35 results about "Congenital cataracts" patented technology

The invention relates to the field of disease related mutant genes, in particular to gene mutation of hereditary diseases, provides CC (congenital cataract) related gene mutation, and particularly provides a CC related PITX3 gene mutation as well as a detection method and an application thereof. Specifically, the invention discloses the PiTX3 gene or protein comprising the following mutant: c.608delC / p.A203fs.

The invention belongs to the fields of biotechnologies and medicine, and in particular relates to construction and application of a mouse cataract spontaneous mutant gene pure line BALB / cAnSlac-Crygc-del. By the method, various mutant mice can be screened, and a solid foundation is laid for studying the pathogenesis and treatment method of cataract. The cataract symptom pure line mouse BALB / cAnSlac-Crygc-del obtained by the method can be used for treating and studying congenital cataract and can make prominent contribution to preventing and treating cataract.

The invention discloses a probe set and a kit used for detecting the related genes of a congenital cataract. The probe set comprises a plurality of probe sequences which respectively aim at the exon non-repeated areas of 225 related genes of the congenital cataract. The invention also provides the kit which contains the probe set and is used for regional capture and next generation sequencing. According to the probe set and the kit, the found 225 related genes of the congenital cataract can be comprehensively detected in one time, the coverage rate and the efficiency of molecular diagnosis can be improved, specificity is good, and sensitivity is high, and the probe set and the kit have an important meaning for the prenatal screening, the early diagnosis and the accurate prevention and control of the congenital cataract.

The invention provides a congenital cataract postoperative complication predicting method and system. The method includes: acquiring a predicting factor through clinical information; subjecting the predicting factor to acquire a predicting result through a naive Bayesian algorithm; presenting the predicting result; acquiring corresponding follow-up information according to the predicting result. By the method and system, complications can be accurately predicted.

The invention relates to the field of disease-related mutant genes and discloses a novel gene mutation site causing congenital membranous cataract, a detection method and application. The invention specifically relates to gene mutation c.388C > T (p.R130C) of LIM2 and a genetic mode of dominant inheritance of autosomes of the gene discovered for the first time, and discloses a congenital membranous cataract virulence gene LIM2 mutation detection kit at the same time. The kit disclosed by the invention is used for detecting whether a patient has LIM2 gene c.388C > T mutation or not; therefore,an effective way for congenital cataract gene diagnosis, prenatal gene screening and genetic counseling is provided. The kit is beneficial to clinical prenatal diagnosis screening and common screeningof newborn LIM2 gene mutation, early surgery and training rehabilitation intervention are carried out on diagnosis congenital membranous cataract children, and irreversible lifelong hypopsia is reduced; and a basis is provided for screening after preventive fertility.

The invention discloses a detection kit of a disease-causing gene CRYGD of a crystalline congenital cataract, and relates to a gene detection case. The detection kit of the disease-causing gene CRYGD of crystalline congenital cataract comprises an AS-PCR amplification detection reagent. The AS-PCR amplification detection reagent comprises 2 microlitre of 10*PCR buffer, 0.5 microlitre of dNTP mixture, 0.5 microlitre of 10 micromol / L AS-PCR special upstream primer and downstream primer and inner reference upstream primer and downstream primer respectively, 0.5 microlitre of 2U / microlitre TaqDNA polymerase and 13 microlitre of deionized water. CRYGD gene P23T point mutation is directly detected by DNA group extracted in patient blood, so that crystalline congenital cataract can be accurately diagnosed, so that the omission ratio is reduced, and the crystalline congenital cataract can be identified with other congenital cataracts.

The invention aims at providing application of an AQP5 gene in preparation and detection of a congenital cataract diagnosis product. The invention provides new uses of the AQP5 gene, and thereby provides an approach for effectively carrying out congenital cataract disease gene diagnosis, prenatal gene screening and genetic counseling, and the application effect shows that the SNP (single nucleotide polymorphism) locus and detection primers of the gene provided by the invention can be effectively used for patients in clinic and fetus villus or amniotic fluid so as to carry out rapid detection of an AQP5 gene mutation locus.

The invention aims to provide application of ABCA3 genes to preparing diagnosis products for detecting congenital cataract-microcornea syndrome (CCMC). The application has the advantages that novel application of the ABCA3 genes is provided, and accordingly an effective way is provided for genetic diagnosis of congenital CCMC diseases, prenatal gene screening and genetic counseling; as shown by application effects, SNP (single nucleotide polymorphism) sites and detection primers of the genes can be effectively used for quickly detecting ABCA3 gene mutation sites for clinical patients and villus or amniotic fluid of fetuses.

The invention relates to a construction method of a congenital cataract disease animal model, which comprises the steps of firstly, designing a gRNA target site sequence for a second exon region of a mouse GJA8 gene, amplifying a homologous arm and a cKO region, and respectively connecting the homologous arm and the cKO region to a vector; injecting positive clones into blastula by electroporation ES cells of the constructed plasmids, transferring the blastula into a mouse body, and obtaining a first builder mouse after a birth mouse is mature; mating with a wild type mouse to obtain a heterozygote mouse F1 generation with gene mutation; finally, mating the F1 generation of heterozygote mice with the same genotype to obtain F2 generation of gene mutation homozygote mice. According to the construction method of the congenital cataract disease animal model provided by the invention, typical characteristics of congenital cataract, such as crystalline lens degeneration opacity and crystalline lens epithelial apoptosis, can be obtained, the animal model can be used for researching congenital cataract diseases and screening medicines for treating the congenital cataract diseases, and application prospect is promising.

The invention relates to an MAF gene mutant causing congenital cataract disease phenotype, a polypeptide, a kit, a construct, a recombinant cell and application, belonging to to the technical field of biological gene engineering. The MAF gene mutant disclosed by the invention is characterized in that nucleotide at the 788 site of a No. 1 exon of an MAF gene is subjected to A-G mutation. The polypeptide has p.D263G mutation. The kit can be used for screening biological samples susceptible to congenital cataract and contains a reagent for detecting the MAF gene mutant. The nucleic acid construct contains the MAF gene mutant. The recombinant cell is obtained by transfecting recipient cells with the nucleic acid construct containing the MAF gene mutant, and can express the MAF polypeptide with the p.D263G mutation. The method can be used for molecular genetic diagnosis of congenital cataract, and provides a basis for prenatal gene diagnosis of patients with cataract caused by MAF gene mutation.

The invention aims to provide application of ABCA3 genes to preparing diagnosis products for detecting congenital cataract-microcornea syndrome (CCMC). The application has the advantages that novel application of the ABCA3 genes is provided, and accordingly an effective way is provided for genetic diagnosis of congenital CCMC diseases, prenatal gene screening and genetic counseling; as shown by application effects, SNP (single nucleotide polymorphism) sites and detection primers of the genes can be effectively used for quickly detecting ABCA3 gene mutation sites for clinical patients and villus or amniotic fluid of fetuses.

The invention aims to provide application of an ERCC8 (excision repair cross complementary group 8) gene to congenital cataract combined keratoconus detection. The invention provides novel application of the ERCC8 gene so as to provide an effective approach for performing congenital cataract combined keratoconus disease gene diagnosis, prenatal gene screening and genetic counseling, and the application effect indicates that an SNP site of the gene provided by the invention and a detection primer can be effectively used for performing rapid congenital cataract combined keratoconus gene mutation site detection on clinical patients and fetal villus or amniotic fluid.

The invention mainly relates to the technical field of ophthalmic intraocular lenses, in particular to a comprehensive intraocular lens implant for congenital cataract. The comprehensive intraocular lens implant comprises an adjustable intracapsular ring and a common intraocular lens assembled on the adjustable intracapsular ring, the adjustable intracapsular ring comprises an annular body and a boss used for assembling an intraocular lens, the boss is arranged on the inner side face of the annular body, and the annular body is of a closed-loop structure or a C-shaped open-loop structure. Theadjustable intracapsular ring is specially designed and has certain thickness, shape and elasticity, the outline and elasticity of the infant capsular bag after the natural crystalline lens is removedcan be kept, and capsular bag contraction caused by no natural crystalline lens is prevented. The intracapsular ring not only can generate corresponding size change along with the growth of the infant capsular bag to prevent migration of epithelial cells, but also can be used for fixing an intraocular lens implanted in the later period, and convenience is provided for secondary implantation of the intraocular lens in the capsular bag.

The invention provides a drug benzophenoxazines compound for treating cataract and a preparation method thereof. The chemical structural formula of the drug benzophenoxazines compound for treating thecataract is shown in the description. The provided drug benzophenoxazines compound is a mydriasis drug, is similar to a xanthommatin compound, can have stronger affinity with a crystalline lens soluble protein, can competitively inhibit the oxidation, degeneration and turbidity functions of quinoid substances on the crystalline lens soluble protein, prevent the development of the cataract, have good therapeutic effects on senile cataract, cataract caused by diabetes, traumatic and congenital cataract and retinitis pigmentosa, and can be used for further study and development of cataract diseases.

The invention discloses an application of imatinib mesylate in preparing drugs used for building congenital cataract animal model. Applying the imatinib mesylate to build the congenital cataract animal model has the advantages of simple method, short period, low cost, high film forming rate, good reproduction quality and the like. The obtained animal model can better simulate the congenital cataract of baby lens caused by receptor signal access barrier of platelet-derived growth factors due to various reasons during the growing process before or after birth, and is applicable to studies on various aspects of the nosogenesis of the congenital cataract, therapeutic drug screening, mechanism of action, and the like.

The invention relates to a novel method for inducing pluripotent stem cells to directionally differentiate into in-vitro crystalline lenses and aims to form the in-vitro crystalline lenses which are good in form and have an optical function. According to the technical scheme, the method includes the steps of firstly, directionally inducing the pluripotent stem cells to differentiate into primary neuroderm cell clusters; secondly, separating and selecting the primary neuroderm cell clusters; thirdly, inducing the neuroderm cells to differentiate into primary in-vitro crystalline lenses; fourthly, inducing the primary in-vitro crystalline lenses to differentiate into mature in-vitro crystalline lenses. The in-vitro crystalline lenses obtained by the method are applicable to researches of crystalline lens embryo development mechanisms, researches of congenital cataract pathogenesis and screening of cataract-related medicine.

The invention aims to provide an application of a CRYBB2 gene in preparation of a diagnosis product for detecting congenital cataract. According to the invention, a new application of the CRYBB2 gene is provided, so that one way for effectively performing genetic diagnosis, prenatal gene screening and genetic counseling of congenital cataract disease is provided, and an application effect indicates that an SNP (single nucleotide polymorphism) sites and detection primers of the gene can be effectively applied to rapid detection for CRYBB2 gene mutation sites of clinical patients and fetal villi or amniotic fluid.

The invention belongs to the technical field of biological gene engineering, and discloses a CRYBB2 gene mutant, a polypeptide, a kit, a construct and a recombinant cell. The nucleic acid of the CRYBB2 gene mutant is 223-site nucleotide of a fourth exon, and G-A mutation exists; the polypeptide has p.E75K mutation and is obtained by encoding the nucleic acid for encoding the CRYBB2 mutant; the kit for screening the biological sample susceptible to the congenital cataract contains a reagent for specifically detecting a CRYBB2 gene mutant p.E75K; the nucleic acid construct contains the CRYBB2 gene p.E75K mutant; and the recombinant cell is obtained by transfecting a recipient cell with the nucleic acid construct containing the CRYBB2 gene p.E75K mutant. The kit can be used for auxiliary diagnosis of congenital cataract, is used for discovering potential carriers of hereditary cataract, and provides a basis for prenatal gene diagnosis of the disease.

The invention provides a screening method for a congenital cataract risk degree and a device thereof. The method includes the following steps: obtaining a sample to-be-classified; classifying the sample to-be-classified by a machine learning method to obtain a classification prediction result; and determining a screening result according to the classification prediction result; wherein the screening result include normal and congenital cataracts. The non-invasive performance and low cost can be realized, and the detection accuracy is high.

The invention discloses a mutant EPHA2 gene, which has a sequence shown as SEQ ID NO:1. The invention also discloses a polypeptide coded by mutant EPHA2 gene, use of the mutant EPHA2 gene and / or its coded protein in early screening, diagnosis of congenital cataract and / or preparation of drugs for treatment of congenital cataract, a method for screening of congenital cataract biological samples, a system for screening of congenital cataract biological samples and a kit for screening of congenital cataract biological samples.

The invention provides an SNP locus for detecting infantile epilepsy type 42 with congenital cataract, belonging to the technical field of gene detection. The SNP locus is located at the 6747th position of a CACNA1A gene coding region from a start codon. A G / C mutation occurs in the SNP locus; when the genotype of the SNP locus is GC or CC, it is manifested as a latent epilepsy type 42 with congenital cataract; when the genotype of the SNP locus is GG, the performance is normal. A primer pair and a kit provided can quickly and accurately detect whether the above SNP locus mutation exists in aCACNA1A gene, and a basis is provided for detecting whether a subject has the risk of epilepsy encephalopathy in the early onset infant.

The invention aims at providing application of an AQP5 gene in preparation and detection of a congenital cataract diagnosis product. The invention provides new uses of the AQP5 gene, and thereby provides an approach for effectively carrying out congenital cataract disease gene diagnosis, prenatal gene screening and genetic counseling, and the application effect shows that the SNP (single nucleotide polymorphism) locus and detection primers of the gene provided by the invention can be effectively used for patients in clinic and fetus villus or amniotic fluid so as to carry out rapid detection of an AQP5 gene mutation locus.

The invention discloses a detection kit of a disease-causing gene CRYGD of a crystalline congenital cataract, and relates to a gene detection case. The detection kit of the disease-causing gene CRYGD of crystalline congenital cataract comprises an AS-PCR amplification detection reagent. The AS-PCR amplification detection reagent comprises 2 microlitre of 10*PCR buffer, 0.5 microlitre of dNTP mixture, 0.5 microlitre of 10 micromol / L AS-PCR special upstream primer and downstream primer and inner reference upstream primer and downstream primer respectively, 0.5 microlitre of 2U / microlitre TaqDNA polymerase and 13 microlitre of deionized water. CRYGD gene P23T point mutation is directly detected by DNA group extracted in patient blood, so that crystalline congenital cataract can be accurately diagnosed, so that the omission ratio is reduced, and the crystalline congenital cataract can be identified with other congenital cataracts.

The invention aims at providing an application of an ABCA3 gene in preparation of a diagnostic product for detecting CCMC (congenital cataract microcornea complex syndrome). A new application of the ABCA3 gene is provided, and sequentially, an effective way for performing CCMC disease genetic diagnosis, prenatal gene screening and genetic counseling is provided; and the application effect shows that SNP (Single Nucleotide Polymorphism) locus and detection primer of the gene provided by the invention can be effectively used for ABCA3 gene mutation locus rapid detection on clinic patients and chorionic villus or amniotic fluid.

The present invention mainly relates to the technical field of ophthalmic intraocular lens, and more specifically relates to a comprehensive intraocular lens implant for congenital cataract, including an adjustable intracapsular ring and an ordinary intraocular lens assembled on the adjustable intracapsular ring, The adjustable intracapsular ring includes a ring body and a boss for assembling an intraocular lens, the boss is arranged on the inner surface of the ring body, and the ring body is a closed-loop structure or a C-shaped open-loop structure. The adjustable intracapsular ring of the present invention is a specially designed intracapsular ring. The ring has a certain thickness, shape and elasticity, which can maintain the contour and elasticity of the capsular bag in children after removing the natural lens, and prevent the child from losing the natural lens due to the absence of the natural lens. resulting in shrinkage of the capsular bag. The intracapsular ring can not only produce corresponding size changes with the growth of the capsular bag in children, prevent the migration of epithelial cells, but also can be used to fix the intraocular lens implanted in the later stage, providing a good foundation for the second implantation of the intraocular lens in the capsular bag. convenient.

The invention relates to a MAF gene mutant, a polypeptide, a kit, a construct, a recombinant cell and an application that cause a congenital cataract disease phenotype, and belongs to the technical field of biogenetic engineering. The MAF gene mutant of the present invention is an A→G mutation at the 788th nucleotide of exon 1 of the MAF gene; the polypeptide has a p.D263G mutation; the kit can be used to screen susceptibility to congenital cataract A biological sample containing a reagent for detecting a MAF gene mutant; the nucleic acid construct contains a MAF gene mutant; the recombinant cell is obtained by transfecting a recipient cell with the nucleic acid construct containing a MAF gene mutant, and can express a MAF polypeptide with p.D263G mutation. The invention can be used for molecular genetic diagnosis of congenital cataract, and provides basis for prenatal gene diagnosis of cataract patients caused by MAF gene mutation.

The invention discloses a mutant EPHA2 gene, which has a sequence shown as SEQ ID NO:1. The invention also discloses a polypeptide coded by mutant EPHA2 gene, use of the mutant EPHA2 gene and / or its coded protein in early screening, diagnosis of congenital cataract and / or preparation of drugs for treatment of congenital cataract, a method for screening of congenital cataract biological samples, a system for screening of congenital cataract biological samples and a kit for screening of congenital cataract biological samples.