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Application of ERCC8 (excision repair cross complementary group 8) gene to congenital cataract combined keratoconus detection

A technology for congenital cataract and keratoconus, which is applied in the determination/examination of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc. The effect of quick detection

Active Publication Date: 2017-02-15
SHANDONG EYE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Since the eyesight of infants and young children is developing, and congenital cataracts can seriously affect the development of vision, once the best time for treatment is missed, even if surgery is performed, it will be difficult to restore their vision, which will seriously affect the quality of life of patients and bring great harm to the society. Bringing a heavy financial and emotional burden to the family

Method used

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  • Application of ERCC8 (excision repair cross complementary group 8) gene to congenital cataract combined keratoconus detection
  • Application of ERCC8 (excision repair cross complementary group 8) gene to congenital cataract combined keratoconus detection

Examples

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Embodiment 1

[0043] Example 1: Screening the mutation site of ERCC8 gene from a family with congenital cataract combined with conus

[0044] 1. Extraction of peripheral blood genomic DNA:

[0045] 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.

[0046] Add 180 μl TE, 20 μl SDS (10%), and 8 μl proteinase K (10 mg / ml) to mix well, and place in a 56° 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 w...

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Abstract

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.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis products, and specifically relates to the application of excision repair cross-complementation group 8 (ERCC8) in the preparation and detection of congenital cataract combined with keratoconus gene diagnosis products. [0002] Background of the invention [0003] Congenital cataract (congenital cataract) is a serious blinding lens disease, which is a disease that reduces the transparency of the lens itself due to abnormal metabolism of the embryonic lens. This disease is one of the main causes of blindness in children, with an incidence rate of about 0.01%-0.06%, accounting for the second blinding eye disease in children. Congenital cataract can occur independently or as a concomitant symptom of ocular or systemic syndromes, often involving both eyes, often accompanied by anterior segment dysplasia, such as iris defect, Peters anomaly, ectopic pupil, nystagmus and keratoconus, etc. , These ...

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 郝晓丹赵晓雯李素霞田晓
Owner SHANDONG EYE INST
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