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Application of CRYBB2 gene in preparation of product for detecting congenital cataract

A technology for CRYBB2, congenital cataract, which is applied in the application field of crystal protein βB2 in the preparation and detection of genetic diagnosis products for congenital cataract, can solve the problems of visual impact, high operation cost, many complications, etc., and achieves the effect of rapid detection

Inactive Publication Date: 2017-02-22
QINGDAO UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The onset of congenital cataract is early, the disease gradually progresses, often occurs in both eyes, and has a serious impact on vision. Early treatment is very important. However, the delayed detection and treatment of infant congenital cataract is very serious in my country, and postoperative complications are many and easy. Recurrence, coupled with the high cost of surgery, brings a heavy economic and mental burden to the patient's family and society

Method used

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  • Application of CRYBB2 gene in preparation of product for detecting congenital cataract
  • Application of CRYBB2 gene in preparation of product for detecting congenital cataract
  • Application of CRYBB2 gene in preparation of product for detecting congenital cataract

Examples

Experimental program
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Effect test

Embodiment 1

[0031] Example 1: Screening the mutation site of CRYBB2 gene from a family with congenital cataract

[0032] 1. Extraction of peripheral blood genomic DNA:

[0033] In compliance with the relevant national policies and regulations, and on the basis of the consent of the sampling subjects, draw 2-5ml of peripheral venous blood from family members, put it into an EDTA anticoagulant tube, and store it at -80°C for later use; the frozen EDTA anticoagulated blood is thawed at room temperature Finally, take 500 μL and put it in a centrifuge tube, add an equal volume of TE (pH 8.0), mix well, centrifuge at 10000 rpm for 10 minutes at 4°C, and discard the supernatant.

[0034] Add 180 μL TE, 20 μL SDS (10%), and 8 μL proteinase K (10 mg / ml) to mix well, and place in a 37° C. water bath overnight. Remove the sample from the water bath and briefly centrifuge to pellet the sample. Add an equal volume of Tris-saturated phenol (about 300 μL) to the reaction tube, mix thoroughly, centrifu...

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Abstract

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.

Description

technical field [0001] The invention belongs to the technical field of genetic diagnosis products, and in particular relates to the application of crystal protein βB2 (CRYBB2) in the preparation and detection of genetic diagnosis products for congenital cataract. [0002] Background of the invention [0003] Congenital cataract is a common eye disease that causes low vision and blindness in children. The incidence rate is about 0.01%-0.06%. Cataract can cause blindness or amblyopia in infants. 22%-30% of blind children are caused by cataracts , is a group of serious blinding diseases that seriously affect children's vision development and has become the second cause of blindness in children. Congenital cataract can occur independently, or as a concomitant symptom of ocular or systemic syndrome, often involving both eyes, often accompanied by anterior segment dysplasia, such as iris defect, Peters anomaly, ectopic pupil and nystagmus, etc. Deformity often causes most patients...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 陈鹏陈豪夏玉军单涛
Owner QINGDAO UNIV
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