13 results about "Genetic counseling" patented technology

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 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 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 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 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 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 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.