or genetic counseling of α-thalassemia.

The disclosure provides a pre-pregnancy carrier screening genetic counseling system based on a large language model, applied to the technical field of gene sequencing analysis, comprising a variation acquisition module for screening the user's to-be-sequenced gene data to obtain pathogenic abnormal site information, and converting the pathogenic abnormal site information, disease clinical phenotype, family history and personal past history into a high-dimensional vector; a variation retrieval module for dynamically retrieving the high-dimensional vector based on a semantic vector index database and recalling Top-K medical data in the semantic vector index database; an inference analysis module for evaluating the reproductive genetic variation risk according to the Top-K related medical data and the high-dimensional vector to obtain an evaluation result; and a multi-round dialogue module, through which the user can obtain the evaluation result through multi-round dialogue. The advantage of the disclosure is that the reproductive risk, intervention suggestions and other contents can be automatically generated, and the disclosure can also interact with the patient through dialogue, thereby reducing the clinical genetic counseling burden.

The invention provides a genetic relationship identification method and system based on SNP (Single Nucleotide Polymorphism) mismatch rate and homozygous site conjoint analysis and application, and belongs to the technical field of genetic relationship identification. According to the method, through a comprehensive analysis strategy, the accuracy and reliability of genetic relationship judgment are remarkably improved, and particularly, the distinguishing capacity of complex genetic relationships such as full sibs, half sibs, undules and news, grandgrants and grandgrandgrandgrants is substantially enhanced. According to the method, the misjudgment risk caused by sample degradation, DNA trace or crowd background difference is effectively reduced, so that a higher practical value and a wider application range are shown in practical applications such as forensic medicine identity confirmation, missing person checking and genetics pedigree reconstruction; and a firmer technical support is provided for judicial expertise and genetic counseling services.

The application particularly relates to a primer probe, a kit and application for detecting the GJB2 gene copy number of a non-syndromic hearing loss patient by using microdroplet digital PCR. The primer probe combination provided by the application comprises a target gene detection primer pair, a target gene detection probe, an upstream primer of a reference gene, a downstream primer of the reference gene and a reference gene probe, and the sequence information is shown as SEQ ID NO. 6-11; and the application further provides a kit for detecting the GJB2 gene copy number of a non-syndromic hearing loss patient. The primer probe combination and the kit provided by the application are applied to the detection of the GJB2 gene copy number variation of a non-syndromic hearing loss patient, and the accuracy of the detection of genetic hearing loss is significantly improved; according to the determination result, it is determined whether the GJB2 gene expression is abnormal or not, the disease prognosis is evaluated, potential therapeutic drugs are screened, genetic counseling services are provided or individualized medical schemes are formulated, and the application has a wide application prospect.

The invention discloses a DNA methylation prediction method and related equipment, and the method comprises the steps: obtaining DNA methylation data of a plurality of species, and carrying out the preprocessing to obtain a data sample set; performing iterative optimization on a preset deep learning model by using the data sample set to obtain an initial prediction model; performing parameter fine tuning on the initial prediction model by using the data sample set of the target species to obtain a target prediction model; and performing DNA methylation prediction on the target species by using the target prediction model. According to the method, the multi-species public methylation data is integrated through a multi-species pre-training mechanism, and the initial model with generalization ability is constructed, so that the high-precision model can be finely adjusted by the target species only through a small number of samples, and the dependence on large-scale entity tissue data is remarkably reduced. The method can be widely applied to the fields of DNA methylation scientific research, disease risk genetic variation recognition, genetic counseling and the like; the related prediction model technology can be widely applied to the technical field of deep learning.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses an ovarian dysfunction detection panel, a detection kit and application of the ovarian dysfunction detection panel. The detection panel includes mutation genes, copy number variation genes, and rearrangement event and deletion genes associated with ovarian dysfunction (including one or more of hypoovarian reserve function (DOR), premature ovarian insufficiency (POI), polycystic ovarian syndrome (PCOS), and hypogonadotrophy gonadotrophy hypofunction (HH)) for detection. According to the application, the risk of patients suffering from DOR, POI, PCOS and HH and the risk of ovarian dysfunction can be accurately evaluated by detecting the high-risk genes. The method has important guiding significance on clinical diagnosis, risk prediction, genetic counseling and precise treatment of ovarian dysfunction, DOR, POI, PCOS, HH and patients to be treated by an assisted reproduction technology, and improvement of clinical outcome of assisted reproduction.

The invention provides a nevus basal cell carcinoma syndrome gene mutation site and application thereof, the gene mutation site is a frame-shift mutation c.724725delCA of a No. 5 exon of a PTCH1 gene, and the mutation causes the change of a subsequent codon reading frame and causes the frame-shift mutation p.Q242Vfs * 9 of PTCH1 protein. According to the c.724725delCA mutation site disclosed by the invention, the pathogenic gene spectrum of the NBCCS is expanded. The PTCH1 gene c.724725delCA mutation provided by the invention can be applied to NBCCS diagnosis, and can also be used for preparing a kit containing a mutation detection primer or probe, and a genetic counseling and prenatal diagnosis method based on the mutation.

The invention provides a genetic counseling method and system based on generative artificial intelligence, and the method comprises the steps: receiving multi-mode input data of a user, and carrying out the structural conversion of voice and image input; understanding and analyzing user intentions through natural languages, extracting key entities and tracking dialogue contexts; the key entities comprise gene names, disease terms, phenotype description and detection item names; querying a dynamic knowledge base based on the intention and the key entity to obtain gene-disease associated standardized knowledge; generating detection scheme recommendation and genetic risk hierarchical assessment according to the family history and phenotype data; scheduling a consultation task based on the BPMN process model, and processing a long task through an asynchronous message queue; converting a risk assessment result into a visual chart and a natural language interpretation report, and outputting the visual chart and the natural language interpretation report to a user side; manual work is effectively replaced to complete the whole process service, and an end-to-end genetic counseling solution without manual intervention is realized.

The invention discloses a mutant gene biomarker for early detection of testis torsion and an application thereof, for the first time, genes related to occurrence of testis torsion in Chinese population and mutation sites thereof are found, and two gene mutation sites specifically occurring in testis torsion patients are identified. The variation on the TAAR8 and ZNF254 genes can be used as a biomarker for early detection of testis torsion. The invention also relates to application of the gene variation in preparation of a testis torsion detection kit. The mutant gene provided by the invention can be used as a biomarker for early screening and diagnosis of testicular torsion; when a carrier of the gene variation is detected, effective guidance can be provided for early diagnosis, prevention and individualized intervention treatment of testis torsion, genetic counseling and prenatal and postnatal rearing guidance can be provided for a subject, the birth rate of child patients with the risk of testis torsion occurrence is reduced, and the testis torsion detection method is suitable for testis torsion detection. The traditional Chinese medicine composition has important clinical value and social significance for preventing and treating birth defects.

The invention relates to the technical field of assisted reproduction polygene detection, and discloses a fertilization failure detection panel, a detection kit and application thereof, and the detection panel comprises fertilization failure related mutant genes for detection, copy number variation genes and rearrangement event and deletion genes. According to the application, 41 genes having clear clinical correlation with fertilization failure and pathogenic mutation sites thereof, including mutation sites of important exon regions and partial intron regions of mutant genes, are utilized, and high-risk genes and mutation sites are specifically detected by a high-throughput sequencing technology or by adopting a probe; the risk of abnormal sperm-egg combination and fertilization failure is predicted and avoided in combination with clinic. The detection panel can efficiently detect gene mutation with clinical diagnosis and treatment significance on fertilization failure, and has important guiding significance on genetic counseling, risk prediction, clinical diagnosis, precise treatment and potential personalized intervention strategies of patients to be subjected to assisted reproduction technology treatment and patients with fertilization failure history.

The application provides a nevus basal cell carcinoma syndrome gene mutation site and application thereof, the gene mutation site is a frame shift mutation c.724_725delCA of a 5th exon of a PTCH1 gene, the mutation causes a subsequent codon reading frame change, and causes a PTCH1 protein frame shift mutation p.Q242Vfs*9.The c.724_725delCA mutation site of the application expands the pathogenic gene spectrum of NBCCS.The PTCH1 gene c.724_725delCA mutation in the application can be applied in NBCCS diagnosis, and a kit containing a mutation detection primer or probe and a genetic counseling and prenatal diagnosis method based on the mutation can be prepared.

The invention relates to multiple fluorescent quantitative PCR (Polymerase Chain Reaction) primers, a probe and a kit for detecting FBN1 gene variation sites of Marfan syndrome. According to the invention, three kinds of FBN1 gene variation sites, namely an FBN1 gene c.4120del site, an FBN1 gene c.6820Tgt, an FBN1 gene c.4120del site and an FBN1 gene c.6820Tgt, are found for the first time; according to the FBN1 gene, the FBN1 gene c.70387039del site is introduced, the FBN1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of Marfan syndromes. The invention also provides a primer, a probe composition and a kit for detecting the Marfan syndrome FBN1 gene variation sites, and the primer, the probe composition and the kit are used for screening or diagnosing the Marfan syndrome, and the sequences of the primer and the probe are as shown in SEQ ID NO.1-12. The primer and the probe designed by the invention are high in specificity, can specifically detect the three pathogenic variation sites found for the first time, and can be used for screening or diagnosing the Marfan syndrome. The diagnosis of the Marfan syndrome is realized.

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 aims to provide an SNP (Single Nucleotide Polymorphism) site for detecting blood group misidentification caused by A-type variation of an ABO blood group system. The SNP site is a 119th basic group (ABO * A1.02 is used as a reference sequence) of Exon3 from an initiation codon in a new A-type variation gene coding region. The invention provides a new application of the A-type variant gene, so that an effective way for rapid gene diagnosis, gene screening and genetic counseling of an acute intravascular hemolytic transfusion reaction which can be triggered is provided; 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 new A-type variant gene mutation sites in peripheral blood of clinical patients.