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Application of KRT12 gene to keratoconus detection

A keratoconus and gene technology, applied in the field of genetic diagnosis, can solve the problem of heavy economic burden on patients, and achieve the effect of rapid detection

Active Publication Date: 2017-01-04
SHANDONG EYE INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, RGP cannot prevent the progression of the disease. When RGP cannot be worn or the correction of poor vision is required, corneal transplantation is required, which brings a heavy economic burden to patients and the whole society.

Method used

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  • Application of KRT12 gene to keratoconus detection
  • Application of KRT12 gene to keratoconus detection
  • Application of KRT12 gene to keratoconus detection

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0019] Example 1: Screening the mutation site of KRT12 gene from patients with keratoconus

[0020] 1. Extraction of peripheral blood genomic DNA:

[0021] In compliance with the relevant national policies and regulations, and on the basis of the consent of the sampling subject, draw 2-5ml of peripheral venous blood from the first family member, put it into an EDTA anticoagulant tube, and store it at -80°C for later use; the frozen EDTA anticoagulant blood After melting at room temperature, put 500 μL into a centrifuge tube, add an equal volume of TE (pH 8.0), mix well, centrifuge at 10,000 rpm for 10 minutes at 4°C, and discard the supernatant.

[0022] 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 at 10,000 rp...

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Abstract

The invention aims to provide a novel application of a KRT12 gene to preparation of diagnostic reagents for keratoconus detection, and accordingly provides an effective method for keratoconus disease gene diagnosis, prenatal gene screening and genetic counseling. Application effects indicate that SNP (single nucleotide polymorphism) sites and detection primers can be effectively used for rapidly detecting KRT12 gene mutation sites of clinical patients and fetal cotyledon or amniotic fluid.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis, and in particular relates to the application of keratin 12 (KRT12) gene in detecting keratoconus. [0002] Background of the invention [0003] Keratoconus (keratoconus) is a primary degenerative disease characterized by corneal dilatation, central thinning, protruding forward, and conical shape. It often causes highly irregular myopic astigmatism, and in the advanced stage, acute corneal edema, scarring, and significant loss of vision will occur. More than puberty onset, slow development. Keratoconus is not uncommon in clinical practice. The prevalence rate of the general population worldwide is 0.5‰~2.3‰, Europe and the United States is 0.1‰~0.5‰, Japan is 0.7‰~0.8‰, and China is 0.4‰. There are differences among different races, although the incidence rate is relatively low , but because it mainly affects young and middle-aged people, the health hazards it causes to society are much h...

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 杜显利陈鹏王殿强孙大鹏
Owner SHANDONG EYE INST
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