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Application of AQP5 gene in preparation and detection of congenital cataract product

A congenital cataract and gene technology, which is applied to the application field of aquaporin 5 in the preparation and detection of genetic diagnosis products for congenital cataract, can solve the problems of visual impact, high operation cost, easy recurrence, etc., and achieve the effect of rapid detection

Active Publication Date: 2017-11-03
QINGDAO UNIV
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  • Abstract
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AI Technical Summary

Problems solved by technology

[0004] 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 AQP5 gene in preparation and detection of congenital cataract product
  • Application of AQP5 gene in preparation and detection of congenital cataract product
  • Application of AQP5 gene in preparation and detection of congenital cataract product

Examples

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Embodiment 1

[0028] Example 1: Screening the mutation site of AQP5 gene from a family with congenital cataract

[0029] 1. Extraction of peripheral blood genomic DNA:

[0030] 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.

[0031] 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, centrifuge...

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Abstract

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.

Description

technical field [0001] The invention belongs to the technical field of genetic diagnosis products, and in particular relates to the application of aquaporin 5 (AQP5) in the preparation and detection of genetic diagnosis products for congenital cataract. Background of the invention [0002] 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 to lose vision an...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/156
Inventor 陈鹏陈豪郝晓丹
Owner QINGDAO UNIV
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