35 results about "Congenital cataracts" patented technology

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 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 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 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 present invention provides a screening method and device for the risk of congenital cataract, comprising: obtaining samples to be classified; classifying the samples to be classified by machine learning methods to obtain classification prediction results; determining the screening results according to the classification prediction results; wherein, The screening results include normal and congenital cataracts, which is non-invasive, low-cost, and has high detection accuracy.

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 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 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 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 application of a CRYBA4 gene in preparing and detecting a congenital cataract-microcornea syndrome diagnosing product. The invention provides a novel purpose of the CRYBA4 gene and further provides an effective way of carrying out congenital CCMC disease gene diagnosis, antenatal gene screening and genetic counseling. An application effect shows that a gene SNP locus and a detecting primer provided by the invention can be effectively applied to quick detection of a CRYBA4 gene mutation site on a clinic patient and fetus 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.